#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NEGR1	257194	broad.mit.edu	37	1	72241872	72241872	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr1:72241872C>T	ENST00000357731.5	-	3	757	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	NEGR1_ENST00000434200.1_Missense_Mutation_p.R171Q|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Missense_Mutation_p.R45Q	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	173	Ig-like C2-type 2.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GGAGATGTGTCGCCAAGAAAT	0.418																																						ENST00000357731.5																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(517-519)cGa>cAa		neuronal growth regulator 1							115.0	100.0	105.0					1																	72241872		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72241872C>T	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.518G>A	1.37:g.72241872C>T	ENSP00000350364:p.Arg173Gln					NEGR1_ENST00000306821.3_Missense_Mutation_p.R45Q|NEGR1_ENST00000434200.1_Missense_Mutation_p.R171Q|NEGR1_ENST00000467479.1_5'UTR	p.R173Q	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	3	757	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)				Ig-like C2-type 2.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.518G>A	CCDS661.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.629032	0.87560	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.29917	1.55;1.55;1.55	5.97	5.97	0.96955	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	M	0.65677	2.01	0.54753	D	0.999988	D;D	0.61080	0.987;0.989	P;P	0.62491	0.903;0.832	T	0.17167	-1.0378	10	0.45353	T	0.12	-12.0593	19.2102	0.93751	0.0:1.0:0.0:0.0	.	171;173	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	Q	173;45;171	ENSP00000350364:R173Q;ENSP00000305938:R45Q;ENSP00000413294:R171Q	ENSP00000305938:R45Q	R	-	2	0	NEGR1	72014460	1.000000	0.71417	0.999000	0.59377	0.656000	0.38851	4.315000	0.59172	2.836000	0.97738	0.655000	0.94253	CGA		0.418	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		3	38	3	38	---	---	---	---
GNAT2	2780	broad.mit.edu	37	1	110146052	110146052	+	Missense_Mutation	SNP	T	T	A			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr1:110146052T>A	ENST00000351050.3	-	8	1175	c.989A>T	c.(988-990)cAg>cTg	p.Q330L		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	330					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTTGACATTCTGTGTATCTGT	0.403																																						ENST00000351050.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(988-990)cAg>cTg		guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2							116.0	107.0	110.0					1																	110146052		2203	4300	6503	SO:0001583	missense	2780				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity	g.chr1:110146052T>A	BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.989A>T	1.37:g.110146052T>A	ENSP00000251337:p.Gln330Leu						p.Q330L	NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)	8	1175	-		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	330						Missense_Mutation	SNP	ENST00000351050.3	37	c.989A>T	CCDS803.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.715197	0.68844	.	.	ENSG00000134183	ENST00000351050	D	0.89123	-2.47	5.48	5.48	0.80851	.	0.107611	0.64402	D	0.000005	D	0.87981	0.6315	M	0.82517	2.595	0.47245	D	0.99936	B	0.32893	0.389	B	0.37015	0.239	D	0.89260	0.3597	10	0.59425	D	0.04	.	15.5478	0.76123	0.0:0.0:0.0:1.0	.	330	P19087	GNAT2_HUMAN	L	330	ENSP00000251337:Q330L	ENSP00000251337:Q330L	Q	-	2	0	GNAT2	109947575	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.162000	0.71874	2.205000	0.71048	0.533000	0.62120	CAG		0.403	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032181.1	NM_005272		4	61	4	61	---	---	---	---
NBPF15	284565	broad.mit.edu	37	1	148594407	148594407	+	Missense_Mutation	SNP	G	G	A	rs144416833	byFrequency	TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr1:148594407G>A	ENST00000369187.3	+	19	2269	c.1780G>A	c.(1780-1782)Gtg>Atg	p.V594M	NBPF15_ENST00000442702.2_Missense_Mutation_p.V594M	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	594	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					GCTCTACGGCGTGCTGATGGA	0.458													.|||	6	0.00119808	0.0008	0.0	5008	,	,		18795	0.001		0.0	False		,,,				2504	0.0041					ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1780-1782)Gtg>Atg		neuroblastoma breakpoint family, member 15		A	MET/VAL,MET/VAL	4,4330		0,4,2163	129.0	160.0	150.0		1780,1780	0.5	0.0	1	dbSNP_134	150	1,8599		0,1,4299	no	missense,missense	NBPF15	NM_001170755.1,NM_173638.3	21,21	0,5,6462	AA,AG,GG		0.0116,0.0923,0.0387	benign,benign	594/671,594/671	148594407	5,12929	2167	4300	6467	SO:0001583	missense	284565					cytoplasm		g.chr1:148594407G>A	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1780G>A	1.37:g.148594407G>A	ENSP00000358188:p.Val594Met					NBPF15_ENST00000369187.3_Missense_Mutation_p.V594M	p.V594M	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2847	+	all_hematologic(923;0.032)		594			NBPF 6.		Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	c.1780G>A	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	3.083	-0.188652	0.06299	9.23E-4	1.16E-4	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.06849	3.25;3.25	0.502	0.502	0.16932	DUF1220 (2);	.	.	.	.	T	0.02455	0.0075	L	0.44542	1.39	0.09310	N	1	B	0.26081	0.141	B	0.24155	0.051	T	0.42361	-0.9456	8	0.49607	T	0.09	.	.	.	.	.	594	Q8N660	NBPFF_HUMAN	M	594	ENSP00000416864:V594M;ENSP00000358188:V594M	ENSP00000358188:V594M	V	+	1	0	NBPF15	146861031	0.018000	0.18449	0.002000	0.10522	0.003000	0.03518	-2.111000	0.01333	0.557000	0.29117	0.377000	0.23210	GTG		0.458	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		13	286	13	286	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82833276	82833276	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr5:82833276C>T	ENST00000265077.3	+	8	5019	c.4454C>T	c.(4453-4455)aCt>aTt	p.T1485I	VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T498I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1485	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAGCCTGAGACTTACCCTGAA	0.423																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(4453-4455)aCt>aTt		versican							80.0	77.0	78.0					5																	82833276		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82833276C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4454C>T	5.37:g.82833276C>T	ENSP00000265077:p.Thr1485Ile					VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T498I|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron	p.T1485I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	5019	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1485			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.4454C>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	3.749	-0.051910	0.07362	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.84660	-1.87;-1.88;3.26	6.17	0.0481	0.14283	.	0.615410	0.16106	N	0.229329	T	0.70535	0.3235	N	0.13327	0.33	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.13407	0.009;0.004	T	0.56890	-0.7904	10	0.31617	T	0.26	.	10.7956	0.46459	0.0:0.6147:0.0:0.3853	.	498;1485	P13611-2;P13611	.;CSPG2_HUMAN	I	1485;498;498	ENSP00000265077:T1485I;ENSP00000340062:T498I;ENSP00000426251:T498I	ENSP00000265077:T1485I	T	+	2	0	VCAN	82869032	0.001000	0.12720	0.034000	0.17996	0.858000	0.48976	-0.172000	0.09868	0.134000	0.18681	-0.136000	0.14681	ACT		0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		4	68	4	68	---	---	---	---
FAM65B	9750	broad.mit.edu	37	6	24848254	24848254	+	Splice_Site	SNP	A	A	C			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr6:24848254A>C	ENST00000259698.4	-	12	1251	c.1076T>G	c.(1075-1077)tTt>tGt	p.F359C	FAM65B_ENST00000538035.1_Splice_Site_p.F388C|FAM65B_ENST00000378023.4_Splice_Site_p.F359C|FAM65B_ENST00000540914.1_Splice_Site_p.F359C|FAM65B_ENST00000510784.2_Splice_Site_p.F393C	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	359					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TGAACTTACAAAGAAGGAGTG	0.507																																						ENST00000259698.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(1075-1077)tTt>tGt		family with sequence similarity 65, member B							103.0	98.0	100.0					6																	24848254		1910	4136	6046	SO:0001630	splice_region_variant	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24848254A>C	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1077+1T>G	6.37:g.24848254A>C						FAM65B_ENST00000510784.2_Splice_Site_p.F393C|FAM65B_ENST00000540914.1_Splice_Site_p.F359C|FAM65B_ENST00000538035.1_Splice_Site_p.F388C|FAM65B_ENST00000378023.4_Splice_Site_p.F359C	p.F359C	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN			12	1251	-			359					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Splice_Site	SNP	ENST00000259698.4	37	c.1076T>G	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.479524	0.84747	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.02050	4.48;4.48;4.48;4.48;4.48	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.06234	0.0161	L	0.60455	1.87	0.44492	D	0.997438	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.16482	-1.0401	10	0.66056	D	0.02	-20.0132	15.5798	0.76425	1.0:0.0:0.0:0.0	.	393;388;359;359	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	C	359;388;359;359;393	ENSP00000259698:F359C;ENSP00000441138:F388C;ENSP00000367262:F359C;ENSP00000438425:F359C;ENSP00000441305:F393C	ENSP00000259698:F359C	F	-	2	0	FAM65B	24956233	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	8.957000	0.93082	2.064000	0.61679	0.460000	0.39030	TTT		0.507	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2		Missense_Mutation	16	44	16	44	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140453145	140453145	+	Missense_Mutation	SNP	A	A	C	rs121913366|rs121913368		TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr7:140453145A>C	ENST00000288602.6	-	15	1850	c.1790T>G	c.(1789-1791)cTa>cGa	p.L597R		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	597	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> R (in LNCR; also found in an ovarian serous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12460919, ECO:0000269|PubMed:17344846}.|L -> V (in NS7; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:19206169}.		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.L597R(14)|p.L597S(9)|p.L597Q(8)	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)	CACTGTAGCTAGACCAAAATC	0.383		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)	ENST00000288602.6		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)	31	Substitution - Missense(31)	p.L597R(14)|p.L597S(9)|p.L597Q(8)	skin(18)|lung(4)|ovary(4)|large_intestine(3)|NS(1)|prostate(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.(1789-1791)cTa>cGa		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						109.0	102.0	105.0					7																	140453145		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.chr7:140453145A>C	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.1790T>G	7.37:g.140453145A>C	ENSP00000288602:p.Leu597Arg						p.L597R	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1850	-	Melanoma(164;0.00956)		597		L -> R (in LNCR; also found in an ovarian serous carcinoma sample; somatic mutation).|L -> V (in NS7; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1790T>G	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.0|26.0	4.691286|4.691286	0.88735|0.88735	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.91351|.	-2.83|.	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|.	D|.	0.88388|.	0.6423|.	H|H	0.97707|0.97707	4.06|4.06	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.92473|.	0.5987|.	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	.|.	597|.	P15056|.	BRAF_HUMAN|.	R|E	597|205	ENSP00000288602:L597R|.	ENSP00000288602:L597R|.	L|X	-|-	2|1	0|0	BRAF|BRAF	140099614|140099614	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	CTA|TAG		0.383	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		5	92	5	92	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104934014	104934014	+	Splice_Site	SNP	T	T	A			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr8:104934014T>A	ENST00000436393.2	+	8	1771		c.e8+2		RIMS2_ENST00000507740.1_Splice_Site|RIMS2_ENST00000262231.10_Splice_Site|RIMS2_ENST00000406091.3_Splice_Site			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAACTTTCAGTATGTAGTCAT	0.338										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.e8+2		regulating synaptic membrane exocytosis 2							129.0	115.0	119.0					8																	104934014		1848	4087	5935	SO:0001630	splice_region_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104934014T>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1530+2T>A	8.37:g.104934014T>A		HNSCC(12;0.0054)				RIMS2_ENST00000436393.2_Splice_Site|RIMS2_ENST00000262231.10_Splice_Site|RIMS2_ENST00000406091.3_Splice_Site		NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		8	1856	+								B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Splice_Site	SNP	ENST00000436393.2	37			.	.	.	.	.	.	.	.	.	.	T	26.4	4.732678	0.89482	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2291	0.82321	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIMS2	105003190	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.966000	0.87956	2.238000	0.73509	0.528000	0.53228	.		0.338	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	Intron	7	47	7	47	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26465766	26465766	+	Missense_Mutation	SNP	G	G	T	rs200243391		TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr10:26465766G>T	ENST00000265944.5	+	31	4596	c.4430G>T	c.(4429-4431)tGc>tTc	p.C1477F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1477					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCTCAGCAGTGCCTCTCAGGT	0.373																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4429-4431)tGc>tTc		myosin IIIA							77.0	73.0	74.0					10																	26465766		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26465766G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4430G>T	10.37:g.26465766G>T	ENSP00000265944:p.Cys1477Phe					MYO3A_ENST00000543632.1_Intron	p.C1477F	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			31	4596	+			1477					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4430G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	6.775	0.511928	0.12944	.	.	ENSG00000095777	ENST00000265944	T	0.77098	-1.07	5.8	-3.33	0.04958	.	0.985154	0.08348	N	0.959691	T	0.63082	0.2481	L	0.32530	0.975	0.21579	N	0.999632	B	0.02656	0.0	B	0.01281	0.0	T	0.41840	-0.9486	10	0.26408	T	0.33	.	8.357	0.32335	0.5806:0.114:0.3055:0.0	.	1477	Q8NEV4	MYO3A_HUMAN	F	1477	ENSP00000265944:C1477F	ENSP00000265944:C1477F	C	+	2	0	MYO3A	26505772	0.007000	0.16637	0.021000	0.16686	0.899000	0.52679	0.190000	0.17057	-1.088000	0.03077	-0.806000	0.03193	TGC		0.373	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		4	58	4	58	---	---	---	---
PDHX	8050	broad.mit.edu	37	11	34991708	34991708	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr11:34991708C>T	ENST00000227868.4	+	7	923	c.839C>T	c.(838-840)gCc>gTc	p.A280V	PDHX_ENST00000448838.3_Missense_Mutation_p.A265V|PDHX_ENST00000430469.2_Intron			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	280					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			GAAATCCCCGCCAGCAATATT	0.383																																						ENST00000448838.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16						c.(793-795)gCc>gTc		pyruvate dehydrogenase complex, component X							78.0	72.0	74.0					11																	34991708		2202	4298	6500	SO:0001583	missense	8050				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity	g.chr11:34991708C>T	U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.839C>T	11.37:g.34991708C>T	ENSP00000227868:p.Ala280Val					PDHX_ENST00000227868.4_Missense_Mutation_p.A280V|PDHX_ENST00000430469.2_Intron	p.A265V	NM_001135024.1|NM_003477.2	NP_001128496.1|NP_003468.2	O00330	ODPX_HUMAN	STAD - Stomach adenocarcinoma(6;0.00113)		7	1036	+	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	280					B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000227868.4	37	c.794C>T	CCDS7896.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806757	0.50421	.	.	ENSG00000110435	ENST00000448838;ENST00000227868	T;T	0.38560	1.13;1.13	5.75	5.75	0.90469	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.046297	0.85682	D	0.000000	T	0.29945	0.0749	N	0.16016	0.355	0.80722	D	1	P;B	0.38677	0.642;0.392	B;B	0.42112	0.376;0.173	T	0.06127	-1.0844	10	0.02654	T	1	-11.8635	18.5201	0.90948	0.0:1.0:0.0:0.0	.	265;280	E9PB14;O00330	.;ODPX_HUMAN	V	265;280	ENSP00000389404:A265V;ENSP00000227868:A280V	ENSP00000227868:A280V	A	+	2	0	PDHX	34948284	1.000000	0.71417	0.993000	0.49108	0.742000	0.42306	6.893000	0.75649	2.700000	0.92200	0.563000	0.77884	GCC		0.383	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		12	44	12	44	---	---	---	---
OR4Q3	441669	broad.mit.edu	37	14	20216043	20216043	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr14:20216043G>A	ENST00000331723.1	+	1	457	c.457G>A	c.(457-459)Ggt>Agt	p.G153S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGTGTGGGGGTTTTATCCA	0.498																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(457-459)Ggt>Agt		olfactory receptor, family 4, subfamily Q, member 3							91.0	93.0	92.0					14																	20216043		2203	4297	6500	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216043G>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.457G>A	14.37:g.20216043G>A	ENSP00000330049:p.Gly153Ser						p.G153S	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	457	+	all_cancers(95;0.00108)		153					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.457G>A	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718645	0.48622	.	.	ENSG00000182652	ENST00000331723	T	0.32988	1.43	4.09	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.174103	0.26935	U	0.021742	T	0.44201	0.1282	M	0.68593	2.085	0.09310	N	1	P	0.52577	0.954	P	0.56612	0.802	T	0.29027	-1.0025	10	0.62326	D	0.03	.	9.1301	0.36839	0.0:0.0:0.782:0.218	.	153	Q8NH05	OR4Q3_HUMAN	S	153	ENSP00000330049:G153S	ENSP00000330049:G153S	G	+	1	0	OR4Q3	19285883	0.645000	0.27286	0.981000	0.43875	0.729000	0.41735	3.089000	0.50183	2.105000	0.64084	0.406000	0.27484	GGT		0.498	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			10	39	10	39	---	---	---	---
BAHD1	22893	broad.mit.edu	37	15	40750961	40750961	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr15:40750961C>T	ENST00000416165.1	+	2	369	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	BAHD1_ENST00000561234.1_Missense_Mutation_p.P100S|BAHD1_ENST00000560846.1_Missense_Mutation_p.P100S	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	100					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCCCAAGCCCCCCAGCCCGGC	0.657																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(298-300)Ccc>Tcc		bromo adjacent homology domain containing 1							28.0	33.0	31.0					15																	40750961		2203	4300	6503	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40750961C>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.298C>T	15.37:g.40750961C>T	ENSP00000396976:p.Pro100Ser					BAHD1_ENST00000560846.1_Missense_Mutation_p.P100S|BAHD1_ENST00000416165.1_Missense_Mutation_p.P100S	p.P100S			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	557	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	100					Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.298C>T	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	9.008	0.981695	0.18812	.	.	ENSG00000140320	ENST00000416165	T	0.16597	2.33	5.29	5.29	0.74685	.	0.241346	0.35739	N	0.003004	T	0.07683	0.0193	N	0.03608	-0.345	0.34157	D	0.668216	P;P;P	0.47910	0.902;0.842;0.902	B;B;B	0.44133	0.442;0.257;0.442	T	0.09574	-1.0668	10	0.02654	T	1	-16.4431	12.6279	0.56640	0.0:0.7836:0.2164:0.0	.	100;100;100	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	S	100	ENSP00000396976:P100S	ENSP00000396976:P100S	P	+	1	0	BAHD1	38538253	0.860000	0.29831	1.000000	0.80357	0.736000	0.42039	2.406000	0.44557	2.746000	0.94184	0.650000	0.86243	CCC		0.657	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		9	73	9	73	---	---	---	---
SLC30A4	7782	broad.mit.edu	37	15	45777429	45777429	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr15:45777429T>C	ENST00000261867.4	-	8	1536	c.1222A>G	c.(1222-1224)Att>Gtt	p.I408V	RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	408					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TGAAGCTGAATAGTACATCTA	0.378																																						ENST00000261867.4																			0				endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15						c.(1222-1224)Att>Gtt		solute carrier family 30 (zinc transporter), member 4							128.0	112.0	117.0					15																	45777429		2198	4298	6496	SO:0001583	missense	7782				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity	g.chr15:45777429T>C		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"""Solute carriers"""	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.1222A>G	15.37:g.45777429T>C	ENSP00000261867:p.Ile408Val					RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	p.I408V	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)	8	1536	-		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	408					Q8TC39	Missense_Mutation	SNP	ENST00000261867.4	37	c.1222A>G	CCDS10125.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618856	0.28801	.	.	ENSG00000104154	ENST00000261867	T	0.63913	-0.07	6.17	3.81	0.43845	.	0.226096	0.46758	N	0.000279	T	0.40398	0.1115	N	0.17564	0.495	0.36824	D	0.886556	B	0.02656	0.0	B	0.09377	0.004	T	0.31251	-0.9950	10	0.24483	T	0.36	-16.3643	6.8498	0.24008	0.0:0.2459:0.0:0.7541	.	408	O14863	ZNT4_HUMAN	V	408	ENSP00000261867:I408V	ENSP00000261867:I408V	I	-	1	0	SLC30A4	43564721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.336000	0.43938	1.111000	0.41721	0.533000	0.62120	ATT		0.378	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			3	34	3	34	---	---	---	---
ESF1	51575	broad.mit.edu	37	20	13695683	13695683	+	Silent	SNP	T	T	C			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr20:13695683T>C	ENST00000202816.1	-	14	2501	c.2394A>G	c.(2392-2394)gaA>gaG	p.E798E		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	798	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GTTCTTTCCGTTCTCTTTGCC	0.398																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(2392-2394)gaA>gaG		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							198.0	186.0	190.0					20																	13695683		2203	4300	6503	SO:0001819	synonymous_variant	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13695683T>C		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2394A>G	20.37:g.13695683T>C							p.E798E	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			14	2501	-			798			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Silent	SNP	ENST00000202816.1	37	c.2394A>G	CCDS13117.1																																																																																				0.398	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		29	121	29	121	---	---	---	---
TUBB8	347688	broad.mit.edu	37	10	93834	93835	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr10:93834_93835delTG	ENST00000309812.4	-	4	559_560	c.497_498delCA	c.(496-498)acafs	p.T166fs	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000447903.2_Frame_Shift_Del_p.T94fs|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	166					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GGATGCTGAATGTGTTTATGAT	0.584																																					Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(280-282)acafs		tubulin, beta 8 class VIII																																				SO:0001589	frameshift_variant	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93834_93835delTG	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.497_498delCA	10.37:g.93836_93837delTG	ENSP00000311042:p.Thr166fs					TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Frame_Shift_Del_p.T166fs|TUBB8_ENST00000332708.5_3'UTR	p.T94fs			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	596_597	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	166					Q5SQX9|Q8WZ78	Frame_Shift_Del	DEL	ENST00000309812.4	37	c.281_282delCA	CCDS7051.1																																																																																				0.584	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		8	199	8	199	---	---	---	---
