#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_MUTSIG_Published_Results	i_Mutation_Status	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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SCAF8	22828	broad.mit.edu	37	6	155145452	155145452	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr6:155145452A>G	ENST00000367178.3	+	17	2587	c.2011A>G	c.(2011-2013)Agt>Ggt	p.S671G	SCAF8_ENST00000417268.1_Missense_Mutation_p.S671G|RNU6-824P_ENST00000363724.1_RNA|SCAF8_ENST00000367186.4_Missense_Mutation_p.S737G	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	671	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TCCTGGATTCAGTCCAATCCC	0.443																																						uc011efj.2																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(2209-2211)Agt>Ggt		Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA.							190.0	187.0	188.0					6																	155145452		2203	4300	6503	SO:0001583	missense	22828				RNA splicing|mRNA processing	nuclear matrix|spliceosomal complex	RNA binding|RNA polymerase core enzyme binding|nucleotide binding	g.chr6:155145452A>G	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2011A>G	6.37:g.155145452A>G	ENSP00000356146:p.Ser671Gly		Somatic				SCAF8_uc011efk.2_Missense_Mutation_p.S716G|SCAF8_uc003qqa.3_Missense_Mutation_p.S671G|SCAF8_uc003qpz.3_Missense_Mutation_p.S671G|SCAF8_uc010kji.3_Missense_Mutation_p.S692G	p.S737G	NM_014892	NP_055707	WXS	Illumina GAIIx	Phase_I	Q9UPN6	SCAF8_HUMAN			18	2254	+			671			Pro-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.2209A>G	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.472317	0.43942	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.42513	0.99;0.99;0.97	5.27	4.09	0.47781	.	0.320592	0.29676	U	0.011495	T	0.08935	0.0221	N	0.11560	0.145	0.28442	N	0.916767	B;B;P;B	0.42692	0.0;0.055;0.787;0.028	B;B;B;B	0.40534	0.002;0.031;0.332;0.017	T	0.05273	-1.0895	10	0.19147	T	0.46	.	6.5515	0.22436	0.7892:0.0:0.0748:0.1361	.	716;737;749;671	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	G	671;671;737	ENSP00000356146:S671G;ENSP00000413098:S671G;ENSP00000356154:S737G	ENSP00000356146:S671G	S	+	1	0	SCAF8	155187144	1.000000	0.71417	0.992000	0.48379	0.845000	0.48019	3.127000	0.50484	1.986000	0.57962	0.528000	0.53228	AGT		0.443	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		67	88	0	0	0	1	0	67	88				
BRIX1	55299	broad.mit.edu	37	5	34923115	34923115	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr5:34923115G>A	ENST00000336767.5	+	7	883	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	174	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						GGCTTTTGATGAATTACCACA	0.279																																						uc003jja.3																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(520-522)Gaa>Aaa		Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA.							127.0	139.0	135.0					5																	34923115		2199	4298	6497	SO:0001583	missense	55299				ribosome biogenesis|translation	nucleolus	ATP binding|aminoacyl-tRNA ligase activity|protein binding	g.chr5:34923115G>A		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"""brix domain containing 2"""	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.520G>A	5.37:g.34923115G>A	ENSP00000338862:p.Glu174Lys		Somatic				BRIX1_uc011col.1_3'UTR	p.E174K	NM_018321	NP_060791	WXS	Illumina GAIIx	Phase_I	Q8TDN6	BRX1_HUMAN			6	544	+			174			Brix.		A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	ENST00000336767.5	37	c.520G>A	CCDS34143.1	.	.	.	.	.	.	.	.	.	.	G	8.513	0.867052	0.17250	.	.	ENSG00000113460	ENST00000336767	T	0.22336	1.96	5.65	4.75	0.60458	Brix domain (3);Anticodon-binding (1);	0.536759	0.21346	N	0.076059	T	0.08714	0.0216	N	0.04132	-0.27	0.29276	N	0.870379	B	0.02656	0.0	B	0.06405	0.002	T	0.17561	-1.0365	10	0.08179	T	0.78	-23.3206	11.2312	0.48914	0.0:0.2344:0.6401:0.1255	.	174	Q8TDN6	BRX1_HUMAN	K	174	ENSP00000338862:E174K	ENSP00000338862:E174K	E	+	1	0	BRIX1	34958872	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	1.559000	0.36320	2.941000	0.99782	0.655000	0.94253	GAA		0.279	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321		44	85	0	0	0	1	0	44	85				
PEG3	5178	broad.mit.edu	37	19	57328594	57328594	+	Missense_Mutation	SNP	C	C	T	rs553693488		TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr19:57328594C>T	ENST00000326441.9	-	10	1579	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D406N|PEG3_ENST00000593695.1_Missense_Mutation_p.D280N|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D282N|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	406					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTTTTTGATCGTGAATCGAG	0.488																																						uc002qnu.2																			0		p.H405H(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1216-1218)Gat>Aat		Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.							127.0	130.0	129.0					19																	57328594		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328594C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1216G>A	19.37:g.57328594C>T	ENSP00000326581:p.Asp406Asn		Somatic				PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.D377N|PEG3_uc002qnv.2_Missense_Mutation_p.D406N|PEG3_uc002qnw.2_Missense_Mutation_p.D282N|PEG3_uc002qnx.2_Missense_Mutation_p.D280N|PEG3_uc010etr.2_Missense_Mutation_p.D406N	p.D406N	NM_001146186	NP_001139657	WXS	Illumina GAIIx	Phase_I	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	6	1567	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	406					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1216G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	6.959	0.546785	0.13312	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02552	4.25;4.25	4.25	0.732	0.18283	.	0.594235	0.15182	N	0.276026	T	0.01730	0.0055	N	0.14661	0.345	.	.	.	B;B;B	0.18610	0.013;0.013;0.029	B;B;B	0.11329	0.003;0.003;0.006	T	0.34875	-0.9811	9	0.56958	D	0.05	-15.526	3.3059	0.07000	0.1657:0.4176:0.3231:0.0936	.	282;406;341	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	N	406;406;376	ENSP00000326581:D406N;ENSP00000403051:D406N	ENSP00000292074:D376N	D	-	1	0	ZIM2	62020406	0.000000	0.05858	0.002000	0.10522	0.195000	0.23768	-0.197000	0.09518	0.276000	0.22118	0.591000	0.81541	GAT		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			8	140	0	0	0	1	0	8	140				
CHGB	1114	broad.mit.edu	37	20	5903597	5903597	+	Silent	SNP	T	T	C			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr20:5903597T>C	ENST00000378961.4	+	4	1011	c.807T>C	c.(805-807)gaT>gaC	p.D269D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	269						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GTGAGGAAGATGCCACCTCTG	0.612																																						uc002wmg.3																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(805-807)gaT>gaC		Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.							43.0	47.0	45.0					20																	5903597		2201	4299	6500	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5903597T>C		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.807T>C	20.37:g.5903597T>C			Somatic				CHGB_uc010zqz.2_5'UTR	p.D269D	NM_001819	NP_001810	WXS	Illumina GAIIx	Phase_I	P05060	SCG1_HUMAN			3	1113	+			269					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.807T>C	CCDS13092.1																																																																																				0.612	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		8	18	0	0	0	1	0	8	18				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		38	46	0	0	0	1	0	38	46				
TMEM127	55654	broad.mit.edu	37	2	96933105	96933105	+	5'Flank	SNP	C	C	T			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr2:96933105C>T	ENST00000258439.3	-	0	0				TMEM127_ENST00000432959.1_5'Flank|CIAO1_ENST00000469320.1_3'UTR|CIAO1_ENST00000488633.1_Silent_p.R62R	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127						negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GCCACCAGCGCACCGTGCGGA	0.577																																						uc002svs.3																			0				endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						c.(184-186)cgC>cgT		Homo sapiens cytosolic iron-sulfur protein assembly 1 (CIAO1), mRNA.							124.0	119.0	121.0					2																	96933105		2203	4300	6503	SO:0001631	upstream_gene_variant	9391				chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding	g.chr2:96933105C>T	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454		2.37:g.96933105C>T	Exception_encountered		Somatic				TMEM127_uc002svq.3_5'Flank|TMEM127_uc002svr.3_5'Flank	p.R62R	NM_004804	NP_004795	WXS	Illumina GAIIx	Phase_I	O76071	CIAO1_HUMAN			1	391	+			62					D3DXH0	Silent	SNP	ENST00000258439.3	37	c.186C>T	CCDS2018.1																																																																																				0.577	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		58	112	0	0	0	1	0	58	112				
TMEM100	55273	broad.mit.edu	37	17	53798052	53798052	+	Missense_Mutation	SNP	G	G	T			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr17:53798052G>T	ENST00000575734.1	-	4	1188	c.380C>A	c.(379-381)gCa>gAa	p.A127E	TMEM100_ENST00000424486.2_Missense_Mutation_p.A127E|TMEM100_ENST00000570586.1_5'Flank	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	127					angiogenesis (GO:0001525)|arterial endothelial cell differentiation (GO:0060842)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of vasculogenesis (GO:2001214)|protein kinase B signaling (GO:0043491)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						TCTCTGATTTGCCACGAGAGC	0.483																																						uc002iuj.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						c.(379-381)gCa>gAa		Homo sapiens transmembrane protein 100 (TMEM100), transcript variant 2, mRNA.							108.0	104.0	106.0					17																	53798052		2203	4300	6503	SO:0001583	missense	55273					integral to membrane		g.chr17:53798052G>T	AK001832	CCDS11587.1	17q23.1	2005-12-16				ENSG00000166292			25607	protein-coding gene	gene with protein product							Standard	NM_018286		Approved	FLJ10970, FLJ37856	uc002iuj.4	Q9NV29		ENST00000575734.1:c.380C>A	17.37:g.53798052G>T	ENSP00000465638:p.Ala127Glu		Somatic				TMEM100_uc002iuk.4_Missense_Mutation_p.A127E|TMEM100_uc021uai.1_Missense_Mutation_p.A127E	p.A127E	NM_018286	NP_060756	WXS	Illumina GAIIx	Phase_I	Q9NV29	TM100_HUMAN			1	691	-			127					D3DTY7|I3L214|Q96FZ0	Missense_Mutation	SNP	ENST00000575734.1	37	c.380C>A	CCDS11587.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579653	0.46006	.	.	ENSG00000166292	ENST00000299377;ENST00000424486	.	.	.	5.53	-3.73	0.04398	.	0.447215	0.26688	N	0.023005	T	0.34221	0.0890	L	0.42245	1.32	0.28618	N	0.908332	P	0.46512	0.879	P	0.45829	0.494	T	0.43180	-0.9407	9	0.42905	T	0.14	-13.6276	11.8928	0.52638	0.5538:0.0:0.4462:0.0	.	127	Q9NV29	TM100_HUMAN	E	127	.	ENSP00000299377:A127E	A	-	2	0	TMEM100	51153051	0.582000	0.26749	0.036000	0.18154	0.689000	0.40095	0.891000	0.28309	-0.412000	0.07519	0.655000	0.94253	GCA		0.483	TMEM100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439266.2	NM_018286		20	101	0	0	0	1	0	20	101				
CHN1	1123	broad.mit.edu	37	2	175673728	175673728	+	Missense_Mutation	SNP	A	A	G	rs371299944		TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr2:175673728A>G	ENST00000409900.3	-	11	1320	c.1007T>C	c.(1006-1008)aTc>aCc	p.I336T	CHN1_ENST00000409597.1_Missense_Mutation_p.I152T|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409156.3_Missense_Mutation_p.I310T|CHN1_ENST00000295497.7_Missense_Mutation_p.I211T	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	336	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			GATAATGTTGATATCTTCATA	0.348			T	TAF15	extraskeletal myxoid chondrosarcoma																																	uc002uji.3				Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1006-1008)aTc>aCc		Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA.		A	THR/ILE,THR/ILE,THR/ILE	0,3754		0,0,1877	188.0	182.0	184.0		929,632,1007	4.8	1.0	2		184	1,8219		0,1,4109	no	missense,missense,missense	CHN1	NM_001025201.3,NM_001206602.1,NM_001822.5	89,89,89	0,1,5986	GG,GA,AA		0.0122,0.0,0.0084	possibly-damaging,possibly-damaging,possibly-damaging	310/434,211/335,336/460	175673728	1,11973	1877	4110	5987	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding	g.chr2:175673728A>G		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.1007T>C	2.37:g.175673728A>G	ENSP00000386741:p.Ile336Thr		Somatic				CHN1_uc010zeq.2_Missense_Mutation_p.I310T|CHN1_uc002ujj.3_Missense_Mutation_p.I111T|CHN1_uc002ujg.3_Missense_Mutation_p.I211T	p.I336T	NM_001822	NP_001813	WXS	Illumina GAIIx	Phase_I	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		10	1348	-			336			Rho-GAP.		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.1007T>C	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295101	0.81025	0.0	1.22E-4	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156;ENST00000409089;ENST00000444394;ENST00000413882;ENST00000443238	T;T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66	4.85	4.85	0.62838	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.045900	0.85682	D	0.000000	T	0.34048	0.0884	M	0.84326	2.69	0.80722	D	1	P;P;P	0.46578	0.734;0.734;0.88	P;P;P	0.54312	0.628;0.748;0.591	T	0.19582	-1.0301	10	0.66056	D	0.02	.	13.8996	0.63794	1.0:0.0:0.0:0.0	.	310;336;211	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	T	336;211;152;310;128;111;154;162	ENSP00000386741:I336T;ENSP00000295497:I211T;ENSP00000386469:I152T;ENSP00000386470:I310T;ENSP00000386322:I128T;ENSP00000411911:I111T;ENSP00000410496:I154T;ENSP00000409798:I162T	ENSP00000295497:I211T	I	-	2	0	CHN1	175381974	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.287000	0.95975	1.942000	0.56320	0.374000	0.22700	ATC		0.348	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		21	117	0	0	0	1	0	21	117				
ZBBX	79740	broad.mit.edu	37	3	167051707	167051707	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr3:167051707C>T	ENST00000392766.2	-	10	935	c.595G>A	c.(595-597)Gat>Aat	p.D199N	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.D199N|ZBBX_ENST00000392764.1_Missense_Mutation_p.D170N|ZBBX_ENST00000392767.2_Missense_Mutation_p.D199N|ZBBX_ENST00000307529.5_Missense_Mutation_p.D199N	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	199						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGGGTTCATCTGGATTAACA	0.338																																						uc011bpc.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(595-597)Gat>Aat		Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.							127.0	113.0	118.0					3																	167051707		1804	4072	5876	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167051707C>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.595G>A	3.37:g.167051707C>T	ENSP00000376519:p.Asp199Asn		Somatic				ZBBX_uc003feq.3_Missense_Mutation_p.D170N|ZBBX_uc003fep.3_Missense_Mutation_p.D199N	p.D199N	NM_001199201	NP_001186130	WXS	Illumina GAIIx	Phase_I	A8MT70	ZBBX_HUMAN			9	932	-			199					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.595G>A	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	11.60	1.685647	0.29962	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.11277	2.96;2.96;2.96;2.96;2.79	4.66	3.77	0.43336	.	.	.	.	.	T	0.13500	0.0327	L	0.47716	1.5	0.23076	N	0.998331	P;P	0.44429	0.835;0.745	P;B	0.44477	0.451;0.247	T	0.08889	-1.0700	9	0.39692	T	0.17	-2.2164	10.9347	0.47239	0.0:0.793:0.207:0.0	.	199;199	A8MT70-2;A8MT70	.;ZBBX_HUMAN	N	199;199;199;199;170	ENSP00000376519:D199N;ENSP00000376520:D199N;ENSP00000390232:D199N;ENSP00000305065:D199N;ENSP00000376517:D170N	ENSP00000305065:D199N	D	-	1	0	ZBBX	168534401	0.997000	0.39634	0.973000	0.42090	0.187000	0.23431	1.131000	0.31406	1.040000	0.40099	0.650000	0.86243	GAT		0.338	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		26	31	0	0	0	1	0	26	31				
KCNK18	338567	broad.mit.edu	37	10	118960781	118960781	+	Missense_Mutation	SNP	C	C	T	rs199813258		TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr10:118960781C>T	ENST00000334549.1	+	2	335	c.335C>T	c.(334-336)aCg>aTg	p.T112M		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	112					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTCTGCTGCACGGTGTTCAGC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		19208	0.001		0.0	False		,,,				2504	0.0					uc010qsr.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(334-336)aCg>aTg		Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.							133.0	105.0	115.0					10																	118960781		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118960781C>T	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.335C>T	10.37:g.118960781C>T	ENSP00000334650:p.Thr112Met		Somatic					p.T112M	NM_181840	NP_862823	WXS	Illumina GAIIx	Phase_I	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	1	335	+		Colorectal(252;0.19)	112					Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.335C>T	CCDS7598.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.08	3.543225	0.65198	.	.	ENSG00000186795	ENST00000334549	T	0.34072	1.38	4.27	4.27	0.50696	Ion transport 2 (1);	0.051872	0.85682	D	0.000000	T	0.61464	0.2349	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.63597	0.916	T	0.68511	-0.5389	10	0.72032	D	0.01	.	16.9723	0.86303	0.0:1.0:0.0:0.0	.	112	Q7Z418	KCNKI_HUMAN	M	112	ENSP00000334650:T112M	ENSP00000334650:T112M	T	+	2	0	KCNK18	118950771	1.000000	0.71417	0.954000	0.39281	0.918000	0.54935	5.866000	0.69590	2.656000	0.90262	0.655000	0.94253	ACG		0.562	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		31	61	0	0	0	1	0	31	61				
CARD10	29775	broad.mit.edu	37	22	37900249	37900250	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr22:37900249_37900250delGG	ENST00000403299.1	-	10	1793_1794	c.1577_1578delCC	c.(1576-1578)cccfs	p.P526fs	CARD10_ENST00000406271.3_Frame_Shift_Del_p.P240fs|CARD10_ENST00000251973.5_Frame_Shift_Del_p.P526fs			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	526					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGCCGGCACTGGGGGGGAAGGG	0.644																																						uc003asx.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1576-1578)cccfs		Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.																																				SO:0001589	frameshift_variant	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37900249_37900250delGG	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1577_1578delCC	22.37:g.37900253_37900254delGG	ENSP00000384570:p.Pro526fs		Somatic				CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_Frame_Shift_Del_p.P240fs|CARD10_uc003asy.1_Frame_Shift_Del_p.P526fs	p.P526fs	NM_014550	NP_055365	WXS	Illumina GAIIx	Phase_I	Q9BWT7	CAR10_HUMAN			8	1594_1595	-	Melanoma(58;0.0574)		526					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Frame_Shift_Del	DEL	ENST00000403299.1	37	c.1577_1578delCC	CCDS13948.1																																																																																				0.644	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		2	4						2	4	---	---	---	---
