#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_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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
CYB5A	1528	broad.mit.edu	37	18	71930661	71930661	+	Missense_Mutation	SNP	C	C	G			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr18:71930661C>G	ENST00000340533.4	-	2	321	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	CYB5A_ENST00000494131.2_Missense_Mutation_p.E61Q|CYB5A_ENST00000397914.4_Missense_Mutation_p.E61Q|CYB5A_ENST00000299438.9_5'UTR|CYB5A_ENST00000579064.1_5'Flank	NM_148923.3	NP_683725.1	P00167	CYB5_HUMAN	cytochrome b5 type A (microsomal)	61	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				hydrogen ion transmembrane transport (GO:1902600)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	aldo-keto reductase (NADP) activity (GO:0004033)|cytochrome-c oxidase activity (GO:0004129)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(1)|lung(1)|skin(1)	4		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)				TCAAAGTTCTCAGTAGCGTCA	0.443																																					NSCLC(176;1530 2076 2606 27426 50572)|Ovarian(151;328 1870 2837 37860 52175)	uc002lli.3																			0				kidney(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(181-183)Gag>Cag		Homo sapiens cytochrome b5 type A (microsomal) (CYB5A), transcript variant 1, mRNA.	Methoxyflurane(DB01028)						122.0	112.0	115.0					18																	71930661		2203	4300	6503	SO:0001583	missense	1528				electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding	g.chr18:71930661C>G	M22865	CCDS12004.1, CCDS12005.1, CCDS54188.1	18q23	2006-01-30	2006-01-30	2006-01-30	ENSG00000166347	ENSG00000166347		"""Cytochrome b genes"""	2570	protein-coding gene	gene with protein product		613218	"""cytochrome b-5"", ""cytochrome b5 (microsomal)"""	CYB5		1840560	Standard	NM_148923		Approved		uc002lli.3	P00167	OTTHUMG00000132843	ENST00000340533.4:c.181G>C	18.37:g.71930661C>G	ENSP00000341625:p.Glu61Gln					CYB5A_uc021ull.1_Missense_Mutation_p.E61Q|CYB5A_uc002llh.3_Missense_Mutation_p.E61Q	p.E61Q	NM_148923	NP_683725	P00167	CYB5_HUMAN			1	322	-		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)	61			Cytochrome b5 heme-binding.		A8MV91|F8WEU4|Q6IB14	Missense_Mutation	SNP	ENST00000340533.4	37	c.181G>C	CCDS12004.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578675	0.86645	.	.	ENSG00000166347	ENST00000397914;ENST00000340533;ENST00000299438	T;T	0.81415	-1.49;-1.49	5.79	5.79	0.91817	Cytochrome b5 (5);	0.000000	0.85682	D	0.000000	D	0.91095	0.7197	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	0.99;1.0	D;D	0.91635	0.918;0.999	D	0.91751	0.5412	10	0.72032	D	0.01	-2.1308	18.8188	0.92088	0.0:1.0:0.0:0.0	.	61;61	P00167;P00167-2	CYB5_HUMAN;.	Q	61	ENSP00000381011:E61Q;ENSP00000341625:E61Q	ENSP00000299438:E61Q	E	-	1	0	CYB5A	70081641	1.000000	0.71417	0.559000	0.28332	0.804000	0.45430	7.070000	0.76763	2.722000	0.93159	0.655000	0.94253	GAG		0.443	CYB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256316.1	NM_001914, NM_148923		3	143	0	0	0	1	0	3	143				
AOX1	316	broad.mit.edu	37	2	201485429	201485429	+	Silent	SNP	G	G	C			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr2:201485429G>C	ENST00000374700.2	+	17	2002	c.1761G>C	c.(1759-1761)ctG>ctC	p.L587L	AOX1_ENST00000485106.1_Intron	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	587					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCATGCATCTGTCTGGTGTGA	0.443																																						uc002uvx.3																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(1759-1761)ctG>ctC		Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						114.0	98.0	103.0					2																	201485429		2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity	g.chr2:201485429G>C	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1761G>C	2.37:g.201485429G>C						AOX1_uc010zhf.2_Silent_p.L143L|AOX1_uc010fsu.3_Intron	p.L587L	NM_001159	NP_001150	Q06278	ADO_HUMAN			16	1862	+			587					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.1761G>C	CCDS33360.1																																																																																				0.443	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		4	97	0	0	0	1	0	4	97				
MEGF8	1954	broad.mit.edu	37	19	42848949	42848949	+	Silent	SNP	C	C	T			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr19:42848949C>T	ENST00000251268.6	+	12	2061	c.2061C>T	c.(2059-2061)acC>acT	p.T687T	MEGF8_ENST00000334370.4_Silent_p.T687T	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	687					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACTTGCTCACCTTTCAGCAGC	0.617																																						uc002otl.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2059-2061)acC>acT		Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.							71.0	70.0	71.0					19																	42848949		2203	4300	6503	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42848949C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2061C>T	19.37:g.42848949C>T						MEGF8_uc002otm.4_Silent_p.T228T	p.T687T	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			11	2696	+		Prostate(69;0.00682)	755					A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.2061C>T																																																																																					0.617	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		4	110	0	0	0	1	0	4	110				
ZNF432	9668	broad.mit.edu	37	19	52537330	52537330	+	Silent	SNP	A	A	G			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr19:52537330A>G	ENST00000594154.1	-	5	1814	c.1602T>C	c.(1600-1602)acT>acC	p.T534T	ZNF432_ENST00000221315.5_Silent_p.T534T			O94892	ZN432_HUMAN	zinc finger protein 432	534					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTCCAGTATGAGTTCGCTGGT	0.398																																						uc002pyk.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29						c.(1600-1602)acT>acC		Homo sapiens zinc finger protein 432 (ZNF432), mRNA.							105.0	97.0	100.0					19																	52537330		2203	4300	6503	SO:0001819	synonymous_variant	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52537330A>G	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1602T>C	19.37:g.52537330A>G							p.T534T	NM_014650	NP_055465	O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	4	1920	-		all_neural(266;0.117)	534						Silent	SNP	ENST00000594154.1	37	c.1602T>C	CCDS12848.1																																																																																				0.398	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		3	147	0	0	0	1	0	3	147				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	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						p.V600E	NM_004333	NP_004324	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		43	70	0	0	0	1	0	43	70				
ADNP	23394	broad.mit.edu	37	20	49508575	49508575	+	Silent	SNP	A	A	G	rs200301628		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr20:49508575A>G	ENST00000396029.3	-	5	3243	c.2676T>C	c.(2674-2676)ccT>ccC	p.P892P	ADNP_ENST00000371602.4_Silent_p.P892P|ADNP_ENST00000396032.3_Silent_p.P892P|ADNP_ENST00000349014.3_Silent_p.P892P	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	892					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CAGGGTCAAAAGGGCTACCAC	0.408																																						uc002xvt.1																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(2674-2676)ccT>ccC		Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.							141.0	143.0	142.0					20																	49508575		2203	4300	6503	SO:0001819	synonymous_variant	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49508575A>G	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2676T>C	20.37:g.49508575A>G						ADNP_uc002xvu.1_Silent_p.P892P	p.P892P	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN			4	3021	-			892					E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	37	c.2676T>C	CCDS13433.1																																																																																				0.408	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		3	196	0	0	0	1	0	3	196				
SEC23IP	11196	broad.mit.edu	37	10	121658138	121658138	+	Silent	SNP	T	T	C	rs1063732		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr10:121658138T>C	ENST00000369075.3	+	2	435	c.363T>C	c.(361-363)ccT>ccC	p.P121P	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	121	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CTGCTCTCCCTTTTACAACTG	0.473																																						uc001leu.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(361-363)ccT>ccC		Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.							166.0	141.0	149.0					10																	121658138		2203	4300	6503	SO:0001819	synonymous_variant	11196				Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding	g.chr10:121658138T>C	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.363T>C	10.37:g.121658138T>C						SEC23IP_uc010qtc.2_Intron	p.P121P	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	1	573	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	121			Interaction with SEC23A.		D3DRD2|Q8IXH5|Q9BUK5	Silent	SNP	ENST00000369075.3	37	c.363T>C	CCDS7618.1																																																																																				0.473	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			4	173	0	0	0	1	0	4	173				
PIWIL2	55124	broad.mit.edu	37	8	22138985	22138985	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr8:22138985G>A	ENST00000454009.2	+	4	891	c.382G>A	c.(382-384)Gct>Act	p.A128T	PIWIL2_ENST00000521356.1_Missense_Mutation_p.A128T|PIWIL2_ENST00000356766.6_Missense_Mutation_p.A128T	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	128					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGTGTTGGCGGCTGGGGACAG	0.488																																						uc003xbn.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(382-384)Gct>Act		Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.							100.0	105.0	103.0					8																	22138985		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22138985G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.382G>A	8.37:g.22138985G>A	ENSP00000406956:p.Ala128Thr					PIWIL2_uc011kzf.1_Missense_Mutation_p.A128T|PIWIL2_uc010ltv.2_Missense_Mutation_p.A128T	p.A128T	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	3	530	+			128					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.382G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979314	0.53827	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.05258	3.48;3.47;3.48	5.55	3.76	0.43208	.	0.266613	0.31709	N	0.007190	T	0.04679	0.0127	L	0.29908	0.895	0.30162	N	0.802054	B;B	0.24258	0.1;0.1	B;B	0.18561	0.022;0.022	T	0.28839	-1.0031	10	0.20519	T	0.43	.	8.2168	0.31516	0.0805:0.0:0.7637:0.1558	.	128;128	E7ECA4;Q8TC59	.;PIWL2_HUMAN	T	128	ENSP00000349208:A128T;ENSP00000428267:A128T;ENSP00000406956:A128T	ENSP00000349208:A128T	A	+	1	0	PIWIL2	22194930	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.688000	0.46984	0.718000	0.32166	0.561000	0.74099	GCT		0.488	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			4	130	0	0	0	1	0	4	130				
UNC5B	219699	broad.mit.edu	37	10	73055692	73055692	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr10:73055692G>A	ENST00000335350.6	+	14	2716	c.2300G>A	c.(2299-2301)aGg>aAg	p.R767K	UNC5B_ENST00000373192.4_Missense_Mutation_p.R756K	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	767	UPA domain. {ECO:0000250}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCCCATTGGAGGAGCAAGCTG	0.632																																						uc001jro.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(2299-2301)aGg>aAg		Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.							100.0	83.0	89.0					10																	73055692		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73055692G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2300G>A	10.37:g.73055692G>A	ENSP00000334329:p.Arg767Lys					UNC5B_uc001jrp.3_Missense_Mutation_p.R756K	p.R767K	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN			13	2751	+			767					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.2300G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243225	0.22796	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.45276	0.96;0.9	5.01	3.16	0.36331	.	0.051724	0.85682	N	0.000000	T	0.27559	0.0677	L	0.28274	0.84	0.52501	D	0.99995	B;B	0.33549	0.417;0.293	B;B	0.36719	0.231;0.116	T	0.02743	-1.1116	10	0.08599	T	0.76	-18.0092	10.734	0.46113	0.1542:0.0:0.8458:0.0	.	756;767	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	K	767;756	ENSP00000334329:R767K;ENSP00000362288:R756K	ENSP00000334329:R767K	R	+	2	0	UNC5B	72725698	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.053000	0.57427	0.520000	0.28426	0.579000	0.79373	AGG		0.632	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		3	111	0	0	0	1	0	3	111				
DNAH9	1770	broad.mit.edu	37	17	11872791	11872791	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr17:11872791G>A	ENST00000262442.4	+	69	13476	c.13408G>A	c.(13408-13410)Gaa>Aaa	p.E4470K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E4394K|DNAH9_ENST00000608377.1_Missense_Mutation_p.E782K|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4470					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAGACTAAGGAAAACCCATC	0.512																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(13408-13410)Gaa>Aaa		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							52.0	47.0	49.0					17																	11872791		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11872791G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13408G>A	17.37:g.11872791G>A	ENSP00000262442:p.Glu4470Lys					DNAH9_uc010coo.3_Missense_Mutation_p.E3688K|DNAH9_uc002gnf.3_Missense_Mutation_p.E782K	p.E4470K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	68	13476	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4470					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.13408G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492475	0.84962	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.08807	3.05;3.05;3.05	5.43	4.47	0.54385	Dynein heavy chain (1);	0.327716	0.35349	N	0.003276	T	0.20820	0.0501	L	0.42008	1.315	0.58432	D	0.999997	D	0.58620	0.983	D	0.66351	0.943	T	0.00967	-1.1497	10	0.44086	T	0.13	.	16.5588	0.84534	0.0:0.1304:0.8696:0.0	.	4470	Q9NYC9	DYH9_HUMAN	K	4470;4394;2976;782	ENSP00000262442:E4470K;ENSP00000414874:E4394K;ENSP00000379323:E782K	ENSP00000262442:E4470K	E	+	1	0	DNAH9	11813516	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	6.068000	0.71201	1.529000	0.49120	-0.127000	0.14921	GAA		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	44	0	0	0	1	0	4	44				
ITGAD	3681	broad.mit.edu	37	16	31425789	31425789	+	Missense_Mutation	SNP	G	G	A	rs139794241	byFrequency	TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr16:31425789G>A	ENST00000389202.2	+	17	2063	c.2014G>A	c.(2014-2016)Gtc>Atc	p.V672I		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	672					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAAAGCTCTGTCAGGTTTGA	0.443																																						uc010cap.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2017-2019)Gtc>Atc		Homo sapiens integrin, alpha D (ITGAD), mRNA.							156.0	168.0	164.0					16																	31425789		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31425789G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2014G>A	16.37:g.31425789G>A	ENSP00000373854:p.Val672Ile					ITGAD_uc002ebv.1_Missense_Mutation_p.V672I	p.V673I	NM_005353	NP_005344	Q13349	ITAD_HUMAN			16	2066	+			672					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2017G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	5.694	0.312574	0.10789	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.43294	0.95	4.7	0.387	0.16259	Integrin alpha-2 (1);	.	.	.	.	T	0.37839	0.1018	M	0.64997	1.995	0.21064	N	0.999792	B;B	0.13594	0.008;0.008	B;B	0.27076	0.076;0.076	T	0.37641	-0.9697	9	0.25751	T	0.34	.	7.2475	0.26129	0.3859:0.0:0.6141:0.0	.	688;672	Q59H14;Q13349	.;ITAD_HUMAN	I	688;672	ENSP00000373854:V672I	ENSP00000373854:V672I	V	+	1	0	ITGAD	31333290	0.001000	0.12720	0.193000	0.23327	0.220000	0.24768	0.031000	0.13710	-0.145000	0.11294	-0.357000	0.07601	GTC		0.443	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		6	273	0	0	0	1	0	6	273				
NOP16	51491	broad.mit.edu	37	5	175815258	175815258	+	Missense_Mutation	SNP	G	G	A	rs376625530		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr5:175815258G>A	ENST00000389158.5	-	2	629	c.194C>T	c.(193-195)gCg>gTg	p.A65V	NOP16_ENST00000507413.1_Intron|NOP16_ENST00000509257.1_Missense_Mutation_p.A65V|HIGD2A_ENST00000274787.2_5'Flank|NOP16_ENST00000510123.1_Missense_Mutation_p.A65V			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	65						intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						GAGGGGCACCGCCCTGTTGGG	0.587																																						uc003mee.3																			0				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(193-195)gCg>gTg		Homo sapiens NOP16 nucleolar protein homolog (yeast) (NOP16), mRNA.		G	VAL/ALA	0,4046		0,0,2023	66.0	73.0	71.0		194	4.3	1.0	5		71	1,8319		0,1,4159	no	missense	NOP16	NM_016391.4	64	0,1,6182	AA,AG,GG		0.012,0.0,0.0081	benign	65/179	175815258	1,12365	2023	4160	6183	SO:0001583	missense	51491					nucleolus		g.chr5:175815258G>A		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"""hypothetical protein HSPC111"", ""HBV pre-S2 trans-regulated protein 3"""	612861	"""nucleolar protein 16 homolog (yeast)"", ""NOP16 nucleolar protein homolog (yeast)"""			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.194C>T	5.37:g.175815258G>A	ENSP00000373810:p.Ala65Val					NOP16_uc003med.3_Missense_Mutation_p.A65V|NOP16_uc011dfl.2_Missense_Mutation_p.A65V|NOP16_uc011dfm.1_Missense_Mutation_p.A65V|HIGD2A_uc003meg.3_5'Flank	p.A65V			Q9Y3C1	NOP16_HUMAN			1	194	-			65					B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Missense_Mutation	SNP	ENST00000389158.5	37	c.194C>T	CCDS43403.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759365	0.69763	0.0	1.2E-4	ENSG00000048162	ENST00000389158;ENST00000510123;ENST00000451293;ENST00000509257	.	.	.	5.21	4.34	0.51931	.	.	.	.	.	T	0.58736	0.2143	M	0.68728	2.09	0.49483	D	0.999791	P;B;D;P	0.57571	0.634;0.068;0.98;0.916	B;B;P;B	0.47673	0.154;0.021;0.554;0.387	T	0.58014	-0.7711	8	0.15952	T	0.53	.	13.6261	0.62165	0.0739:0.0:0.926:0.0	.	65;65;65;65	B4E098;Q9Y3C1;Q6PIM0;D6RGD3	.;NOP16_HUMAN;.;.	V	65	.	ENSP00000373810:A65V	A	-	2	0	NOP16	175747864	1.000000	0.71417	0.992000	0.48379	0.362000	0.29581	4.299000	0.59073	1.437000	0.47472	0.561000	0.74099	GCG		0.587	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391		4	114	0	0	0	1	0	4	114				
FOCAD	54914	broad.mit.edu	37	9	20982426	20982426	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr9:20982426G>A	ENST00000380249.1	+	41	5073	c.4709G>A	c.(4708-4710)cGg>cAg	p.R1570Q	FOCAD_ENST00000605086.1_Missense_Mutation_p.R1006Q|FOCAD_ENST00000338382.6_Missense_Mutation_p.R1570Q	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1570						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GATGCCAATCGGATCGCCCAG	0.353																																						uc003zog.1																			0											c.(4708-4710)cGg>cAg		Homo sapiens KIAA1797 (KIAA1797), mRNA.							127.0	133.0	131.0					9																	20982426		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20982426G>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4709G>A	9.37:g.20982426G>A	ENSP00000369599:p.Arg1570Gln					FOCAD_uc003zoh.1_Missense_Mutation_p.R1006Q	p.R1570Q	NM_017794	NP_060264	Q5VW36	K1797_HUMAN			40	5072	+			1570					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.4709G>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.428263	0.25726	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.18960	2.18;2.18	5.83	3.8	0.43715	.	0.061048	0.64402	N	0.000004	T	0.16085	0.0387	L	0.43701	1.375	0.21499	N	0.999665	B	0.22541	0.071	B	0.17098	0.017	T	0.22417	-1.0217	10	0.22706	T	0.39	-28.0448	8.5708	0.33567	0.2557:0.0:0.7443:0.0	.	1570	Q5VW36	K1797_HUMAN	Q	1570	ENSP00000369599:R1570Q;ENSP00000344307:R1570Q	ENSP00000344307:R1570Q	R	+	2	0	KIAA1797	20972426	0.631000	0.27164	0.005000	0.12908	0.562000	0.35680	2.675000	0.46875	0.670000	0.31165	0.561000	0.74099	CGG		0.353	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		3	91	0	0	0	1	0	3	91				
CYB5A	1528	broad.mit.edu	37	18	71930661	71930661	+	Missense_Mutation	SNP	C	C	G			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr18:71930661C>G	ENST00000340533.4	-	2	321	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	CYB5A_ENST00000494131.2_Missense_Mutation_p.E61Q|CYB5A_ENST00000397914.4_Missense_Mutation_p.E61Q|CYB5A_ENST00000299438.9_5'UTR|CYB5A_ENST00000579064.1_5'Flank	NM_148923.3	NP_683725.1	P00167	CYB5_HUMAN	cytochrome b5 type A (microsomal)	61	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				hydrogen ion transmembrane transport (GO:1902600)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	aldo-keto reductase (NADP) activity (GO:0004033)|cytochrome-c oxidase activity (GO:0004129)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(1)|lung(1)|skin(1)	4		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)				TCAAAGTTCTCAGTAGCGTCA	0.443																																					NSCLC(176;1530 2076 2606 27426 50572)|Ovarian(151;328 1870 2837 37860 52175)	uc002lli.3																			0				kidney(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(181-183)Gag>Cag		Homo sapiens cytochrome b5 type A (microsomal) (CYB5A), transcript variant 1, mRNA.	Methoxyflurane(DB01028)						122.0	112.0	115.0					18																	71930661		2203	4300	6503	SO:0001583	missense	1528				electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding	g.chr18:71930661C>G	M22865	CCDS12004.1, CCDS12005.1, CCDS54188.1	18q23	2006-01-30	2006-01-30	2006-01-30	ENSG00000166347	ENSG00000166347		"""Cytochrome b genes"""	2570	protein-coding gene	gene with protein product		613218	"""cytochrome b-5"", ""cytochrome b5 (microsomal)"""	CYB5		1840560	Standard	NM_148923		Approved		uc002lli.3	P00167	OTTHUMG00000132843	ENST00000340533.4:c.181G>C	18.37:g.71930661C>G	ENSP00000341625:p.Glu61Gln					CYB5A_uc021ull.1_Missense_Mutation_p.E61Q|CYB5A_uc002llh.3_Missense_Mutation_p.E61Q	p.E61Q	NM_148923	NP_683725	P00167	CYB5_HUMAN			1	322	-		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)	61			Cytochrome b5 heme-binding.		A8MV91|F8WEU4|Q6IB14	Missense_Mutation	SNP	ENST00000340533.4	37	c.181G>C	CCDS12004.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578675	0.86645	.	.	ENSG00000166347	ENST00000397914;ENST00000340533;ENST00000299438	T;T	0.81415	-1.49;-1.49	5.79	5.79	0.91817	Cytochrome b5 (5);	0.000000	0.85682	D	0.000000	D	0.91095	0.7197	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	0.99;1.0	D;D	0.91635	0.918;0.999	D	0.91751	0.5412	10	0.72032	D	0.01	-2.1308	18.8188	0.92088	0.0:1.0:0.0:0.0	.	61;61	P00167;P00167-2	CYB5_HUMAN;.	Q	61	ENSP00000381011:E61Q;ENSP00000341625:E61Q	ENSP00000299438:E61Q	E	-	1	0	CYB5A	70081641	1.000000	0.71417	0.559000	0.28332	0.804000	0.45430	7.070000	0.76763	2.722000	0.93159	0.655000	0.94253	GAG		0.443	CYB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256316.1	NM_001914, NM_148923		3	143	0	0	0	1	0	3	143				
AOX1	316	broad.mit.edu	37	2	201485429	201485429	+	Silent	SNP	G	G	C			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr2:201485429G>C	ENST00000374700.2	+	17	2002	c.1761G>C	c.(1759-1761)ctG>ctC	p.L587L	AOX1_ENST00000485106.1_Intron	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	587					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCATGCATCTGTCTGGTGTGA	0.443																																						uc002uvx.3																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(1759-1761)ctG>ctC		Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						114.0	98.0	103.0					2																	201485429		2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity	g.chr2:201485429G>C	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1761G>C	2.37:g.201485429G>C						AOX1_uc010zhf.2_Silent_p.L143L|AOX1_uc010fsu.3_Intron	p.L587L	NM_001159	NP_001150	Q06278	ADO_HUMAN			16	1862	+			587					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.1761G>C	CCDS33360.1																																																																																				0.443	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		4	97	0	0	0	1	0	4	97				
MEGF8	1954	broad.mit.edu	37	19	42848949	42848949	+	Silent	SNP	C	C	T			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr19:42848949C>T	ENST00000251268.6	+	12	2061	c.2061C>T	c.(2059-2061)acC>acT	p.T687T	MEGF8_ENST00000334370.4_Silent_p.T687T	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	687					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACTTGCTCACCTTTCAGCAGC	0.617																																						uc002otl.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2059-2061)acC>acT		Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.							71.0	70.0	71.0					19																	42848949		2203	4300	6503	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42848949C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2061C>T	19.37:g.42848949C>T						MEGF8_uc002otm.4_Silent_p.T228T	p.T687T	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			11	2696	+		Prostate(69;0.00682)	755					A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.2061C>T																																																																																					0.617	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		4	110	0	0	0	1	0	4	110				
ZNF432	9668	broad.mit.edu	37	19	52537330	52537330	+	Silent	SNP	A	A	G			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr19:52537330A>G	ENST00000594154.1	-	5	1814	c.1602T>C	c.(1600-1602)acT>acC	p.T534T	ZNF432_ENST00000221315.5_Silent_p.T534T			O94892	ZN432_HUMAN	zinc finger protein 432	534					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTCCAGTATGAGTTCGCTGGT	0.398																																						uc002pyk.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29						c.(1600-1602)acT>acC		Homo sapiens zinc finger protein 432 (ZNF432), mRNA.							105.0	97.0	100.0					19																	52537330		2203	4300	6503	SO:0001819	synonymous_variant	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52537330A>G	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1602T>C	19.37:g.52537330A>G							p.T534T	NM_014650	NP_055465	O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	4	1920	-		all_neural(266;0.117)	534						Silent	SNP	ENST00000594154.1	37	c.1602T>C	CCDS12848.1																																																																																				0.398	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		3	147	0	0	0	1	0	3	147				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	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						p.V600E	NM_004333	NP_004324	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		43	70	0	0	0	1	0	43	70				
ADNP	23394	broad.mit.edu	37	20	49508575	49508575	+	Silent	SNP	A	A	G	rs200301628		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr20:49508575A>G	ENST00000396029.3	-	5	3243	c.2676T>C	c.(2674-2676)ccT>ccC	p.P892P	ADNP_ENST00000371602.4_Silent_p.P892P|ADNP_ENST00000396032.3_Silent_p.P892P|ADNP_ENST00000349014.3_Silent_p.P892P	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	892					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CAGGGTCAAAAGGGCTACCAC	0.408																																						uc002xvt.1																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(2674-2676)ccT>ccC		Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.							141.0	143.0	142.0					20																	49508575		2203	4300	6503	SO:0001819	synonymous_variant	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49508575A>G	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2676T>C	20.37:g.49508575A>G						ADNP_uc002xvu.1_Silent_p.P892P	p.P892P	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN			4	3021	-			892					E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	37	c.2676T>C	CCDS13433.1																																																																																				0.408	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		3	196	0	0	0	1	0	3	196				
SEC23IP	11196	broad.mit.edu	37	10	121658138	121658138	+	Silent	SNP	T	T	C	rs1063732		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr10:121658138T>C	ENST00000369075.3	+	2	435	c.363T>C	c.(361-363)ccT>ccC	p.P121P	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	121	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CTGCTCTCCCTTTTACAACTG	0.473																																						uc001leu.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(361-363)ccT>ccC		Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.							166.0	141.0	149.0					10																	121658138		2203	4300	6503	SO:0001819	synonymous_variant	11196				Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding	g.chr10:121658138T>C	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.363T>C	10.37:g.121658138T>C						SEC23IP_uc010qtc.2_Intron	p.P121P	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	1	573	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	121			Interaction with SEC23A.		D3DRD2|Q8IXH5|Q9BUK5	Silent	SNP	ENST00000369075.3	37	c.363T>C	CCDS7618.1																																																																																				0.473	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			4	173	0	0	0	1	0	4	173				
PIWIL2	55124	broad.mit.edu	37	8	22138985	22138985	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr8:22138985G>A	ENST00000454009.2	+	4	891	c.382G>A	c.(382-384)Gct>Act	p.A128T	PIWIL2_ENST00000521356.1_Missense_Mutation_p.A128T|PIWIL2_ENST00000356766.6_Missense_Mutation_p.A128T	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	128					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGTGTTGGCGGCTGGGGACAG	0.488																																						uc003xbn.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(382-384)Gct>Act		Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.							100.0	105.0	103.0					8																	22138985		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22138985G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.382G>A	8.37:g.22138985G>A	ENSP00000406956:p.Ala128Thr					PIWIL2_uc011kzf.1_Missense_Mutation_p.A128T|PIWIL2_uc010ltv.2_Missense_Mutation_p.A128T	p.A128T	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	3	530	+			128					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.382G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979314	0.53827	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.05258	3.48;3.47;3.48	5.55	3.76	0.43208	.	0.266613	0.31709	N	0.007190	T	0.04679	0.0127	L	0.29908	0.895	0.30162	N	0.802054	B;B	0.24258	0.1;0.1	B;B	0.18561	0.022;0.022	T	0.28839	-1.0031	10	0.20519	T	0.43	.	8.2168	0.31516	0.0805:0.0:0.7637:0.1558	.	128;128	E7ECA4;Q8TC59	.;PIWL2_HUMAN	T	128	ENSP00000349208:A128T;ENSP00000428267:A128T;ENSP00000406956:A128T	ENSP00000349208:A128T	A	+	1	0	PIWIL2	22194930	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.688000	0.46984	0.718000	0.32166	0.561000	0.74099	GCT		0.488	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			4	130	0	0	0	1	0	4	130				
UNC5B	219699	broad.mit.edu	37	10	73055692	73055692	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr10:73055692G>A	ENST00000335350.6	+	14	2716	c.2300G>A	c.(2299-2301)aGg>aAg	p.R767K	UNC5B_ENST00000373192.4_Missense_Mutation_p.R756K	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	767	UPA domain. {ECO:0000250}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCCCATTGGAGGAGCAAGCTG	0.632																																						uc001jro.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(2299-2301)aGg>aAg		Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.							100.0	83.0	89.0					10																	73055692		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73055692G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2300G>A	10.37:g.73055692G>A	ENSP00000334329:p.Arg767Lys					UNC5B_uc001jrp.3_Missense_Mutation_p.R756K	p.R767K	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN			13	2751	+			767					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.2300G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243225	0.22796	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.45276	0.96;0.9	5.01	3.16	0.36331	.	0.051724	0.85682	N	0.000000	T	0.27559	0.0677	L	0.28274	0.84	0.52501	D	0.99995	B;B	0.33549	0.417;0.293	B;B	0.36719	0.231;0.116	T	0.02743	-1.1116	10	0.08599	T	0.76	-18.0092	10.734	0.46113	0.1542:0.0:0.8458:0.0	.	756;767	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	K	767;756	ENSP00000334329:R767K;ENSP00000362288:R756K	ENSP00000334329:R767K	R	+	2	0	UNC5B	72725698	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.053000	0.57427	0.520000	0.28426	0.579000	0.79373	AGG		0.632	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		3	111	0	0	0	1	0	3	111				
DNAH9	1770	broad.mit.edu	37	17	11872791	11872791	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr17:11872791G>A	ENST00000262442.4	+	69	13476	c.13408G>A	c.(13408-13410)Gaa>Aaa	p.E4470K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E4394K|DNAH9_ENST00000608377.1_Missense_Mutation_p.E782K|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4470					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAGACTAAGGAAAACCCATC	0.512																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(13408-13410)Gaa>Aaa		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							52.0	47.0	49.0					17																	11872791		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11872791G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13408G>A	17.37:g.11872791G>A	ENSP00000262442:p.Glu4470Lys					DNAH9_uc010coo.3_Missense_Mutation_p.E3688K|DNAH9_uc002gnf.3_Missense_Mutation_p.E782K	p.E4470K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	68	13476	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4470					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.13408G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492475	0.84962	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.08807	3.05;3.05;3.05	5.43	4.47	0.54385	Dynein heavy chain (1);	0.327716	0.35349	N	0.003276	T	0.20820	0.0501	L	0.42008	1.315	0.58432	D	0.999997	D	0.58620	0.983	D	0.66351	0.943	T	0.00967	-1.1497	10	0.44086	T	0.13	.	16.5588	0.84534	0.0:0.1304:0.8696:0.0	.	4470	Q9NYC9	DYH9_HUMAN	K	4470;4394;2976;782	ENSP00000262442:E4470K;ENSP00000414874:E4394K;ENSP00000379323:E782K	ENSP00000262442:E4470K	E	+	1	0	DNAH9	11813516	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	6.068000	0.71201	1.529000	0.49120	-0.127000	0.14921	GAA		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	44	0	0	0	1	0	4	44				
ITGAD	3681	broad.mit.edu	37	16	31425789	31425789	+	Missense_Mutation	SNP	G	G	A	rs139794241	byFrequency	TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr16:31425789G>A	ENST00000389202.2	+	17	2063	c.2014G>A	c.(2014-2016)Gtc>Atc	p.V672I		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	672					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAAAGCTCTGTCAGGTTTGA	0.443																																						uc010cap.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2017-2019)Gtc>Atc		Homo sapiens integrin, alpha D (ITGAD), mRNA.							156.0	168.0	164.0					16																	31425789		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31425789G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2014G>A	16.37:g.31425789G>A	ENSP00000373854:p.Val672Ile					ITGAD_uc002ebv.1_Missense_Mutation_p.V672I	p.V673I	NM_005353	NP_005344	Q13349	ITAD_HUMAN			16	2066	+			672					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2017G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	5.694	0.312574	0.10789	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.43294	0.95	4.7	0.387	0.16259	Integrin alpha-2 (1);	.	.	.	.	T	0.37839	0.1018	M	0.64997	1.995	0.21064	N	0.999792	B;B	0.13594	0.008;0.008	B;B	0.27076	0.076;0.076	T	0.37641	-0.9697	9	0.25751	T	0.34	.	7.2475	0.26129	0.3859:0.0:0.6141:0.0	.	688;672	Q59H14;Q13349	.;ITAD_HUMAN	I	688;672	ENSP00000373854:V672I	ENSP00000373854:V672I	V	+	1	0	ITGAD	31333290	0.001000	0.12720	0.193000	0.23327	0.220000	0.24768	0.031000	0.13710	-0.145000	0.11294	-0.357000	0.07601	GTC		0.443	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		6	273	0	0	0	1	0	6	273				
NOP16	51491	broad.mit.edu	37	5	175815258	175815258	+	Missense_Mutation	SNP	G	G	A	rs376625530		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr5:175815258G>A	ENST00000389158.5	-	2	629	c.194C>T	c.(193-195)gCg>gTg	p.A65V	NOP16_ENST00000507413.1_Intron|NOP16_ENST00000509257.1_Missense_Mutation_p.A65V|HIGD2A_ENST00000274787.2_5'Flank|NOP16_ENST00000510123.1_Missense_Mutation_p.A65V			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	65						intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						GAGGGGCACCGCCCTGTTGGG	0.587																																						uc003mee.3																			0				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(193-195)gCg>gTg		Homo sapiens NOP16 nucleolar protein homolog (yeast) (NOP16), mRNA.		G	VAL/ALA	0,4046		0,0,2023	66.0	73.0	71.0		194	4.3	1.0	5		71	1,8319		0,1,4159	no	missense	NOP16	NM_016391.4	64	0,1,6182	AA,AG,GG		0.012,0.0,0.0081	benign	65/179	175815258	1,12365	2023	4160	6183	SO:0001583	missense	51491					nucleolus		g.chr5:175815258G>A		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"""hypothetical protein HSPC111"", ""HBV pre-S2 trans-regulated protein 3"""	612861	"""nucleolar protein 16 homolog (yeast)"", ""NOP16 nucleolar protein homolog (yeast)"""			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.194C>T	5.37:g.175815258G>A	ENSP00000373810:p.Ala65Val					NOP16_uc003med.3_Missense_Mutation_p.A65V|NOP16_uc011dfl.2_Missense_Mutation_p.A65V|NOP16_uc011dfm.1_Missense_Mutation_p.A65V|HIGD2A_uc003meg.3_5'Flank	p.A65V			Q9Y3C1	NOP16_HUMAN			1	194	-			65					B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Missense_Mutation	SNP	ENST00000389158.5	37	c.194C>T	CCDS43403.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759365	0.69763	0.0	1.2E-4	ENSG00000048162	ENST00000389158;ENST00000510123;ENST00000451293;ENST00000509257	.	.	.	5.21	4.34	0.51931	.	.	.	.	.	T	0.58736	0.2143	M	0.68728	2.09	0.49483	D	0.999791	P;B;D;P	0.57571	0.634;0.068;0.98;0.916	B;B;P;B	0.47673	0.154;0.021;0.554;0.387	T	0.58014	-0.7711	8	0.15952	T	0.53	.	13.6261	0.62165	0.0739:0.0:0.926:0.0	.	65;65;65;65	B4E098;Q9Y3C1;Q6PIM0;D6RGD3	.;NOP16_HUMAN;.;.	V	65	.	ENSP00000373810:A65V	A	-	2	0	NOP16	175747864	1.000000	0.71417	0.992000	0.48379	0.362000	0.29581	4.299000	0.59073	1.437000	0.47472	0.561000	0.74099	GCG		0.587	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391		4	114	0	0	0	1	0	4	114				
FOCAD	54914	broad.mit.edu	37	9	20982426	20982426	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr9:20982426G>A	ENST00000380249.1	+	41	5073	c.4709G>A	c.(4708-4710)cGg>cAg	p.R1570Q	FOCAD_ENST00000605086.1_Missense_Mutation_p.R1006Q|FOCAD_ENST00000338382.6_Missense_Mutation_p.R1570Q	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1570						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GATGCCAATCGGATCGCCCAG	0.353																																						uc003zog.1																			0											c.(4708-4710)cGg>cAg		Homo sapiens KIAA1797 (KIAA1797), mRNA.							127.0	133.0	131.0					9																	20982426		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20982426G>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4709G>A	9.37:g.20982426G>A	ENSP00000369599:p.Arg1570Gln					FOCAD_uc003zoh.1_Missense_Mutation_p.R1006Q	p.R1570Q	NM_017794	NP_060264	Q5VW36	K1797_HUMAN			40	5072	+			1570					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.4709G>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.428263	0.25726	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.18960	2.18;2.18	5.83	3.8	0.43715	.	0.061048	0.64402	N	0.000004	T	0.16085	0.0387	L	0.43701	1.375	0.21499	N	0.999665	B	0.22541	0.071	B	0.17098	0.017	T	0.22417	-1.0217	10	0.22706	T	0.39	-28.0448	8.5708	0.33567	0.2557:0.0:0.7443:0.0	.	1570	Q5VW36	K1797_HUMAN	Q	1570	ENSP00000369599:R1570Q;ENSP00000344307:R1570Q	ENSP00000344307:R1570Q	R	+	2	0	KIAA1797	20972426	0.631000	0.27164	0.005000	0.12908	0.562000	0.35680	2.675000	0.46875	0.670000	0.31165	0.561000	0.74099	CGG		0.353	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		3	91	0	0	0	1	0	3	91				
