#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
MALAT1	378938	broad.mit.edu	37	11	65268212	65268213	+	lincRNA	INS	-	-	C			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:65268212_65268213insC	ENST00000534336.1	+	0	2980_2981				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GTGTGCCAAGGCCACAGGGAAA	0.485																																						ENST00000534336.1		NA																	0					NA																																														0							g.chr11:65268212_65268213insC	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268214_65268214dupC		False	False		Somatic	2						NR_002819.2		WXS	Illumina HiSeq	Phase_I					0	2980_2981	+			NA						RNA	INS	ENST00000534336.1	37																																																																																						0.485	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	0	NR_002819		11:65268212
BTG1	694	broad.mit.edu	37	12	92537928	92537929	+	Frame_Shift_Ins	INS	-	-	CTGATTCGGCTGC			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr12:92537928_92537929insCTGATTCGGCTGC	ENST00000256015.3	-	2	804_805	c.443_444insGCAGCCGAATCAG	c.(442-444)agcfs	p.S148fs	RP11-796E2.4_ENST00000499685.2_RNA|C12orf79_ENST00000546975.1_5'Flank|C12orf79_ENST00000549802.1_5'Flank|RP11-796E2.4_ENST00000501008.2_RNA|C12orf79_ENST00000551843.1_5'Flank|C12orf79_ENST00000551563.2_5'Flank	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	148					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CCTCCTTACAGCTGATTCGGCT	0.465			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000256015.3		NA		Dom	yes		12	12q22	694	T	"""B-cell translocation gene 1, anti-proliferative"""			L	MYC		BCLL		0				haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16						c.(442-444)agcfs		B-cell translocation gene 1, anti-proliferative																																				SO:0001589	frameshift_variant	694				cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity	g.chr12:92537928_92537929insCTGATTCGGCTGC		CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.443_444insGCAGCCGAATCAG	12.37:g.92537928_92537929insCTGATTCGGCTGC	ENSP00000256015:p.Ser148fs	False	False		Somatic	0	OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1291		p.S148fs	NM_001731.2	NP_001722.1	WXS	Illumina HiSeq	Phase_I	P62324	BTG1_HUMAN			2	804_805	-		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)	148					P31607	Frame_Shift_Ins	INS	ENST00000256015.3	37	c.443_444insGCAGCCGAATCAG	CCDS9043.1																																																																																				0.465	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1	0			12:92537928
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
DNM1P46	196968	broad.mit.edu	37	15	100340192	100340193	+	RNA	INS	-	-	GCAGGTTGGACAG			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr15:100340192_100340193insGCAGGTTGGACAG	ENST00000341853.1	-	0	733_734					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CCCACGCGAGTCTCGTCGCGCC	0.629																																						ENST00000341853.1		NA																	0					NA																																														0							g.chr15:100340192_100340193insGCAGGTTGGACAG	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340192_100340193insGCAGGTTGGACAG		False	False		Somatic	0						NR_003260.1		WXS	Illumina HiSeq	Phase_I					0	733_734	-			NA					Q3ZCN3	RNA	INS	ENST00000341853.1	37																																																																																						0.629	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	0	NR_003260		15:100340192
BRD7	29117	broad.mit.edu	37	16	50368806	50368807	+	Splice_Site	INS	-	-	CTGG			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr16:50368806_50368807insCTGG	ENST00000394688.3	-	7	862	c.703_703insCCAG	c.(703-705)gaa>CCAGgaa	p.E235fs	BRD7_ENST00000394689.2_Splice_Site_p.E235fs			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	235					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TGAATTCTTTCCTAAACATATT	0.371																																						ENST00000394688.3		NA																	1	Unknown(1)	p.?(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22						c.(703-705)gaa>CCAGgaa		bromodomain containing 7																																				SO:0001630	splice_region_variant	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50368806_50368807insCTGG	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.703-1->CCAG	16.37:g.50368806_50368807insCTGG		False	False		Somatic	0				BRD7_ENST00000394689.2_Splice_Site_p.E235fs	p.E235fs			WXS	Illumina HiSeq	Phase_I	Q9NPI1	BRD7_HUMAN			7	862	-		all_cancers(37;0.0127)	235					Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Splice_Site	INS	ENST00000394688.3	37	c.703_703insCCAG	CCDS10742.1																																																																																				0.371	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	0	NM_013263	Frame_Shift_Ins	16:50368806
MGME1	92667	broad.mit.edu	37	20	17956442	17956442	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr20:17956442delC	ENST00000377710.5	+	3	915	c.627delC	c.(625-627)gtcfs	p.V209fs	MGME1_ENST00000377704.4_Intron|MGME1_ENST00000377709.1_Frame_Shift_Del_p.V129fs|MGME1_ENST00000467391.1_Intron	NM_052865.2	NP_443097.1			mitochondrial genome maintenance exonuclease 1																		TTGAAAGTGTCCAGCATATTC	0.438																																						ENST00000377710.5		NA																	0					NA						c.(625-627)gtcfs		mitochondrial genome maintenance exonuclease 1							110.0	105.0	107.0					20																	17956442		2203	4300	6503	SO:0001589	frameshift_variant	92667							g.chr20:17956442delC		CCDS13131.1	20p11.23	2013-08-29	2013-01-11	2013-01-11	ENSG00000125871	ENSG00000125871			16205	protein-coding gene	gene with protein product		615076	"""chromosome 20 open reading frame 72"""	C20orf72		23313956, 23358826, 23434322	Standard	NM_052865		Approved	bA504H3.4, DDK1	uc002wqh.3	Q9BQP7	OTTHUMG00000031955	ENST00000377710.5:c.627delC	20.37:g.17956442delC	ENSP00000366939:p.Val209fs	False	False		Somatic	2				MGME1_ENST00000467391.1_Intron|MGME1_ENST00000377709.1_Frame_Shift_Del_p.V129fs|MGME1_ENST00000377704.4_Intron	p.V209fs	NM_052865.2	NP_443097.1	WXS	Illumina HiSeq	Phase_I					3	915	+			NA						Frame_Shift_Del	DEL	ENST00000377710.5	37	c.627delC	CCDS13131.1																																																																																				0.438	MGME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078139.1	0	NM_052865		20:17956442
CST1	1469	broad.mit.edu	37	20	23729740	23729742	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr20:23729740_23729742delGAA	ENST00000304749.2	-	2	323_325	c.253_255delTTC	c.(253-255)ttcdel	p.F85del	CST1_ENST00000398402.1_In_Frame_Del_p.F85del	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	85					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CCTCTACGTCGAAGAAGTAATTC	0.547																																						ENST00000304749.2		NA																	0				kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(253-255)ttcdel		cystatin SN																																				SO:0001651	inframe_deletion	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23729740_23729742delGAA	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.253_255delTTC	20.37:g.23729743_23729745delGAA	ENSP00000305731:p.Phe85del	False	False		Somatic	2				CST1_ENST00000398402.1_In_Frame_Del_p.F85del	p.F85del	NM_001898.2	NP_001889.2	WXS	Illumina HiSeq	Phase_I	P01037	CYTN_HUMAN			2	323_325	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		85					Q96LE6|Q9UCQ6	In_Frame_Del	DEL	ENST00000304749.2	37	c.253_255delTTC	CCDS13160.1																																																																																				0.547	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	0	NM_001898		20:23729740
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-	rs375413411		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314																																						ENST00000461153.2		NA																	0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e25+2		ankyrin repeat domain 36																																				SO:0001630	splice_region_variant	375248							g.chr2:97847365_97847368delTAAT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1764+2TAAT>-	2.37:g.97847365_97847368delTAAT		False	False		Somatic	1				ANKRD36_ENST00000420699.2_Splice_Site				WXS	Illumina HiSeq	Phase_I	A6QL64	AN36A_HUMAN			25	2008	+			NA					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Splice_Site	DEL	ENST00000461153.2	37		CCDS54379.1																																																																																				0.314	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5	0		Intron	2:97847365
PABPC1	26986	broad.mit.edu	37	8	101719035	101719036	+	Splice_Site	DEL	TA	TA	-			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr8:101719035_101719036delTA	ENST00000318607.5	-	11	2576		c.e11-2		AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Splice_Site|PABPC1_ENST00000522387.1_Splice_Site	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ATGTGTTAGCTAAAAAATAAGA	0.426																																						ENST00000318607.5		NA																	0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.e11-2		poly(A) binding protein, cytoplasmic 1																																				SO:0001630	splice_region_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101719035_101719036delTA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1448-2TA>-	8.37:g.101719035_101719036delTA		True	False		Somatic	1				PABPC1_ENST00000519004.1_Splice_Site|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000522387.1_Splice_Site		NM_002568.3	NP_002559.2	WXS	Illumina HiSeq	Phase_I	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		11	2576	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		NA					Q15097|Q93004	Splice_Site	DEL	ENST00000318607.5	37		CCDS6289.1																																																																																				0.426	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	0	NM_002568	Intron	8:101719035
NOL8	55035	broad.mit.edu	37	9	95077918	95077940	+	Frame_Shift_Del	DEL	TCAGATTCATTTATTGAGGGTTG	TCAGATTCATTTATTGAGGGTTG	-			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	TCAGATTCATTTATTGAGGGTTG	TCAGATTCATTTATTGAGGGTTG	-	-	TCAGATTCATTTATTGAGGGTTG	TCAGATTCATTTATTGAGGGTTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:95077918_95077940delTCAGATTCATTTATTGAGGGTTG	ENST00000535387.1	-	6	966_988	c.967_989delCAACCCTCAATAAATGAATCTGA	c.(967-990)caaccctcaataaatgaatctgaafs	p.QPSINESE323fs	NOL8_ENST00000542053.1_Frame_Shift_Del_p.QPSINESE255fs|NOL8_ENST00000545558.1_Frame_Shift_Del_p.QPSINESE323fs|NOL8_ENST00000358855.4_Frame_Shift_Del_p.QPSINESE255fs|NOL8_ENST00000442668.2_Frame_Shift_Del_p.QPSINESE323fs					nucleolar protein 8									p.S325L(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						AGGATCACTTTCAGATTCATTTATTGAGGGTTGTGTAGTTCTC	0.359																																						ENST00000535387.1		NA																	1	Substitution - Missense(1)	p.S325L(1)	skin(1)	endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(967-990)caaccctcaataaatgaatctgaafs		nucleolar protein 8																																				SO:0001589	frameshift_variant	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95077918_95077940delTCAGATTCATTTATTGAGGGTTG	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.967_989delCAACCCTCAATAAATGAATCTGA	9.37:g.95077918_95077940delTCAGATTCATTTATTGAGGGTTG	ENSP00000441300:p.Gln323fs	True	False		Somatic	1				NOL8_ENST00000358855.4_Frame_Shift_Del_p.QPSINESE255fs|NOL8_ENST00000542053.1_Frame_Shift_Del_p.QPSINESE255fs|NOL8_ENST00000545558.1_Frame_Shift_Del_p.QPSINESE323fs|NOL8_ENST00000442668.2_Frame_Shift_Del_p.QPSINESE323fs	p.QPSINESE323fs			WXS	Illumina HiSeq	Phase_I	Q76FK4	NOL8_HUMAN			6	966_988	-			323						Frame_Shift_Del	DEL	ENST00000535387.1	37	c.967_989delCAACCCTCAATAAATGAATCTGA	CCDS47993.1																																																																																				0.359	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	0	NM_017948		9:95077918
TTN	7273	broad.mit.edu	37	2	179428962	179428962	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:179428962G>A	ENST00000591111.1	-	276	77198	c.76974C>T	c.(76972-76974)atC>atT	p.I25658I	TTN_ENST00000342992.6_Silent_p.I24731I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.I18426I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.I18359I|TTN_ENST00000460472.2_Silent_p.I18234I|TTN_ENST00000589042.1_Silent_p.I27299I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25658	Ig-like 125.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTGCCACGGATGTCGGCTT	0.378																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(81895-81897)atC>atT		titin							156.0	156.0	156.0					2																	179428962		1902	4117	6019	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428962G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76974C>T	2.37:g.179428962G>A		False	False		Somatic	0				TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.I18426I|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.I25658I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.I18359I|TTN_ENST00000342992.6_Silent_p.I24731I|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.I18234I	p.I27299I	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	82121	-			25658					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.81897C>T																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179428962
GNA13	10672	broad.mit.edu	37	17	63052667	63052667	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:63052667G>A	ENST00000439174.2	-	1	290	c.45C>T	c.(43-45)ttC>ttT	p.F15F	GNA13_ENST00000541118.1_5'Flank	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	15					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GGCAGCCGGGGAAGCACACGG	0.682																																						ENST00000439174.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						c.(43-45)ttC>ttT		guanine nucleotide binding protein (G protein), alpha 13							85.0	83.0	84.0					17																	63052667		2203	4300	6503	SO:0001819	synonymous_variant	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63052667G>A	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.45C>T	17.37:g.63052667G>A		True	False		Somatic	0					p.F15F	NM_006572.4	NP_006563.2	WXS	Illumina HiSeq	Phase_I	Q14344	GNA13_HUMAN			1	290	-			15					B2R977|B7Z7R0|F5H1G8|Q8TD70	Silent	SNP	ENST00000439174.2	37	c.45C>T	CCDS11661.1																																																																																				0.682	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	0	NM_006572		17:63052667
C4A	720	broad.mit.edu	37	6	31964233	31964233	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:31964233T>C	ENST00000428956.2	+	28	3616	c.3532T>C	c.(3532-3534)Ttt>Ctt	p.F1178L	C4A_ENST00000498271.1_Missense_Mutation_p.F1178L	NM_007293.2	NP_009224.2	P0C0L4	CO4A_HUMAN	complement component 4A (Rodgers blood group)	1178					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement component C1q binding (GO:0001849)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	GGCAAACTCATTTTTGGGGGA	0.607																																						ENST00000428956.2		NA																	0					NA						c.(3532-3534)Ttt>Ctt		complement component 4A (Rodgers blood group)							86.0	98.0	94.0					6																	31964233		1554	3540	5094	SO:0001583	missense	720							g.chr6:31964233T>C	L26261, M14823, X77491, AY224378	CCDS47404.1, CCDS59005.1	6p21.3	2014-09-17	2006-01-19		ENSG00000244731	ENSG00000244731		"""Blood group antigens"", ""Complement system"""	1323	protein-coding gene	gene with protein product		120810	"""complement component 4A"""				Standard	NM_001252204		Approved	CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG		P0C0L4	OTTHUMG00000031186	ENST00000428956.2:c.3532T>C	6.37:g.31964233T>C	ENSP00000396688:p.Phe1178Leu	True	False		Somatic	0				C4A_ENST00000498271.1_Missense_Mutation_p.F1178L	p.F1178L	NM_007293.2	NP_009224.2	WXS	Illumina HiSeq	Phase_I					28	3616	+			NA					A6H8M8|A6NHJ5|A7E2V2|B0QZR6|B0V2C8|B2RUT6|B7ZVZ6|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q4LE82|Q5JNX2|Q5JQM8|Q6P4R1|Q6U2E5|Q6U2E8|Q6U2F0|Q6U2F3|Q6U2F4|Q6U2F6|Q6U2F8|Q6U2G0|Q96EG2|Q96SA8|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	ENST00000428956.2	37	c.3532T>C	CCDS47404.1	.	.	.	.	.	.	.	.	.	.	t	16.23	3.065178	0.55432	.	.	ENSG00000244731	ENST00000428956;ENST00000498271	T;T	0.42513	0.97;0.97	3.47	3.47	0.39725	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.187132	0.47852	D	0.000213	T	0.39682	0.1087	M	0.79693	2.465	0.80722	D	1	P;P	0.42649	0.786;0.786	P;P	0.47941	0.562;0.562	T	0.46359	-0.9197	10	0.72032	D	0.01	.	8.7321	0.34505	0.0:0.0:0.0:1.0	.	1178;1178	A6H8M8;P0C0L4	.;CO4A_HUMAN	L	1178	ENSP00000396688:F1178L;ENSP00000420212:F1178L	ENSP00000396688:F1178L	F	+	1	0	C4A	32072212	0.982000	0.34865	0.765000	0.31456	0.716000	0.41182	2.447000	0.44917	1.361000	0.45981	0.338000	0.21704	TTT		0.607	C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076364.3	0	NM_007293		6:31964233
DST	667	broad.mit.edu	37	6	56497706	56497706	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:56497706C>T	ENST00000361203.3	-	24	3125	c.3118G>A	c.(3118-3120)Gag>Aag	p.E1040K	DST_ENST00000518935.1_Missense_Mutation_p.E714K|DST_ENST00000312431.6_Missense_Mutation_p.E1040K|DST_ENST00000446842.2_Missense_Mutation_p.E714K|DST_ENST00000370769.4_Missense_Mutation_p.E1040K|DST_ENST00000370754.5_Missense_Mutation_p.E1218K|DST_ENST00000370765.6_Missense_Mutation_p.E714K|DST_ENST00000370788.2_Missense_Mutation_p.E1040K|DST_ENST00000244364.6_Missense_Mutation_p.E714K|DST_ENST00000421834.2_Missense_Mutation_p.E1040K			Q03001	DYST_HUMAN	dystonin	1040					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACATTAACCTCCTTTTCCAGT	0.378																																						ENST00000370754.5		NA																	0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(3652-3654)Gag>Aag		dystonin							121.0	119.0	119.0					6																	56497706		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56497706C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3118G>A	6.37:g.56497706C>T	ENSP00000354508:p.Glu1040Lys	False	False		Somatic	0				DST_ENST00000370788.2_Missense_Mutation_p.E1040K|DST_ENST00000361203.3_Missense_Mutation_p.E1040K|DST_ENST00000244364.6_Missense_Mutation_p.E714K|DST_ENST00000446842.2_Missense_Mutation_p.E714K|DST_ENST00000312431.6_Missense_Mutation_p.E1040K|DST_ENST00000370765.6_Missense_Mutation_p.E714K|DST_ENST00000421834.2_Missense_Mutation_p.E1040K|DST_ENST00000518935.1_Missense_Mutation_p.E714K|DST_ENST00000370769.4_Missense_Mutation_p.E1040K	p.E1218K			WXS	Illumina HiSeq	Phase_I	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		27	3651	-	Lung NSC(77;0.103)		1040					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.3652G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.100384	0.94245	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.69926	1.48;1.48;1.48;1.48;1.48;1.48;1.48;-0.44;1.48;1.48;1.48;-0.42	5.6	4.73	0.59995	.	0.107851	0.40302	N	0.001138	T	0.76399	0.3982	M	0.77820	2.39	0.33173	D	0.548481	B;D;B;P;D;D;B;P	0.69078	0.012;0.997;0.012;0.948;0.995;0.995;0.012;0.57	B;D;B;P;D;D;B;B	0.73380	0.012;0.98;0.012;0.65;0.946;0.977;0.012;0.202	T	0.80553	-0.1331	9	0.54805	T	0.06	.	14.9154	0.70792	0.0:0.9309:0.0:0.0691	.	1040;1040;1218;714;714;714;1040;714	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	K	714;1218;1040;1040;714;1040;1040;1040;714;1080;714;714	ENSP00000244364:E714K;ENSP00000359790:E1218K;ENSP00000359805:E1040K;ENSP00000400883:E1040K;ENSP00000393645:E714K;ENSP00000307959:E1040K;ENSP00000359824:E1040K;ENSP00000354508:E1040K;ENSP00000404924:E714K;ENSP00000431030:E1080K;ENSP00000359801:E714K;ENSP00000431003:E714K	ENSP00000244364:E714K	E	-	1	0	DST	56605665	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.445000	0.80570	1.503000	0.48686	0.563000	0.77884	GAG		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	0	NM_001723		6:56497706
ATP5J2	9551	broad.mit.edu	37	7	99057763	99057763	+	Missense_Mutation	SNP	A	A	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr7:99057763A>T	ENST00000292475.3	-	2	274	c.85T>A	c.(85-87)Tgg>Agg	p.W29R	ATP5J2_ENST00000449683.1_Missense_Mutation_p.W33R|ATP5J2-PTCD1_ENST00000437572.1_Intron|PTCD1_ENST00000555673.1_Missense_Mutation_p.W23R|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.W23R|ATP5J2_ENST00000466753.1_Intron|ATP5J2_ENST00000394186.3_Missense_Mutation_p.W23R|ATP5J2_ENST00000544611.1_Missense_Mutation_p.W23R|ATP5J2_ENST00000488775.1_Missense_Mutation_p.W23R|ATP5J2_ENST00000359832.4_Missense_Mutation_p.W29R	NM_004889.3	NP_004880.1	P56134	ATPK_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2	29					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|nucleus (GO:0005634)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	transmembrane transporter activity (GO:0022857)			large_intestine(1)|ovary(1)	2	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)					ATCAAGATCCAGCTTGGCAGC	0.473																																						ENST00000555673.1		NA																	0				endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(67-69)Tgg>Agg		pentatricopeptide repeat domain 1							171.0	186.0	181.0					7																	99057763		2203	4300	6503	SO:0001583	missense	26024							g.chr7:99057763A>T	AF047436	CCDS5665.1, CCDS34692.1, CCDS47653.1, CCDS47654.1	7q22.1	2012-10-12	2010-06-11		ENSG00000241468	ENSG00000241468		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	848	protein-coding gene	gene with protein product	"""F1Fo-ATPase synthase f subunit"", ""ATP synthase f chain, mitochondrial"", ""F1Fo-ATP synthase complex Fo membrane domain f subunit"""		"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2"""			9653160	Standard	NM_004889		Approved	F1Fo-ATPase, ATP5JL		P56134	OTTHUMG00000154609	ENST00000292475.3:c.85T>A	7.37:g.99057763A>T	ENSP00000292475:p.Trp29Arg	False	False		Somatic	0				ATP5J2_ENST00000466753.1_Intron|ATP5J2_ENST00000449683.1_Missense_Mutation_p.W33R|ATP5J2_ENST00000292475.3_Missense_Mutation_p.W29R|ATP5J2_ENST00000359832.4_Missense_Mutation_p.W29R|ATP5J2_ENST00000394186.3_Missense_Mutation_p.W23R|ATP5J2_ENST00000544611.1_Missense_Mutation_p.W23R|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.W23R|ATP5J2_ENST00000488775.1_Missense_Mutation_p.W23R|ATP5J2-PTCD1_ENST00000437572.1_Intron	p.W23R	NM_001198879.1	NP_001185808.1	WXS	Illumina HiSeq	Phase_I			STAD - Stomach adenocarcinoma(171;0.215)		2	89	-	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)		NA					C9J8H9|F8W7V3|O76079|Q6IBB3|Q96L83|Q9BTI8	Missense_Mutation	SNP	ENST00000292475.3	37	c.67T>A	CCDS5665.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691622	0.88735	.	.	ENSG00000106246;ENSG00000248919;ENSG00000241468;ENSG00000241468;ENSG00000241468;ENSG00000241468;ENSG00000241468;ENSG00000241468	ENST00000555673;ENST00000413834;ENST00000449683;ENST00000359832;ENST00000292475;ENST00000544611;ENST00000488775;ENST00000394186	D;D;T;T	0.93366	-3.21;-3.21;2.74;2.74	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.95774	0.8625	M	0.62088	1.915	0.38185	D	0.939747	D;D;P;D;P	0.89917	1.0;1.0;0.928;0.958;0.91	D;D;P;D;P	0.91635	0.999;0.999;0.851;0.934;0.807	D	0.97011	0.9736	10	0.62326	D	0.03	.	14.5027	0.67732	1.0:0.0:0.0:0.0	.	23;29;23;29;23	G3V325;F8W7V3;C9J8H9;P56134;P56134-2	.;.;.;ATPK_HUMAN;.	R	23;23;33;29;29;23;23;23	ENSP00000450995:W23R;ENSP00000400168:W23R;ENSP00000407540:W33R;ENSP00000377740:W23R	ENSP00000292475:W29R	W	-	1	0	ATP5J2;ATP5J2-PTCD1;PTCD1	98895699	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.182000	0.89698	1.924000	0.55735	0.379000	0.24179	TGG		0.473	ATP5J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336263.1	0	NM_004889		7:99057763
ME2	4200	broad.mit.edu	37	18	48447459	48447459	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr18:48447459G>A	ENST00000321341.5	+	10	1230	c.958G>A	c.(958-960)Gca>Aca	p.A320T	ME2_ENST00000382927.3_Missense_Mutation_p.A320T	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	320					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		TCTTGGAATTGCAAATCTTAT	0.313																																						ENST00000321341.5		NA																	0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(958-960)Gca>Aca		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						52.0	54.0	53.0					18																	48447459		2203	4297	6500	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48447459G>A	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.958G>A	18.37:g.48447459G>A	ENSP00000321070:p.Ala320Thr	False	False		Somatic	0				ME2_ENST00000382927.3_Missense_Mutation_p.A320T	p.A320T	NM_002396.4	NP_002387.1	WXS	Illumina HiSeq	Phase_I	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	10	1230	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	320					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.958G>A	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728962	0.89390	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.34667	1.35;1.35	5.92	5.04	0.67666	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.098582	0.64402	D	0.000001	T	0.60996	0.2312	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.926;0.999	T	0.66360	-0.5943	10	0.87932	D	0	-21.3568	15.3065	0.73995	0.0:0.0:0.8586:0.1414	.	320;320	Q9BWL6;P23368	.;MAOM_HUMAN	T	320	ENSP00000321070:A320T;ENSP00000372384:A320T	ENSP00000321070:A320T	A	+	1	0	ME2	46701457	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.841000	0.99482	1.487000	0.48415	0.650000	0.86243	GCA		0.313	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	0	NM_002396		18:48447459
FPR1	2357	broad.mit.edu	37	19	52249834	52249834	+	Silent	SNP	G	G	A	rs151277630		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:52249834G>A	ENST00000595042.1	-	3	555	c.414C>T	c.(412-414)acC>acT	p.T138T	FPR1_ENST00000304748.4_Silent_p.T138T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	138					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CCAGGCTCACGGTGCGGTGGT	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22077	0.0		0.0	False		,,,				2504	0.0					ENST00000595042.1		NA																	0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(412-414)acC>acT		formyl peptide receptor 1	Nedocromil(DB00716)	G	,	1,4405		0,1,2202	80.0	69.0	73.0		414,414	-7.3	0.0	19	dbSNP_134	73	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	FPR1	NM_001193306.1,NM_002029.3	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	138/351,138/351	52249834	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249834G>A	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.414C>T	19.37:g.52249834G>A		True	False		Somatic	0				FPR1_ENST00000304748.4_Silent_p.T138T	p.T138T	NM_001193306.1	NP_001180235.1	WXS	Illumina HiSeq	Phase_I	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	555	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	138					Q14939|Q7Z6A4|Q86U52|Q9NS48	Silent	SNP	ENST00000595042.1	37	c.414C>T	CCDS12839.1																																																																																				0.547	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	0	NM_002029		19:52249834
SDK2	54549	broad.mit.edu	37	17	71390417	71390417	+	Silent	SNP	G	G	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:71390417G>T	ENST00000392650.3	-	26	3639	c.3639C>A	c.(3637-3639)tcC>tcA	p.S1213S	SDK2_ENST00000388726.3_Silent_p.S1213S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1213	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCATGCTGCTGGAGGTGGTGG	0.642																																						ENST00000392650.3		NA																	0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(3637-3639)tcC>tcA		sidekick cell adhesion molecule 2							48.0	42.0	44.0					17																	71390417		2203	4300	6503	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71390417G>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3639C>A	17.37:g.71390417G>T		False	False		Somatic	0				SDK2_ENST00000388726.3_Silent_p.S1213S	p.S1213S	NM_001144952.1	NP_001138424.1	WXS	Illumina HiSeq	Phase_I	Q58EX2	SDK2_HUMAN			26	3639	-			1213			Fibronectin type-III 7.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.3639C>A	CCDS45769.1																																																																																				0.642	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	0	NM_019064		17:71390417
CC2D1A	54862	broad.mit.edu	37	19	14034184	14034184	+	Silent	SNP	G	G	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:14034184G>T	ENST00000318003.7	+	15	1921	c.1680G>T	c.(1678-1680)ctG>ctT	p.L560L	CC2D1A_ENST00000589606.1_Silent_p.L560L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	560					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	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)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			ACTTTGCCCTGGTCCAGCGGC	0.687																																						ENST00000318003.7		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(1678-1680)ctG>ctT		coiled-coil and C2 domain containing 1A							55.0	61.0	59.0					19																	14034184		1982	4140	6122	SO:0001819	synonymous_variant	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14034184G>T	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1680G>T	19.37:g.14034184G>T		False	False		Somatic	0				CC2D1A_ENST00000589606.1_Silent_p.L560L	p.L560L	NM_017721.4	NP_060191.3	WXS	Illumina HiSeq	Phase_I	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		15	1921	+			560					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Silent	SNP	ENST00000318003.7	37	c.1680G>T	CCDS42512.1																																																																																				0.687	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	0	NM_017721		19:14034184
ADAMTS13	11093	broad.mit.edu	37	9	136298550	136298550	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:136298550C>T	ENST00000371929.3	+	10	1589	c.1145C>T	c.(1144-1146)gCa>gTa	p.A382V	ADAMTS13_ENST00000536611.1_Missense_Mutation_p.A54V|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A351V|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A382V|ADAMTS13_ENST00000485925.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	382	Disintegrin.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCCATAGCAGCAGTGCATGGG	0.652																																						ENST00000371929.3		NA																	0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(1144-1146)gCa>gTa		ADAM metallopeptidase with thrombospondin type 1 motif, 13							65.0	62.0	63.0					9																	136298550		2203	4300	6503	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136298550C>T	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1145C>T	9.37:g.136298550C>T	ENSP00000360997:p.Ala382Val	False	False		Somatic	0				ADAMTS13_ENST00000536611.1_Missense_Mutation_p.A54V|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A351V|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A382V	p.A382V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	WXS	Illumina HiSeq	Phase_I	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	10	1589	+			382			Disintegrin.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.1145C>T	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.579567	0.00879	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	4.88	-1.23	0.09465	.	.	.	.	.	T	0.21145	0.0509	N	0.00525	-1.395	0.09310	N	1	B;B;B	0.14012	0.001;0.009;0.005	B;B;B	0.06405	0.001;0.002;0.002	T	0.26395	-1.0104	9	0.23891	T	0.37	.	9.0857	0.36579	0.0:0.2758:0.0:0.7242	.	382;351;382	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	V	382;382;351;54	ENSP00000360997:A382V;ENSP00000347927:A382V;ENSP00000348997:A351V;ENSP00000444504:A54V	ENSP00000347927:A382V	A	+	2	0	ADAMTS13	135288371	0.952000	0.32445	0.002000	0.10522	0.006000	0.05464	1.776000	0.38594	-0.069000	0.12931	0.462000	0.41574	GCA		0.652	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	0	NM_139025		9:136298550
PRSS54	221191	broad.mit.edu	37	16	58324907	58324907	+	Silent	SNP	C	C	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr16:58324907C>A	ENST00000219301.4	-	4	613	c.219G>T	c.(217-219)ctG>ctT	p.L73L	PRSS54_ENST00000543437.1_Intron|PRSS54_ENST00000567164.1_Silent_p.L73L	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	73	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGAACTCGCTCAGGATGCAGC	0.647																																						ENST00000219301.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(217-219)ctG>ctT		protease, serine, 54							101.0	82.0	88.0					16																	58324907		2198	4300	6498	SO:0001819	synonymous_variant	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58324907C>A	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.219G>T	16.37:g.58324907C>A		False	False		Somatic	0				PRSS54_ENST00000567164.1_Silent_p.L73L|PRSS54_ENST00000543437.1_Intron	p.L73L	NM_001080492.1	NP_001073961.1	WXS	Illumina HiSeq	Phase_I	Q6PEW0	PRS54_HUMAN			4	613	-			73			Peptidase S1.		Q96LN9|Q9NT77	Silent	SNP	ENST00000219301.4	37	c.219G>T	CCDS32463.1																																																																																				0.647	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	0	NM_001080492		16:58324907
KMT2D	8085	broad.mit.edu	37	12	49427679	49427679	+	Silent	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr12:49427679C>T	ENST00000301067.7	-	39	10808	c.10809G>A	c.(10807-10809)caG>caA	p.Q3603Q	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3603	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q3603Q(1)|p.Q3333Q(1)									gctgctgctgctgttgttgct	0.582																																						ENST00000301067.7		NA																	2	Substitution - coding silent(2)	p.Q3603Q(1)|p.Q3333Q(1)	endometrium(2)		NA						c.(10807-10809)caG>caA		lysine (K)-specific methyltransferase 2D							10.0	10.0	10.0					12																	49427679		2174	4260	6434	SO:0001819	synonymous_variant	8085							g.chr12:49427679C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10809G>A	12.37:g.49427679C>T		True	False		Somatic	0					p.Q3603Q	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					39	10808	-			NA					O14687	Silent	SNP	ENST00000301067.7	37	c.10809G>A	CCDS44873.1																																																																																				0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49427679
MPDZ	8777	broad.mit.edu	37	9	13168481	13168481	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:13168481G>A	ENST00000319217.7	-	22	3385	c.3138C>T	c.(3136-3138)ggC>ggT	p.G1046G	MPDZ_ENST00000381022.2_Silent_p.G1046G|MPDZ_ENST00000541718.1_Silent_p.G1046G|MPDZ_ENST00000447879.1_Silent_p.G1046G|MPDZ_ENST00000381015.4_Silent_p.G1046G|MPDZ_ENST00000536827.1_Silent_p.G1046G|MPDZ_ENST00000546205.1_Silent_p.G1046G	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1046	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGGCAATCCGGCCATCTCGAC	0.448																																						ENST00000319217.7		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(3136-3138)ggC>ggT		multiple PDZ domain protein							207.0	202.0	203.0					9																	13168481		1970	4155	6125	SO:0001819	synonymous_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13168481G>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3138C>T	9.37:g.13168481G>A		False	False		Somatic	0				MPDZ_ENST00000536827.1_Silent_p.G1046G|MPDZ_ENST00000546205.1_Silent_p.G1046G|MPDZ_ENST00000381022.2_Silent_p.G1046G|MPDZ_ENST00000541718.1_Silent_p.G1046G|MPDZ_ENST00000447879.1_Silent_p.G1046G|MPDZ_ENST00000381015.4_Silent_p.G1046G	p.G1046G	NM_001261406.1	NP_001248335.1	WXS	Illumina HiSeq	Phase_I	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	22	3385	-			1046			PDZ 6.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37	c.3138C>T																																																																																					0.448	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	0	NM_003829		9:13168481
ANO8	57719	broad.mit.edu	37	19	17436170	17436170	+	Missense_Mutation	SNP	C	C	T	rs578235436		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:17436170C>T	ENST00000159087.4	-	17	2845	c.2687G>A	c.(2686-2688)cGc>cAc	p.R896H		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	896					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CTGCTGGTAGCGATGCTGGGC	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15385	0.0		0.0	False		,,,				2504	0.0					ENST00000159087.4		NA																	0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(2686-2688)cGc>cAc		anoctamin 8							19.0	22.0	21.0					19																	17436170		2181	4262	6443	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17436170C>T	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2687G>A	19.37:g.17436170C>T	ENSP00000159087:p.Arg896His	False	False		Somatic	0					p.R896H	NM_020959.2	NP_066010.1	WXS	Illumina HiSeq	Phase_I	Q9HCE9	ANO8_HUMAN			17	2845	-			896					A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.2687G>A	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	C	8.172	0.791995	0.16258	.	.	ENSG00000074855	ENST00000159087	T	0.60299	0.2	4.7	3.6	0.41247	.	0.246536	0.41294	N	0.000902	T	0.21022	0.0506	N	0.01352	-0.895	0.35734	D	0.818185	B	0.10296	0.003	B	0.04013	0.001	T	0.17107	-1.0380	10	0.06757	T	0.87	.	5.7143	0.17952	0.0:0.6669:0.0:0.3331	.	896	Q9HCE9	ANO8_HUMAN	H	896	ENSP00000159087:R896H	ENSP00000159087:R896H	R	-	2	0	ANO8	17297170	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	2.117000	0.41939	0.891000	0.36235	0.491000	0.48974	CGC		0.647	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	0	XM_050644		19:17436170
FZD8	8325	broad.mit.edu	37	10	35930018	35930018	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr10:35930018C>T	ENST00000374694.1	-	1	344	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	114	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CCGGCCTTGGCGCGCTCGCAC	0.682																																						ENST00000374694.1		NA																	0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(340-342)Gcc>Acc		frizzled family receptor 8							23.0	26.0	25.0					10																	35930018		2198	4295	6493	SO:0001583	missense	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35930018C>T	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.340G>A	10.37:g.35930018C>T	ENSP00000363826:p.Ala114Thr	True	False		Somatic	0					p.A114T	NM_031866.2	NP_114072.1	WXS	Illumina HiSeq	Phase_I	Q9H461	FZD8_HUMAN			1	344	-			114			FZ.			Missense_Mutation	SNP	ENST00000374694.1	37	c.340G>A	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033182	0.75504	.	.	ENSG00000177283	ENST00000374694	T	0.56444	0.46	3.21	3.21	0.36854	Frizzled domain (5);	0.000000	0.64402	U	0.000002	T	0.73644	0.3613	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.80103	-0.1522	10	0.72032	D	0.01	.	14.5091	0.67772	0.0:1.0:0.0:0.0	.	114	Q9H461	FZD8_HUMAN	T	114	ENSP00000363826:A114T	ENSP00000363826:A114T	A	-	1	0	FZD8	35970024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.700000	0.68318	1.821000	0.53095	0.442000	0.29010	GCC		0.682	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	0	NM_031866		10:35930018
PCDHB18	54660	broad.mit.edu	37	5	140615657	140615657	+	RNA	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr5:140615657G>A	ENST00000526308.1	+	0	1720					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CGCGGACAACGGCCACCTATT	0.677																																						ENST00000526308.1		NA																	0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														0							g.chr5:140615657G>A	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615657G>A		False	False		Somatic	0						NR_001281.1		WXS	Illumina HiSeq	Phase_I					0	1720	+			NA					B3KTF8	RNA	SNP	ENST00000526308.1	37																																																																																						0.677	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1	0			5:140615657
DCAF12L1	139170	broad.mit.edu	37	X	125686333	125686333	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:125686333G>A	ENST00000371126.1	-	1	501	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	87										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGCTCCGTCAGCAGCTCGGGC	0.657																																						ENST00000371126.1		NA																	0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(259-261)Ctg>Ttg		DDB1 and CUL4 associated factor 12-like 1							63.0	53.0	56.0					X																	125686333		2203	4298	6501	SO:0001819	synonymous_variant	139170							g.chrX:125686333G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.259C>T	X.37:g.125686333G>A		False	False		Somatic	0					p.L87L	NM_178470.4	NP_848565.2	WXS	Illumina HiSeq	Phase_I	Q5VU92	DC121_HUMAN			1	501	-			87					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.259C>T	CCDS14610.1																																																																																				0.657	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	0	NM_178470		X:125686333
OR5P3	120066	broad.mit.edu	37	11	7847156	7847156	+	Missense_Mutation	SNP	G	G	A	rs117218570		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:7847156G>A	ENST00000328375.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCACATAGCGATCATAGGCC	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		19120	0.001		0.0	False		,,,				2504	0.0					ENST00000328375.1		NA																	0				autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15						c.(364-366)Cgc>Tgc		olfactory receptor, family 5, subfamily P, member 3							138.0	132.0	134.0					11																	7847156		2185	4296	6481	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7847156G>A	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.364C>T	11.37:g.7847156G>A	ENSP00000332068:p.Arg122Cys	False	False		Somatic	0				RP11-35J10.5_ENST00000527565.1_lincRNA	p.R122C	NM_153445.1	NP_703146.1	WXS	Illumina HiSeq	Phase_I	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	363	-			122					Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.364C>T	CCDS7783.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.15	1.851091	0.32699	.	.	ENSG00000182334	ENST00000328375	T	0.77358	-1.09	5.28	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	0.495306	0.17510	N	0.171680	T	0.71829	0.3386	M	0.77712	2.385	0.40907	D	0.984205	P	0.41345	0.746	B	0.34138	0.176	T	0.72846	-0.4169	10	0.72032	D	0.01	-18.8109	6.7708	0.23593	0.1574:0.0:0.701:0.1415	.	122	Q8WZ94	OR5P3_HUMAN	C	122	ENSP00000332068:R122C	ENSP00000332068:R122C	R	-	1	0	OR5P3	7803732	0.999000	0.42202	0.995000	0.50966	0.176000	0.22953	1.895000	0.39778	0.816000	0.34421	0.644000	0.83932	CGC		0.557	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	0	NM_153445		11:7847156
GRIA4	2893	broad.mit.edu	37	11	105795458	105795458	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:105795458G>T	ENST00000530497.1	+	11	1810	c.1810G>T	c.(1810-1812)Ggt>Tgt	p.G604C	GRIA4_ENST00000525187.1_Missense_Mutation_p.G604C|GRIA4_ENST00000282499.5_Missense_Mutation_p.G604C|GRIA4_ENST00000393127.2_Missense_Mutation_p.G604C			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	604					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GTTTTCCCTGGGTGCTTTTAT	0.453																																						ENST00000393127.2		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(1810-1812)Ggt>Tgt		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						82.0	71.0	75.0					11																	105795458		2202	4299	6501	SO:0001583	missense	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105795458G>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1810G>T	11.37:g.105795458G>T	ENSP00000435775:p.Gly604Cys	True	False		Somatic	0				GRIA4_ENST00000530497.1_Missense_Mutation_p.G604C|GRIA4_ENST00000525187.1_Missense_Mutation_p.G604C|GRIA4_ENST00000282499.5_Missense_Mutation_p.G604C	p.G604C	NM_001077243.2	NP_001070711	WXS	Illumina HiSeq	Phase_I	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	12	2256	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	604					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.1810G>T	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903038	0.92035	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	6.05	6.05	0.98169	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000001	T	0.81725	0.4883	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.83560	0.0106	10	0.87932	D	0	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	604;604	P48058;G3V164	GRIA4_HUMAN;.	C	604	ENSP00000282499:G604C;ENSP00000376835:G604C;ENSP00000435775:G604C;ENSP00000432180:G604C	ENSP00000282499:G604C	G	+	1	0	GRIA4	105300668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.496000	0.97967	2.878000	0.98634	0.650000	0.86243	GGT		0.453	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1	0			11:105795458
RPUSD4	84881	broad.mit.edu	37	11	126075456	126075456	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:126075456G>A	ENST00000298317.4	-	5	756	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	RPUSD4_ENST00000534393.1_5'Flank|RPUSD4_ENST00000533628.1_Intron	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	235					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CGGCTGCGCCGCACTTTCACC	0.552																																						ENST00000298317.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(703-705)Cgg>Tgg		RNA pseudouridylate synthase domain containing 4							129.0	117.0	121.0					11																	126075456		2201	4299	6500	SO:0001583	missense	84881				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr11:126075456G>A	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"""RNA pseudouridylate synthase domain containing"""	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.703C>T	11.37:g.126075456G>A	ENSP00000298317:p.Arg235Trp	False	False		Somatic	0				RPUSD4_ENST00000533628.1_Intron	p.R235W	NM_032795.2	NP_116184.2	WXS	Illumina HiSeq	Phase_I	Q96CM3	RUSD4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)	5	756	-	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	235					E9PML2|Q96K56	Missense_Mutation	SNP	ENST00000298317.4	37	c.703C>T	CCDS8469.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657801	0.67586	.	.	ENSG00000165526	ENST00000298317	T	0.14266	2.52	5.72	5.72	0.89469	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.191170	0.46758	D	0.000268	T	0.47340	0.1440	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.56733	-0.7930	10	0.87932	D	0	-23.4884	17.0528	0.86524	0.0:0.0:1.0:0.0	.	235	Q96CM3	RUSD4_HUMAN	W	235	ENSP00000298317:R235W	ENSP00000298317:R235W	R	-	1	2	RPUSD4	125580666	1.000000	0.71417	0.161000	0.22692	0.144000	0.21451	4.765000	0.62271	2.691000	0.91804	0.655000	0.94253	CGG		0.552	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	0	NM_032795		11:126075456
CDKN2AIP	55602	broad.mit.edu	37	4	184367721	184367721	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr4:184367721C>T	ENST00000504169.1	+	3	1091	c.884C>T	c.(883-885)tCc>tTc	p.S295F	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	295	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTGTTGGGCTCCTCAGGAAGC	0.468																																						ENST00000504169.1		NA																	0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(883-885)tCc>tTc		CDKN2A interacting protein							61.0	61.0	61.0					4																	184367721		2203	4300	6503	SO:0001583	missense	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367721C>T	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.884C>T	4.37:g.184367721C>T	ENSP00000427108:p.Ser295Phe	False	False		Somatic	0				CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	p.S295F	NM_017632.2	NP_060102.1	WXS	Illumina HiSeq	Phase_I	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	1091	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	295			Ser-rich.		Q8TBM5|Q9NYH0	Missense_Mutation	SNP	ENST00000504169.1	37	c.884C>T	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827967	0.32329	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.55	5.55	0.83447	.	0.683218	0.14266	N	0.330508	T	0.58380	0.2118	L	0.58101	1.795	0.80722	D	1	P	0.42123	0.771	B	0.39617	0.305	T	0.63457	-0.6633	9	0.72032	D	0.01	-6.0E-4	16.8133	0.85726	0.0:1.0:0.0:0.0	.	295	Q9NXV6	CARF_HUMAN	F	295	.	ENSP00000427108:S295F	S	+	2	0	CDKN2AIP	184604715	0.062000	0.20869	0.864000	0.33941	0.832000	0.47134	3.928000	0.56506	2.885000	0.99019	0.655000	0.94253	TCC		0.468	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	0	NM_017632		4:184367721
PRKCD	5580	broad.mit.edu	37	3	53223943	53223943	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr3:53223943C>A	ENST00000394729.2	+	17	2126	c.1798C>A	c.(1798-1800)Cac>Aac	p.H600N	PRKCD_ENST00000330452.3_Missense_Mutation_p.H600N	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	CATCAAAATCCACCCCTTCTT	0.547																																						ENST00000394729.2		NA																	0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1798-1800)Cac>Aac		protein kinase C, delta							221.0	210.0	214.0					3																	53223943		2203	4300	6503	SO:0001583	missense	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53223943C>A		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1798C>A	3.37:g.53223943C>A	ENSP00000378217:p.His600Asn	False	False		Somatic	0				PRKCD_ENST00000330452.3_Missense_Mutation_p.H600N	p.H600N	NM_212539.1	NP_997704.1	WXS	Illumina HiSeq	Phase_I	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	17	2126	+		Ovarian(412;0.0728)	600			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	c.1798C>A	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683651	0.88639	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.58358	0.34;0.34	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78355	0.4270	M	0.93016	3.37	0.80722	D	1	D	0.71674	0.998	D	0.64506	0.926	D	0.83726	0.0195	10	0.87932	D	0	.	17.8158	0.88634	0.0:1.0:0.0:0.0	.	600	Q05655	KPCD_HUMAN	N	600	ENSP00000378217:H600N;ENSP00000331602:H600N	ENSP00000331602:H600N	H	+	1	0	PRKCD	53198983	1.000000	0.71417	0.972000	0.41901	0.933000	0.57130	7.651000	0.83577	2.746000	0.94184	0.561000	0.74099	CAC		0.547	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1	0			3:53223943
ENTPD4	9583	broad.mit.edu	37	8	23290634	23290634	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr8:23290634G>A	ENST00000358689.4	-	13	1891	c.1656C>T	c.(1654-1656)caC>caT	p.H552H	ENTPD4_ENST00000417069.2_Silent_p.H544H|ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000521321.1_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	552					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GCCAGTGGGTGTGACTGGCTC	0.577																																						ENST00000358689.4		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1654-1656)caC>caT		ectonucleoside triphosphate diphosphohydrolase 4							47.0	51.0	49.0					8																	23290634		2203	4300	6503	SO:0001819	synonymous_variant	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23290634G>A	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1656C>T	8.37:g.23290634G>A		False	False		Somatic	0				ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000417069.2_Silent_p.H544H|ENTPD4_ENST00000521321.1_Intron	p.H552H	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	WXS	Illumina HiSeq	Phase_I	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	13	1891	-		Prostate(55;0.114)	552					D3DSS3|O15092	Silent	SNP	ENST00000358689.4	37	c.1656C>T	CCDS6041.1																																																																																				0.577	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	0	NM_004901		8:23290634
SPEN	23013	broad.mit.edu	37	1	16259754	16259754	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:16259754G>A	ENST00000375759.3	+	11	7223	c.7019G>A	c.(7018-7020)cGc>cAc	p.R2340H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2340	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R2340H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGATCACGCCGCAAGCGAAAC	0.512																																						ENST00000375759.3		NA																	1	Substitution - Missense(1)	p.R2340H(1)	large_intestine(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(7018-7020)cGc>cAc		spen family transcriptional repressor							86.0	97.0	93.0					1																	16259754		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259754G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7019G>A	1.37:g.16259754G>A	ENSP00000364912:p.Arg2340His	False	False		Somatic	0					p.R2340H	NM_015001.2	NP_055816.2	WXS	Illumina HiSeq	Phase_I	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	7223	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2340			Interaction with MSX2 (By similarity).|RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.7019G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645247	0.29246	.	.	ENSG00000065526	ENST00000375759	T	0.12255	2.7	4.84	4.84	0.62591	.	.	.	.	.	T	0.34687	0.0906	L	0.58101	1.795	0.43603	D	0.995968	D	0.71674	0.998	D	0.72075	0.976	T	0.05007	-1.0912	9	0.51188	T	0.08	-10.6068	17.9293	0.88992	0.0:0.0:1.0:0.0	.	2340	Q96T58	MINT_HUMAN	H	2340	ENSP00000364912:R2340H	ENSP00000364912:R2340H	R	+	2	0	SPEN	16132341	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	5.201000	0.65163	2.222000	0.72286	0.462000	0.41574	CGC		0.512	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	0	NM_015001		1:16259754
HTR2C	3358	broad.mit.edu	37	X	114141278	114141278	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:114141278C>T	ENST00000276198.1	+	6	1405	c.677C>T	c.(676-678)cCg>cTg	p.P226L	HTR2C_ENST00000371951.1_Missense_Mutation_p.P226L|HTR2C_ENST00000371950.3_Silent_p.T194T	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	226					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTCTTCATACCGCTGACGATT	0.507																																						ENST00000276198.1		NA																	0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(676-678)cCg>cTg		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						363.0	307.0	326.0					X																	114141278		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141278C>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.677C>T	X.37:g.114141278C>T	ENSP00000276198:p.Pro226Leu	False	False		Somatic	0				HTR2C_ENST00000371950.3_Silent_p.T194T|HTR2C_ENST00000371951.1_Missense_Mutation_p.P226L	p.P226L	NM_000868.2	NP_000859.1	WXS	Illumina HiSeq	Phase_I	P28335	5HT2C_HUMAN			6	1405	+			226					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.677C>T	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608978	0.87258	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.56103	0.48;0.48	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81336	0.4801	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87801	0.2625	10	0.87932	D	0	.	14.6716	0.68948	0.0:1.0:0.0:0.0	.	226	P28335	5HT2C_HUMAN	L	226	ENSP00000276198:P226L;ENSP00000361019:P226L	ENSP00000276198:P226L	P	+	2	0	HTR2C	114047534	1.000000	0.71417	0.982000	0.44146	0.957000	0.61999	7.715000	0.84713	2.135000	0.66039	0.538000	0.68166	CCG		0.507	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	0	NM_000868		X:114141278
FOXS1	2307	broad.mit.edu	37	20	30432696	30432696	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr20:30432696G>T	ENST00000375978.3	-	1	724	c.650C>A	c.(649-651)gCg>gAg	p.A217E		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	217					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						AAAGCCAAACGCTGGGCATGA	0.617																																						ENST00000375978.3		NA																	0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(649-651)gCg>gAg		forkhead box S1							45.0	45.0	45.0					20																	30432696		2203	4300	6503	SO:0001583	missense	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30432696G>T	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.650C>A	20.37:g.30432696G>T	ENSP00000365145:p.Ala217Glu	False	False		Somatic	0					p.A217E	NM_004118.3	NP_004109.1	WXS	Illumina HiSeq	Phase_I	O43638	FOXS1_HUMAN			1	724	-			217					Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.650C>A	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	8.593	0.884991	0.17540	.	.	ENSG00000179772	ENST00000375978	D	0.93133	-3.17	4.54	2.6	0.31112	.	0.701110	0.12224	N	0.488074	D	0.90765	0.7101	L	0.27053	0.805	0.22762	N	0.998769	P	0.50710	0.938	P	0.50970	0.655	T	0.82468	-0.0442	10	0.56958	D	0.05	.	9.7513	0.40477	0.1708:0.0:0.8292:0.0	.	217	O43638	FOXS1_HUMAN	E	217	ENSP00000365145:A217E	ENSP00000365145:A217E	A	-	2	0	FOXS1	29896357	0.702000	0.27816	0.396000	0.26296	0.110000	0.19582	1.762000	0.38451	0.554000	0.29061	-1.252000	0.01501	GCG		0.617	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	0	NM_004118		20:30432696
POTEF	728378	broad.mit.edu	37	2	130877733	130877733	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:130877733G>A	ENST00000409914.2	-	3	755	c.356C>T	c.(355-357)gCt>gTt	p.A119V	POTEF_ENST00000360967.5_Missense_Mutation_p.A119V|POTEF_ENST00000357462.5_Missense_Mutation_p.A119V|POTEF_ENST00000361163.4_Missense_Mutation_p.A119V	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	119					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTCTCCCCAAGCGCCCACCTT	0.587																																						ENST00000357462.5		NA																	0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(355-357)gCt>gTt		POTE ankyrin domain family, member F							63.0	83.0	76.0					2																	130877733		2202	4298	6500	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877733G>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.356C>T	2.37:g.130877733G>A	ENSP00000386786:p.Ala119Val	False	False		Somatic	0				POTEF_ENST00000361163.4_Missense_Mutation_p.A119V|POTEF_ENST00000360967.5_Missense_Mutation_p.A119V|POTEF_ENST00000409914.2_Missense_Mutation_p.A119V	p.A119V			WXS	Illumina HiSeq	Phase_I	A5A3E0	POTEF_HUMAN			1	449	-			119					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.356C>T	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	6.231	0.410709	0.11812	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.77098	-1.07;-1.07;1.76;1.68	0.409	-0.759	0.11045	.	.	.	.	.	T	0.65770	0.2723	L	0.43152	1.355	0.09310	N	1	B	0.17667	0.023	B	0.13407	0.009	T	0.55347	-0.8155	8	0.87932	D	0	.	.	.	.	.	119	A5A3E0	POTEF_HUMAN	V	119	ENSP00000350052:A119V;ENSP00000386786:A119V;ENSP00000354232:A119V;ENSP00000355012:A119V	ENSP00000350052:A119V	A	-	2	0	POTEF	130594203	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	-0.039000	0.12124	-0.439000	0.07222	0.173000	0.16961	GCT		0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	0	NM_001099771		2:130877733
SDR9C7	121214	broad.mit.edu	37	12	57327752	57327752	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr12:57327752G>A	ENST00000293502.1	-	1	437	c.294C>T	c.(292-294)ggC>ggT	p.G98G		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	98					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CACCTTGTTCGCCCACTTTGT	0.542																																						ENST00000293502.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(292-294)ggC>ggT		short chain dehydrogenase/reductase family 9C, member 7							99.0	90.0	93.0					12																	57327752		2203	4300	6503	SO:0001819	synonymous_variant	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57327752G>A	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.294C>T	12.37:g.57327752G>A		True	False		Somatic	0					p.G98G	NM_148897.2	NP_683695.1	WXS	Illumina HiSeq	Phase_I	Q8NEX9	DR9C7_HUMAN			1	437	-			98					B3KVB4	Silent	SNP	ENST00000293502.1	37	c.294C>T	CCDS8926.1																																																																																				0.542	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	0	NM_148897		12:57327752
MAP7	9053	broad.mit.edu	37	6	136681852	136681852	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:136681852G>T	ENST00000354570.3	-	13	2196	c.1786C>A	c.(1786-1788)Cgc>Agc	p.R596S	MAP7_ENST00000454590.1_Missense_Mutation_p.R618S|MAP7_ENST00000544465.1_Missense_Mutation_p.R581S|MAP7_ENST00000438100.2_Missense_Mutation_p.R581S|MAP7_ENST00000432797.2_Missense_Mutation_p.R450S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	596					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTCTCCAGGCGCTCTTGCTCT	0.542																																						ENST00000354570.3		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1786-1788)Cgc>Agc		microtubule-associated protein 7							315.0	342.0	333.0					6																	136681852		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136681852G>T	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1786C>A	6.37:g.136681852G>T	ENSP00000346581:p.Arg596Ser	False	False		Somatic	0				MAP7_ENST00000454590.1_Missense_Mutation_p.R618S|MAP7_ENST00000544465.1_Missense_Mutation_p.R581S|MAP7_ENST00000438100.2_Missense_Mutation_p.R581S|MAP7_ENST00000432797.2_Missense_Mutation_p.R450S	p.R596S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	WXS	Illumina HiSeq	Phase_I	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	13	2196	-	Colorectal(23;0.24)		596					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.1786C>A	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876311	0.51801	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.62	5.62	0.85841	.	0.000000	0.53938	D	0.000045	T	0.61937	0.2387	M	0.91818	3.245	0.48901	D	0.999723	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.994;0.997;0.999;1.0;0.999	T	0.70022	-0.4986	10	0.72032	D	0.01	-9.7161	14.1681	0.65490	0.0:0.0:0.8502:0.1498	.	581;618;581;618;502;559;596	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	S	596;618;581;581;450;502	ENSP00000346581:R596S;ENSP00000414712:R618S;ENSP00000445737:R581S;ENSP00000400790:R581S;ENSP00000414879:R450S	ENSP00000344217:R502S	R	-	1	0	MAP7	136723545	1.000000	0.71417	0.998000	0.56505	0.122000	0.20287	4.801000	0.62532	2.660000	0.90430	0.655000	0.94253	CGC		0.542	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	0	NM_003980		6:136681852
TBC1D8	11138	broad.mit.edu	37	2	101666884	101666884	+	Missense_Mutation	SNP	T	T	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:101666884T>A	ENST00000376840.4	-	5	805	c.806A>T	c.(805-807)gAg>gTg	p.E269V	TBC1D8_ENST00000409318.1_Missense_Mutation_p.E284V			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	269					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CTGGCTCGGCTCCTGCAGATC	0.562																																						ENST00000409318.1		NA																	0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(850-852)gAg>gTg		TBC1 domain family, member 8 (with GRAM domain)							44.0	47.0	46.0					2																	101666884		1996	4168	6164	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101666884T>A	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.806A>T	2.37:g.101666884T>A	ENSP00000366036:p.Glu269Val	True	False		Somatic	0				TBC1D8_ENST00000376840.4_Missense_Mutation_p.E269V	p.E284V	NM_001102426.1	NP_001095896.1	WXS	Illumina HiSeq	Phase_I	O95759	TBCD8_HUMAN			5	981	-			269					A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.851A>T	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.165069	0.78339	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03441	3.93;3.95	5.37	5.37	0.77165	.	0.170745	0.41097	D	0.000946	T	0.04182	0.0116	N	0.14661	0.345	0.46849	D	0.999228	P;P	0.40794	0.59;0.729	B;B	0.42771	0.157;0.397	T	0.55573	-0.8120	10	0.56958	D	0.05	-29.5755	15.3821	0.74664	0.0:0.0:0.0:1.0	.	284;269	B7Z6L4;O95759	.;TBCD8_HUMAN	V	269;284	ENSP00000366036:E269V;ENSP00000386856:E284V	ENSP00000366036:E269V	E	-	2	0	TBC1D8	101033316	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	5.995000	0.70631	2.032000	0.59987	0.459000	0.35465	GAG		0.562	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	0	NM_007063		2:101666884
BNC2	54796	broad.mit.edu	37	9	16435989	16435989	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:16435989C>T	ENST00000380672.4	-	6	2260	c.2203G>A	c.(2203-2205)Gag>Aag	p.E735K	BNC2_ENST00000545497.1_Missense_Mutation_p.E640K|BNC2_ENST00000380667.2_Missense_Mutation_p.E668K|BNC2_ENST00000380666.2_Missense_Mutation_p.E735K	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATGGATTCCTCGCCCAGTTTG	0.512																																						ENST00000380672.4		NA																	0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(2203-2205)Gag>Aag		basonuclin 2							103.0	90.0	94.0					9																	16435989		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16435989C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2203G>A	9.37:g.16435989C>T	ENSP00000370047:p.Glu735Lys	False	False		Somatic	0				BNC2_ENST00000380666.2_Missense_Mutation_p.E735K|BNC2_ENST00000545497.1_Missense_Mutation_p.E640K|BNC2_ENST00000380667.2_Missense_Mutation_p.E668K	p.E735K	NM_017637.5	NP_060107.3	WXS	Illumina HiSeq	Phase_I	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	2260	-			735						Missense_Mutation	SNP	ENST00000380672.4	37	c.2203G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494610	0.44352	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.46063	1.49;0.88;1.5;1.51;1.5;1.49	5.56	5.56	0.83823	.	0.154450	0.56097	D	0.000021	T	0.25121	0.0610	L	0.27053	0.805	0.80722	D	1	P;P;P;P;P;P;P;P;B	0.43885	0.641;0.725;0.82;0.82;0.681;0.509;0.509;0.725;0.327	B;B;B;B;B;B;B;B;B	0.25291	0.054;0.024;0.054;0.054;0.04;0.024;0.024;0.059;0.018	T	0.13818	-1.0495	10	0.11182	T	0.66	-9.5392	19.5353	0.95251	0.0:1.0:0.0:0.0	.	640;668;735;561;735;692;735;640;500	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	K	735;128;692;668;640;561;735;735	ENSP00000370047:E735K;ENSP00000392212:E128K;ENSP00000408370:E692K;ENSP00000370042:E668K;ENSP00000444640:E640K;ENSP00000370041:E735K	ENSP00000370041:E735K	E	-	1	0	BNC2	16425989	1.000000	0.71417	0.980000	0.43619	0.794000	0.44872	4.921000	0.63397	2.618000	0.88619	0.650000	0.86243	GAG		0.512	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	0	NM_017637		9:16435989
NUMA1	4926	broad.mit.edu	37	11	71726747	71726747	+	Missense_Mutation	SNP	G	G	A	rs548451727	byFrequency	TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:71726747G>A	ENST00000393695.3	-	15	2133	c.1802C>T	c.(1801-1803)gCg>gTg	p.A601V	NUMA1_ENST00000358965.6_Missense_Mutation_p.A601V|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.A601V(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTTGAGAGCCGCATCCCGCTC	0.607			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0	0.0	5008	,	,		20308	0.0		0.0	False		,,,				2504	0.002					ENST00000393695.3		NA		Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		1	Substitution - Missense(1)	p.A601V(1)	ovary(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(1801-1803)gCg>gTg		nuclear mitotic apparatus protein 1							50.0	49.0	50.0					11																	71726747		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71726747G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1802C>T	11.37:g.71726747G>A	ENSP00000377298:p.Ala601Val	False	False		Somatic	0	OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1132	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.A601V|RP11-849H4.4_ENST00000502284.1_RNA	p.A601V	NM_006185.2	NP_006176.2	WXS	Illumina HiSeq	Phase_I	Q14980	NUMA1_HUMAN			15	2133	-			601						Missense_Mutation	SNP	ENST00000393695.3	37	c.1802C>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746868	0.30955	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000542977;ENST00000537217	T;T;T;T	0.47528	2.65;2.66;1.44;0.84	6.07	2.94	0.34122	.	1.010270	0.07941	N	0.979168	T	0.30039	0.0752	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.15473	0.005;0.013;0.013;0.013	B;B;B;B	0.13407	0.006;0.009;0.006;0.006	T	0.15009	-1.0452	10	0.40728	T	0.16	.	6.3435	0.21337	0.0709:0.2401:0.5658:0.1233	.	607;85;601;601	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	V	601;601;164;601;601	ENSP00000351851:A601V;ENSP00000377298:A601V;ENSP00000444880:A601V;ENSP00000442936:A601V	ENSP00000351851:A601V	A	-	2	0	NUMA1	71404395	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	0.628000	0.24522	1.543000	0.49345	0.655000	0.94253	GCG		0.607	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1	0			11:71726747
CORO2A	7464	broad.mit.edu	37	9	100895437	100895437	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:100895437G>A	ENST00000343933.5	-	5	788	c.531C>T	c.(529-531)agC>agT	p.S177S	CORO2A_ENST00000375077.4_Silent_p.S177S	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	177					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CTTGGTGACAGCTAATCGTAC	0.547																																						ENST00000343933.5		NA																	0				endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26						c.(529-531)agC>agT		coronin, actin binding protein, 2A							290.0	216.0	241.0					9																	100895437		2203	4300	6503	SO:0001819	synonymous_variant	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100895437G>A	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.531C>T	9.37:g.100895437G>A		False	False		Somatic	0				CORO2A_ENST00000375077.4_Silent_p.S177S	p.S177S	NM_003389.3	NP_003380.3	WXS	Illumina HiSeq	Phase_I	Q92828	COR2A_HUMAN			5	788	-		Acute lymphoblastic leukemia(62;0.0559)	177					Q5TBR5|Q92829|Q9BWS5	Silent	SNP	ENST00000343933.5	37	c.531C>T	CCDS6735.1																																																																																				0.547	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	0	NM_003389		9:100895437
SLC2A7	155184	broad.mit.edu	37	1	9067394	9067394	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:9067394G>A	ENST00000400906.1	-	10	1166	c.1167C>T	c.(1165-1167)taC>taT	p.Y389Y		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	389					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GTCCCGCGATGTAGGCAAAGA	0.642																																						ENST00000400906.1		NA																	0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24						c.(1165-1167)taC>taT		solute carrier family 2 (facilitated glucose transporter), member 7							155.0	118.0	130.0					1																	9067394		2203	4300	6503	SO:0001819	synonymous_variant	155184					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr1:9067394G>A	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.1167C>T	1.37:g.9067394G>A		False	False		Somatic	0					p.Y389Y	NM_207420.2	NP_997303.2	WXS	Illumina HiSeq	Phase_I	Q6PXP3	GTR7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	10	1166	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	389					A2A333	Silent	SNP	ENST00000400906.1	37	c.1167C>T	CCDS98.2																																																																																				0.642	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	0	NM_207420		1:9067394
ZKSCAN2	342357	broad.mit.edu	37	16	25255452	25255452	+	Silent	SNP	C	C	G			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr16:25255452C>G	ENST00000328086.7	-	6	2438	c.1635G>C	c.(1633-1635)cgG>cgC	p.R545R		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	545					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GTTCTGGTGTCCGGAGGAAGC	0.517																																						ENST00000328086.7		NA																	0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(1633-1635)cgG>cgC		zinc finger with KRAB and SCAN domains 2							79.0	78.0	78.0					16																	25255452		2197	4300	6497	SO:0001819	synonymous_variant	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25255452C>G	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1635G>C	16.37:g.25255452C>G		False	False		Somatic	0					p.R545R	NM_001012981.4	NP_001012999.3	WXS	Illumina HiSeq	Phase_I	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	6	2438	-			545					A1L3B4|Q6ZN77	Silent	SNP	ENST00000328086.7	37	c.1635G>C	CCDS32410.1																																																																																				0.517	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	0	NM_001012981		16:25255452
ZNF222	7673	broad.mit.edu	37	19	44536890	44536890	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:44536890G>A	ENST00000187879.8	+	4	1225	c.1063G>A	c.(1063-1065)Ggt>Agt	p.G355S	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.G395S	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TAGTAAGTCAGGTCTTGACTT	0.428																																						ENST00000187879.8		NA																	0				endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1063-1065)Ggt>Agt		zinc finger protein 222							103.0	100.0	101.0					19																	44536890		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44536890G>A	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.1063G>A	19.37:g.44536890G>A	ENSP00000187879:p.Gly355Ser	False	False		Somatic	0				ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.G395S	p.G355S	NM_013360.2	NP_037492.2	WXS	Illumina HiSeq	Phase_I	Q9UK12	ZN222_HUMAN			4	1225	+		Prostate(69;0.0435)	355					G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	c.1063G>A	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	G	5.333	0.246710	0.10130	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.07216	3.21;3.21	2.79	-5.58	0.02512	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01730	0.0055	N	0.00599	-1.345	0.09310	N	1	P;P	0.41345	0.746;0.571	P;B	0.44518	0.452;0.403	T	0.09250	-1.0683	9	0.02654	T	1	.	2.5051	0.04643	0.1309:0.3914:0.2764:0.2013	.	395;355	G5E9B9;Q9UK12	.;ZN222_HUMAN	S	395;355;301	ENSP00000375822:G395S;ENSP00000187879:G355S	ENSP00000187879:G355S	G	+	1	0	ZNF222	49228730	0.000000	0.05858	0.000000	0.03702	0.761000	0.43186	-9.786000	0.00009	-2.800000	0.00352	0.205000	0.17691	GGT		0.428	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2	0			19:44536890
PLEKHA5	54477	broad.mit.edu	37	12	19511180	19511180	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr12:19511180G>A	ENST00000299275.6	+	21	2665	c.2659G>A	c.(2659-2661)Gtg>Atg	p.V887M	PLEKHA5_ENST00000429027.2_Missense_Mutation_p.V1053M|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.V945M|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.V645M|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.V869M|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.V831M|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.V950M|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.V945M|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.V876M	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	887					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAGAAGTGCAGTGGAACAGCT	0.373																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1		NA																	0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2833-2835)Gtg>Atg		pleckstrin homology domain containing, family A member 5							88.0	76.0	80.0					12																	19511180		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19511180G>A	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2659G>A	12.37:g.19511180G>A	ENSP00000299275:p.Val887Met	False	False		Somatic	0				PLEKHA5_ENST00000429027.2_Missense_Mutation_p.V1053M|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.V645M|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.V869M|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.V876M|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.V945M|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.V831M|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.V950M|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.V887M	p.V945M	NM_001143821.2	NP_001137293.2	WXS	Illumina HiSeq	Phase_I	Q9HAU0	PKHA5_HUMAN			23	2837	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		887					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.2833G>A	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019709	0.75275	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.29917	2.9;2.9;1.55;2.9;2.9;2.9;2.9;2.9;2.9;2.9;1.55	5.36	5.36	0.76844	.	0.130140	0.51477	D	0.000083	T	0.52517	0.1739	L	0.50919	1.6	0.45883	D	0.998737	D;D;D;D;D;D;P;D	0.89917	0.998;0.958;0.964;0.998;1.0;1.0;0.93;0.958	D;P;P;D;D;D;P;P	0.91635	0.994;0.793;0.625;0.938;0.999;0.99;0.625;0.793	T	0.48843	-0.8999	10	0.59425	D	0.04	-18.2607	19.3318	0.94293	0.0:0.0:1.0:0.0	.	950;869;876;1048;831;1053;887;945	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	M	950;945;831;1049;1053;887;645;945;876;869;842;168	ENSP00000325155:V950M;ENSP00000347560:V945M;ENSP00000352104:V831M;ENSP00000404296:V1053M;ENSP00000299275:V887M;ENSP00000440611:V645M;ENSP00000439673:V945M;ENSP00000400411:V876M;ENSP00000439837:V869M;ENSP00000440371:V842M;ENSP00000443553:V168M	ENSP00000299275:V887M	V	+	1	0	PLEKHA5	19402447	1.000000	0.71417	0.989000	0.46669	0.826000	0.46750	6.847000	0.75404	2.805000	0.96524	0.551000	0.68910	GTG		0.373	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	0	NM_019012		12:19511180
MCCC1	56922	broad.mit.edu	37	3	182733294	182733294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr3:182733294G>A	ENST00000265594.4	-	19	2256	c.2110C>T	c.(2110-2112)Cag>Tag	p.Q704*	MCCC1_ENST00000492597.1_Nonsense_Mutation_p.Q595*|MCCC1-AS1_ENST00000471731.2_RNA	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	704	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTGTTGGCCTGAGCACCTTCT	0.443																																						ENST00000492597.1		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40						c.(1783-1785)Cag>Tag		methylcrotonoyl-CoA carboxylase 1 (alpha)	Biotin(DB00121)						332.0	310.0	317.0					3																	182733294		2203	4300	6503	SO:0001587	stop_gained	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182733294G>A	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.2110C>T	3.37:g.182733294G>A	ENSP00000265594:p.Gln704*	False	False		Somatic	0				MCCC1_ENST00000265594.4_Nonsense_Mutation_p.Q704*	p.Q595*			WXS	Illumina HiSeq	Phase_I	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		18	2485	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		704					Q59ES4|Q9H959|Q9NS97	Nonsense_Mutation	SNP	ENST00000265594.4	37	c.1783C>T	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	G	39	7.879796	0.98539	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	17.9868	0.89158	0.0:0.0:1.0:0.0	.	.	.	.	X	704;595;554	.	ENSP00000265594:Q704X	Q	-	1	0	MCCC1	184215988	1.000000	0.71417	0.954000	0.39281	0.976000	0.68499	5.982000	0.70532	2.530000	0.85305	0.511000	0.50034	CAG		0.443	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	0	NM_020166		3:182733294
GPM6B	2824	broad.mit.edu	37	X	13801502	13801502	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:13801502G>A	ENST00000356942.5	-	3	828	c.387C>T	c.(385-387)ggC>ggT	p.G129G	GPM6B_ENST00000355135.2_Silent_p.G169G|GPM6B_ENST00000398361.3_Silent_p.G43G|GPM6B_ENST00000316715.4_Silent_p.G169G|GPM6B_ENST00000493677.1_Silent_p.G143G|GPM6B_ENST00000454189.2_Silent_p.G110G	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	129					cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						TGATGCATCGGCCACAAGCGG	0.428																																						ENST00000454189.2		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						c.(328-330)ggC>ggT		glycoprotein M6B							147.0	123.0	131.0					X																	13801502		2203	4300	6503	SO:0001819	synonymous_variant	2824				cell differentiation|nervous system development	integral to membrane		g.chrX:13801502G>A		CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653			4461	protein-coding gene	gene with protein product		300051				8661015	Standard	NM_001001995		Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000356942.5:c.387C>T	X.37:g.13801502G>A		False	False		Somatic	0				GPM6B_ENST00000398361.3_Silent_p.G43G|GPM6B_ENST00000356942.5_Silent_p.G129G|GPM6B_ENST00000316715.4_Silent_p.G169G|GPM6B_ENST00000493677.1_Silent_p.G143G|GPM6B_ENST00000355135.2_Silent_p.G169G	p.G110G	NM_001001994.1	NP_001001994.1	WXS	Illumina HiSeq	Phase_I	Q13491	GPM6B_HUMAN			3	457	-			129					O76077|Q86X43|Q8N956	Silent	SNP	ENST00000356942.5	37	c.330C>T	CCDS14158.1																																																																																				0.428	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055822.1	0	NM_001001995		X:13801502
COL1A1	1277	broad.mit.edu	37	17	48273888	48273888	+	Splice_Site	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:48273888C>T	ENST00000225964.5	-	13	978	c.860G>A	c.(859-861)gGt>gAt	p.G287D		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	287	Triple-helical region.		G -> S (in OI1). {ECO:0000269|PubMed:17875077}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GCCAGGCTCACCCTGTAGATC	0.547			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5		NA		Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(859-861)gGt>gAt		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						140.0	139.0	139.0					17																	48273888		2203	4300	6503	SO:0001630	splice_region_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48273888C>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.859-1G>A	17.37:g.48273888C>T		True	False		Somatic	0					p.G287D	NM_000088.3	NP_000079	WXS	Illumina HiSeq	Phase_I	P02452	CO1A1_HUMAN			13	978	-			287		G -> S (in OI1).	Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Splice_Site	SNP	ENST00000225964.5	37	c.860G>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951442	0.73787	.	.	ENSG00000108821	ENST00000225964	D	0.99353	-5.77	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.99711	0.9889	H	0.98883	4.36	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.97059	0.9769	10	0.87932	D	0	.	17.1838	0.86861	0.0:1.0:0.0:0.0	.	287	P02452	CO1A1_HUMAN	D	287	ENSP00000225964:G287D	ENSP00000225964:G287D	G	-	2	0	COL1A1	45628887	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.001000	0.70685	2.353000	0.79882	0.491000	0.48974	GGT		0.547	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2	0		Missense_Mutation	17:48273888
GLUD2	2747	broad.mit.edu	37	X	120181966	120181966	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:120181966G>A	ENST00000328078.1	+	1	505	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	143					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						AGCCAGCACCGCACGCCCTGC	0.567																																						ENST00000328078.1		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(427-429)cGc>cAc		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						75.0	56.0	62.0					X																	120181966		2202	4300	6502	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181966G>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.428G>A	X.37:g.120181966G>A	ENSP00000327589:p.Arg143His	False	False		Somatic	0					p.R143H	NM_012084.3	NP_036216.2	WXS	Illumina HiSeq	Phase_I	P49448	DHE4_HUMAN			1	505	+			143					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.428G>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447586	0.63178	.	.	ENSG00000182890	ENST00000328078	D	0.97016	-4.21	1.8	0.91	0.19337	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.059193	0.64402	D	0.000004	D	0.97390	0.9146	H	0.97491	4.015	0.52501	D	0.999954	P	0.48640	0.913	P	0.49226	0.603	D	0.95406	0.8494	10	0.87932	D	0	.	6.0866	0.19970	0.1851:0.0:0.8149:0.0	.	143	P49448	DHE4_HUMAN	H	143	ENSP00000327589:R143H	ENSP00000327589:R143H	R	+	2	0	GLUD2	120009647	1.000000	0.71417	0.963000	0.40424	0.926000	0.56050	4.515000	0.60489	0.259000	0.21709	-0.412000	0.06146	CGC		0.567	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	0	NM_012084		X:120181966
ACR	49	broad.mit.edu	37	22	51177896	51177896	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr22:51177896G>A	ENST00000216139.5	+	2	315	c.275G>A	c.(274-276)gGc>gAc	p.G92D	AC002056.5_ENST00000532913.1_RNA|AC000036.4_ENST00000449652.1_RNA|ACR_ENST00000529621.1_Missense_Mutation_p.G92D	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	92	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTTCGTCGGCAAAAAGTAC	0.577																																						ENST00000216139.5		NA																	0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(274-276)gGc>gAc		acrosin							83.0	61.0	69.0					22																	51177896		2203	4300	6503	SO:0001583	missense	49				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding	g.chr22:51177896G>A	CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.275G>A	22.37:g.51177896G>A	ENSP00000216139:p.Gly92Asp	False	False		Somatic	0				ACR_ENST00000529621.1_Missense_Mutation_p.G92D	p.G92D	NM_001097.2	NP_001088.2	WXS	Illumina HiSeq	Phase_I	P10323	ACRO_HUMAN		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)	2	315	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	92			Peptidase S1.		Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	c.275G>A	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	G	1.906	-0.451991	0.04540	.	.	ENSG00000100312	ENST00000216139;ENST00000529621	D;D	0.88586	-2.4;-2.4	3.9	-7.79	0.01218	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	3.666060	0.01180	N	0.007063	T	0.69223	0.3087	N	0.05414	-0.055	0.09310	N	1	B;B	0.14012	0.001;0.009	B;B	0.16722	0.007;0.016	T	0.68659	-0.5350	10	0.08179	T	0.78	-0.0143	0.5119	0.00597	0.3086:0.2319:0.2598:0.1997	.	92;92	E9PLV5;P10323	.;ACRO_HUMAN	D	92	ENSP00000216139:G92D;ENSP00000435120:G92D	ENSP00000216139:G92D	G	+	2	0	ACR	49524762	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.692000	0.01918	-2.104000	0.00843	0.462000	0.41574	GGC		0.577	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	0	NM_001097		22:51177896
SPTA1	6708	broad.mit.edu	37	1	158636124	158636124	+	Silent	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:158636124C>T	ENST00000368147.4	-	16	2382	c.2202G>A	c.(2200-2202)tcG>tcA	p.S734S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	734					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCCACAGCCGACTCCAGGA	0.502																																						ENST00000368147.4		NA																	0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2200-2202)tcG>tcA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							38.0	41.0	40.0					1																	158636124		1964	4160	6124	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158636124C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2202G>A	1.37:g.158636124C>T		False	False		Somatic	0					p.S734S	NM_003126.2	NP_003117.2	WXS	Illumina HiSeq	Phase_I	P02549	SPTA1_HUMAN			16	2382	-	all_hematologic(112;0.0378)		NA					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.2202G>A	CCDS41423.1																																																																																				0.502	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	0	NM_003126		1:158636124
AKAP12	9590	broad.mit.edu	37	6	151669953	151669953	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:151669953C>A	ENST00000253332.1	+	3	616	c.427C>A	c.(427-429)Ccc>Acc	p.P143T	snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000354675.6_Missense_Mutation_p.P45T|AKAP12_ENST00000359755.5_Missense_Mutation_p.P38T|AKAP12_ENST00000402676.2_Missense_Mutation_p.P143T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	143				TPEI -> NRN (in Ref. 1; AAC51366). {ECO:0000305}.	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)		GGAGGAGACACCCGAAATAAT	0.438																																					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.(427-429)Ccc>Acc		A kinase (PRKA) anchor protein 12							98.0	89.0	92.0					6																	151669953		2203	4300	6503	SO:0001583	missense	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.chr6:151669953C>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.427C>A	6.37:g.151669953C>A	ENSP00000253332:p.Pro143Thr	True	False		Somatic	0				AKAP12_ENST00000354675.6_Missense_Mutation_p.P45T|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000253332.1_Missense_Mutation_p.P143T|AKAP12_ENST00000359755.5_Missense_Mutation_p.P38T	p.P143T	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	667	+		Ovarian(120;0.125)	143	TPEI -> NRN (in Ref. 1; AAC51366).				O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.427C>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.770336	0.49680	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07114	3.22;3.22;3.23;3.23	5.55	3.74	0.42951	.	0.196693	0.25464	N	0.030494	T	0.03011	0.0089	L	0.58101	1.795	0.09310	N	0.999998	P;P;P	0.42692	0.759;0.759;0.787	B;B;B	0.35655	0.207;0.207;0.102	T	0.37314	-0.9711	10	0.30078	T	0.28	.	10.6995	0.45918	0.0:0.8402:0.0:0.1598	.	38;45;143	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	T	143;143;45;38	ENSP00000384537:P143T;ENSP00000253332:P143T;ENSP00000346702:P45T;ENSP00000352794:P38T	ENSP00000253332:P143T	P	+	1	0	AKAP12	151711646	0.001000	0.12720	0.044000	0.18714	0.005000	0.04900	0.299000	0.19138	0.788000	0.33755	0.563000	0.77884	CCC		0.438	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1	0			6:151669953
TMEM164	84187	broad.mit.edu	37	X	109352318	109352318	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:109352318C>A	ENST00000372073.1	+	4	787	c.451C>A	c.(451-453)Cac>Aac	p.H151N	TMEM164_ENST00000372068.2_Missense_Mutation_p.H151N|TMEM164_ENST00000372072.3_Missense_Mutation_p.H2N|TMEM164_ENST00000288381.4_Intron			Q5U3C3	TM164_HUMAN	transmembrane protein 164	151						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GCTACAGATGCACATGTTGAA	0.458																																						ENST00000372073.1		NA																	0				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						c.(451-453)Cac>Aac		transmembrane protein 164							236.0	196.0	210.0					X																	109352318		2203	4300	6503	SO:0001583	missense	84187					integral to membrane		g.chrX:109352318C>A	AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.451C>A	X.37:g.109352318C>A	ENSP00000361143:p.His151Asn	False	False		Somatic	0				TMEM164_ENST00000288381.4_Intron|TMEM164_ENST00000372068.2_Missense_Mutation_p.H151N|TMEM164_ENST00000372072.3_Missense_Mutation_p.H2N	p.H151N			WXS	Illumina HiSeq	Phase_I	Q5U3C3	TM164_HUMAN			4	787	+			151					B3KSQ8|F5H2P2	Missense_Mutation	SNP	ENST00000372073.1	37	c.451C>A	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418339	0.25552	.	.	ENSG00000157600	ENST00000372072;ENST00000372073;ENST00000372068	T;T;T	0.41758	0.99;0.99;0.99	5.92	5.05	0.67936	.	0.043304	0.85682	N	0.000000	T	0.31606	0.0802	L	0.35593	1.075	0.49582	D	0.999802	P	0.47191	0.891	B	0.41510	0.359	T	0.03784	-1.1004	10	0.22109	T	0.4	-5.2934	11.4735	0.50284	0.1789:0.8211:0.0:0.0	.	151	Q5U3C3	TM164_HUMAN	N	2;151;151	ENSP00000384075:H2N;ENSP00000361143:H151N;ENSP00000361138:H151N	ENSP00000361138:H151N	H	+	1	0	TMEM164	109238974	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.103000	0.50298	1.246000	0.43901	0.600000	0.82982	CAC		0.458	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	0	NM_032227		X:109352318
FSTL5	56884	broad.mit.edu	37	4	162459317	162459317	+	Splice_Site	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr4:162459317C>T	ENST00000306100.5	-	10	1749		c.e10+1		FSTL5_ENST00000427802.2_Splice_Site|FSTL5_ENST00000379164.4_Splice_Site|FSTL5_ENST00000536695.1_Splice_Site	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5							extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTATACATACGGGTCTTTCT	0.393																																						ENST00000306100.5		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.e10+1		follistatin-like 5							246.0	227.0	234.0					4																	162459317		2203	4300	6503	SO:0001630	splice_region_variant	56884					extracellular region	calcium ion binding	g.chr4:162459317C>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1312+1G>A	4.37:g.162459317C>T		True	False		Somatic	0				FSTL5_ENST00000427802.2_Splice_Site|FSTL5_ENST00000379164.4_Splice_Site|FSTL5_ENST00000536695.1_Splice_Site		NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	WXS	Illumina HiSeq	Phase_I	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	10	1749	-	all_hematologic(180;0.24)		NA					E9PCP6|Q9NSW7|Q9ULF7	Splice_Site	SNP	ENST00000306100.5	37		CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558760	0.86231	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.027	0.89272	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FSTL5	162678767	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.398000	0.79919	2.545000	0.85829	0.563000	0.77884	.		0.393	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	0	NM_020116	Intron	4:162459317
RNF149	284996	broad.mit.edu	37	2	101898332	101898332	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:101898332G>A	ENST00000295317.3	-	6	1255	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	383					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						TAGCAATGCCGTATTTTCTCC	0.488																																					Colon(25;331 612 6521 7355 31028)	ENST00000295317.3		NA																	0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(1147-1149)aCg>aTg		ring finger protein 149							151.0	135.0	141.0					2																	101898332		2203	4300	6503	SO:0001583	missense	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101898332G>A	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.1148C>T	2.37:g.101898332G>A	ENSP00000295317:p.Thr383Met	False	False		Somatic	0					p.T383M	NM_173647.3	NP_775918.2	WXS	Illumina HiSeq	Phase_I	Q8NC42	RN149_HUMAN			6	1255	-			383					Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	c.1148C>T	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068139	0.36470	.	.	ENSG00000163162	ENST00000295317	T	0.09723	2.95	5.63	4.75	0.60458	.	0.656945	0.14405	N	0.321662	T	0.18341	0.0440	L	0.59436	1.845	0.46823	D	0.999213	D	0.63046	0.992	P	0.48227	0.571	T	0.01670	-1.1299	10	0.38643	T	0.18	.	14.0098	0.64488	0.073:0.0:0.927:0.0	.	383	Q8NC42	RN149_HUMAN	M	383	ENSP00000295317:T383M	ENSP00000295317:T383M	T	-	2	0	RNF149	101264764	1.000000	0.71417	0.078000	0.20375	0.013000	0.08279	3.295000	0.51794	1.376000	0.46267	0.563000	0.77884	ACG		0.488	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	0	NM_173647		2:101898332
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
ME2	4200	broad.mit.edu	37	18	48447031	48447031	+	Splice_Site	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr18:48447031G>A	ENST00000321341.5	+	9	1117	c.845G>A	c.(844-846)gGg>gAg	p.G282E	ME2_ENST00000382927.3_Splice_Site_p.G282E	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	282					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		TTTCTTACAGGGACAGCTGCA	0.348																																						ENST00000321341.5		NA																	0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(844-846)gGg>gAg		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						50.0	53.0	52.0					18																	48447031		2202	4297	6499	SO:0001630	splice_region_variant	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48447031G>A	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.845-1G>A	18.37:g.48447031G>A		True	False		Somatic	0				ME2_ENST00000382927.3_Splice_Site_p.G282E	p.G282E	NM_002396.4	NP_002387.1	WXS	Illumina HiSeq	Phase_I	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	9	1117	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	282					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Splice_Site	SNP	ENST00000321341.5	37	c.845G>A	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918676	0.73098	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.78246	-1.16;-1.16	5.73	5.73	0.89815	Malic enzyme, conserved site (1);Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94857	0.8018	9	.	.	.	.	18.6849	0.91559	0.0:0.0:1.0:0.0	.	282;282	Q9BWL6;P23368	.;MAOM_HUMAN	E	282	ENSP00000321070:G282E;ENSP00000372384:G282E	.	G	+	2	0	ME2	46701029	1.000000	0.71417	0.996000	0.52242	0.392000	0.30506	9.833000	0.99426	2.719000	0.93026	0.637000	0.83480	GGG		0.348	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	0	NM_002396	Missense_Mutation	18:48447031
OSBPL6	114880	broad.mit.edu	37	2	179197717	179197717	+	Silent	SNP	G	G	A	rs201891138		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:179197717G>A	ENST00000190611.4	+	8	982	c.606G>A	c.(604-606)acG>acA	p.T202T	OSBPL6_ENST00000357080.4_Silent_p.T202T|OSBPL6_ENST00000409631.1_Silent_p.T202T|OSBPL6_ENST00000392505.2_Silent_p.T202T|OSBPL6_ENST00000359685.3_Silent_p.T202T|OSBPL6_ENST00000315022.2_Silent_p.T181T|OSBPL6_ENST00000409045.3_Silent_p.T202T	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	202					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCCTTCAACGTCCACAGCTG	0.393													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21723	0.0		0.0	False		,,,				2504	0.0					ENST00000190611.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(604-606)acG>acA		oxysterol binding protein-like 6							105.0	92.0	97.0					2																	179197717		2203	4300	6503	SO:0001819	synonymous_variant	114880				lipid transport		lipid binding	g.chr2:179197717G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.606G>A	2.37:g.179197717G>A		False	False		Somatic	0				OSBPL6_ENST00000409631.1_Silent_p.T202T|OSBPL6_ENST00000392505.2_Silent_p.T202T|OSBPL6_ENST00000315022.2_Silent_p.T181T|OSBPL6_ENST00000359685.3_Silent_p.T202T|OSBPL6_ENST00000357080.4_Silent_p.T202T|OSBPL6_ENST00000409045.3_Silent_p.T202T	p.T202T	NM_032523.3	NP_115912.1	WXS	Illumina HiSeq	Phase_I	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		8	982	+			202					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	c.606G>A	CCDS2277.1																																																																																				0.393	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	0	NM_032523		2:179197717
TRNT1	51095	broad.mit.edu	37	3	3189309	3189309	+	Silent	SNP	A	A	C			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr3:3189309A>C	ENST00000251607.6	+	7	1080	c.978A>C	c.(976-978)atA>atC	p.I326I	TRNT1_ENST00000280591.6_Silent_p.I306I	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	326					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		GCTTATTTATAGTTAAAAATA	0.328																																						ENST00000251607.6		NA																	0				breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12						c.(976-978)atA>atC		tRNA nucleotidyl transferase, CCA-adding, 1							53.0	60.0	58.0					3																	3189309		2184	4293	6477	SO:0001819	synonymous_variant	51095				protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding	g.chr3:3189309A>C	AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.978A>C	3.37:g.3189309A>C		True	False		Somatic	0				TRNT1_ENST00000280591.6_Silent_p.I306I	p.I326I	NM_182916.2	NP_886552	WXS	Illumina HiSeq	Phase_I	Q96Q11	TRNT1_HUMAN		Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)	7	1080	+			326					A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Silent	SNP	ENST00000251607.6	37	c.978A>C	CCDS2561.2																																																																																				0.328	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1	0			3:3189309
TUBAL3	79861	broad.mit.edu	37	10	5443000	5443000	+	Silent	SNP	G	G	A	rs148158899		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr10:5443000G>A	ENST00000380419.3	-	2	91	c.54C>T	c.(52-54)gaC>gaT	p.D18D	TUBAL3_ENST00000479328.1_Intron	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	18					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CCCAGCAGGCGTCCCCAATCT	0.483																																						ENST00000380419.3		NA																	0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						c.(52-54)gaC>gaT		tubulin, alpha-like 3		G	,	0,4406		0,0,2203	122.0	113.0	116.0		,54	-0.0	0.2	10	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	TUBAL3	NM_001171864.1,NM_024803.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,18/447	5443000	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5443000G>A	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.54C>T	10.37:g.5443000G>A		False	False		Somatic	0				TUBAL3_ENST00000479328.1_Intron	p.D18D	NM_024803.2	NP_079079.1	WXS	Illumina HiSeq	Phase_I	A6NHL2	TBAL3_HUMAN			2	91	-			18					B4DKL2|Q4QQJ5|Q9H6Z0	Silent	SNP	ENST00000380419.3	37	c.54C>T	CCDS7066.2																																																																																				0.483	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	0	NM_024803		10:5443000
DGKH	160851	broad.mit.edu	37	13	42761256	42761256	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr13:42761256C>T	ENST00000337343.4	+	14	1631	c.1610C>T	c.(1609-1611)gCc>gTc	p.A537V	DGKH_ENST00000261491.5_Missense_Mutation_p.A537V|DGKH_ENST00000379274.2_Missense_Mutation_p.A401V|DGKH_ENST00000540693.1_Missense_Mutation_p.A537V|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.A401V|DGKH_ENST00000538674.1_Missense_Mutation_p.A292V	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	537					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTGGAAAATGCCGTTGTAGCT	0.418																																						ENST00000261491.5		NA																	0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1609-1611)gCc>gTc		diacylglycerol kinase, eta							123.0	134.0	130.0					13																	42761256		2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42761256C>T	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1610C>T	13.37:g.42761256C>T	ENSP00000337572:p.Ala537Val	False	False		Somatic	0				DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.A537V|DGKH_ENST00000337343.4_Missense_Mutation_p.A537V|DGKH_ENST00000379274.2_Missense_Mutation_p.A401V|DGKH_ENST00000538674.1_Missense_Mutation_p.A292V|DGKH_ENST00000536612.1_Missense_Mutation_p.A401V	p.A537V	NM_152910.4	NP_690874.2	WXS	Illumina HiSeq	Phase_I	Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	14	1631	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	NA					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.1610C>T	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	C	8.110	0.778622	0.16120	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.80033	-1.33;-1.16;-1.33;-1.33;-1.33;1.91	5.81	4.93	0.64822	.	0.765669	0.12250	N	0.485721	T	0.76162	0.3949	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.20261	0.003;0.003;0.043;0.001	B;B;B;B	0.23852	0.008;0.006;0.049;0.004	T	0.65348	-0.6190	10	0.45353	T	0.12	.	18.5402	0.91024	0.0:0.8731:0.1269:0.0	.	292;401;537;537	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	V	537;537;537;401;401;292	ENSP00000440823:A537V;ENSP00000337572:A537V;ENSP00000261491:A537V;ENSP00000368576:A401V;ENSP00000445114:A401V;ENSP00000441308:A292V	ENSP00000261491:A537V	A	+	2	0	DGKH	41659256	0.017000	0.18338	0.007000	0.13788	0.053000	0.15095	2.639000	0.46570	2.746000	0.94184	0.655000	0.94253	GCC		0.418	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	0	NM_178009		13:42761256
SCN4A	6329	broad.mit.edu	37	17	62022892	62022892	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:62022892G>A	ENST00000435607.1	-	19	3624	c.3548C>T	c.(3547-3549)gCc>gTc	p.A1183V	SCN4A_ENST00000578147.1_Missense_Mutation_p.A1183V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1183					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A1183V(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAACTTGCCGGCAAACAGGTT	0.542																																						ENST00000435607.1		NA																	1	Substitution - Missense(1)	p.A1183V(1)	lung(1)	breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(3547-3549)gCc>gTc		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						250.0	250.0	250.0					17																	62022892		2201	4300	6501	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62022892G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3548C>T	17.37:g.62022892G>A	ENSP00000396320:p.Ala1183Val	False	False		Somatic	0				SCN4A_ENST00000578147.1_Missense_Mutation_p.A1183V	p.A1183V	NM_000334.4	NP_000325.4	WXS	Illumina HiSeq	Phase_I	P35499	SCN4A_HUMAN			19	3624	-			1183					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.3548C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018393	0.93404	.	.	ENSG00000007314	ENST00000435607	D	0.97529	-4.42	3.91	3.91	0.45181	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98735	0.9575	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.99474	1.0946	10	0.87932	D	0	.	15.4523	0.75282	0.0:0.0:1.0:0.0	.	1183	P35499	SCN4A_HUMAN	V	1183	ENSP00000396320:A1183V	ENSP00000396320:A1183V	A	-	2	0	SCN4A	59376624	1.000000	0.71417	0.990000	0.47175	0.939000	0.58152	9.522000	0.98032	2.196000	0.70406	0.561000	0.74099	GCC		0.542	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	NM_000334		17:62022892
SCFD2	152579	broad.mit.edu	37	4	53751931	53751931	+	Silent	SNP	A	A	G			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr4:53751931A>G	ENST00000401642.3	-	8	2078	c.1945T>C	c.(1945-1947)Ttg>Ctg	p.L649L	SCFD2_ENST00000388940.4_Silent_p.L604L	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	649					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCTGGCTTCAACGATGCCACA	0.547																																						ENST00000401642.3		NA																	0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1945-1947)Ttg>Ctg		sec1 family domain containing 2							115.0	105.0	108.0					4																	53751931		2203	4300	6503	SO:0001819	synonymous_variant	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:53751931A>G	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1945T>C	4.37:g.53751931A>G		False	False		Somatic	0				SCFD2_ENST00000388940.4_Silent_p.L604L	p.L649L	NM_152540.3	NP_689753.2	WXS	Illumina HiSeq	Phase_I	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		8	2078	-			649					Q8N5F3|Q8N8H0|Q96ED3	Silent	SNP	ENST00000401642.3	37	c.1945T>C	CCDS33984.1																																																																																				0.547	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	0	NM_152540		4:53751931
TP53	7157	broad.mit.edu	37	17	7578469	7578469	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:7578469C>A	ENST00000269305.4	-	5	650	c.461G>T	c.(460-462)gGc>gTc	p.G154V	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V|TP53_ENST00000445888.2_Missense_Mutation_p.G154V|TP53_ENST00000455263.2_Missense_Mutation_p.G154V|TP53_ENST00000420246.2_Missense_Mutation_p.G154V	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	154	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(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)	GACGCGGGTGCCGGGCGGGGG	0.607		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"""		98	Substitution - Missense(62)|Deletion - Frameshift(14)|Whole gene deletion(8)|Insertion - In frame(5)|Unknown(5)|Deletion - In frame(4)	p.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)	lung(34)|stomach(8)|oesophagus(8)|skin(7)|liver(6)|ovary(6)|bone(5)|upper_aerodigestive_tract(4)|large_intestine(4)|breast(4)|central_nervous_system(2)|urinary_tract(2)|prostate(2)|pancreas(2)|thyroid(1)|soft_tissue(1)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(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	CM951223	TP53	M		c.(460-462)gGc>gTc	Other conserved DNA damage response genes	tumor protein p53							50.0	51.0	51.0					17																	7578469		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.chr17:7578469C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.461G>T	17.37:g.7578469C>A	ENSP00000269305:p.Gly154Val	True	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_ENST00000269305.4_Missense_Mutation_p.G154V|TP53_ENST00000359597.4_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V|TP53_ENST00000455263.2_Missense_Mutation_p.G154V|TP53_ENST00000445888.2_Missense_Mutation_p.G154V	p.G154V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	593	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	154		G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (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.461G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456171	0.43634	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	5.59	3.61	0.41365	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.158634	0.56097	D	0.000036	D	0.99859	0.9934	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.997;0.991;0.998;0.999;0.998;1.0	D;D;P;D;D;D;D	0.79108	0.987;0.984;0.848;0.983;0.992;0.988;0.988	D	0.97051	0.9764	10	0.87932	D	0	-10.7989	10.689	0.45860	0.0:0.8432:0.0:0.1568	.	115;154;154;61;154;154;154	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	154;154;154;154;154;154;143;61;22;61;22;154	ENSP00000410739:G154V;ENSP00000352610:G154V;ENSP00000269305:G154V;ENSP00000398846:G154V;ENSP00000391127:G154V;ENSP00000391478:G154V;ENSP00000425104:G22V;ENSP00000423862:G61V;ENSP00000424104:G154V	ENSP00000269305:G154V	G	-	2	0	TP53	7519194	0.990000	0.36364	0.002000	0.10522	0.006000	0.05464	4.029000	0.57253	0.850000	0.35239	-0.140000	0.14226	GGC		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578469
