#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
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	1	0	0.000602214	1	0.000620191	4	58				
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	C	T	rs77504727		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.chr6:32725567C>T	ENST00000437316.2	-	4	803	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.R247H|HLA-DQB2_ENST00000411527.1_Intron			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	251					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(739-741)cGt>cAt		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725567C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.740G>A	6.37:g.32725567C>T	ENSP00000396330:p.Arg247His					HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H	p.R247H			Q5SR06	Q5SR06_HUMAN			4	801	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.740G>A		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.431383	0.00184	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00625	6.17;6.14	3.25	-3.63	0.04529	.	0.752796	0.12134	N	0.496536	T	0.00210	0.0006	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.25502	-1.0130	9	0.41790	T	0.15	.	9.6955	0.40154	0.0:0.4123:0.0:0.5877	rs34134876	247	A2ADX3	.	H	247	ENSP00000396330:R247H;ENSP00000410512:R247H	ENSP00000410512:R247H	R	-	2	0	HLA-DQB2	32833545	0.000000	0.05858	0.008000	0.14137	0.015000	0.08874	-1.557000	0.02166	-0.833000	0.04245	-1.855000	0.00564	CGT		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			5	30	0	0	0	1	0	5	30				
C2orf16	84226	broad.mit.edu	37	2	27804618	27804618	+	Missense_Mutation	SNP	C	C	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.chr2:27804618C>A	ENST00000408964.2	+	1	5230	c.5179C>A	c.(5179-5181)Cgc>Agc	p.R1727S	ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1727	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGGAGCCATCGCAGTCCCTC	0.562																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5179-5181)Cgc>Agc		chromosome 2 open reading frame 16							174.0	180.0	178.0					2																	27804618		1937	4136	6073	SO:0001583	missense	84226							g.chr2:27804618C>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5179C>A	2.37:g.27804618C>A	ENSP00000386190:p.Arg1727Ser						p.R1727S	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5230	+	Acute lymphoblastic leukemia(172;0.155)		1727			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5179C>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924234	0.34002	.	.	ENSG00000221843	ENST00000408964	T	0.04862	3.54	3.95	3.95	0.45737	.	.	.	.	.	T	0.07052	0.0179	L	0.39898	1.24	0.09310	N	1	P	0.37573	0.6	B	0.34991	0.193	T	0.28138	-1.0053	9	0.33141	T	0.24	.	14.296	0.66314	0.0:1.0:0.0:0.0	.	1727	Q68DN1	CB016_HUMAN	S	1727	ENSP00000386190:R1727S	ENSP00000386190:R1727S	R	+	1	0	C2orf16	27658122	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-0.313000	0.08103	2.491000	0.84063	0.462000	0.41574	CGC		0.562	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		9	276	1	0	1.12685e-05	1	1.1962e-05	9	276				
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	0	0	0	1	0	10	39				
LRRC37A6P	387646	broad.mit.edu	37	10	27535600	27535600	+	lincRNA	SNP	T	T	C	rs640284	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.chr10:27535600T>C	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CACAGGTCAATTGCACATGGG	0.517													T|||	1007	0.201078	0.0197	0.2104	5008	,	,		22090	0.3274		0.2435	False		,,,				2504	0.2658					ENST00000574842.1																			0																																																			0							g.chr10:27535600T>C																													10.37:g.27535600T>C														0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.517	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			5	144	0	0	0	1	0	5	144				
HIRIP3	8479	broad.mit.edu	37	16	30002225	30002225	+	IGR	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.chr16:30002225G>A	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Missense_Mutation_p.E856K	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GAGCCAGCACGAGAGGGAGCT	0.662																																						ENST00000279394.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2566-2568)Gag>Aag		TAO kinase 2							40.0	45.0	43.0					16																	30002225		2197	4300	6497	SO:0001628	intergenic_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:30002225G>A	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002225G>A							p.E856K	NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN			18	2969	+			737			Glu-rich.		H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.2566G>A	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812959	0.70912	.	.	ENSG00000149930	ENST00000279394	T	0.55052	0.54	5.38	5.38	0.77491	.	.	.	.	.	T	0.57621	0.2066	L	0.55213	1.73	0.80722	D	1	D	0.58970	0.984	P	0.48770	0.589	T	0.57130	-0.7864	8	.	.	.	.	17.9064	0.88919	0.0:0.0:1.0:0.0	.	856	Q9UL54-2	.	K	856	ENSP00000279394:E856K	.	E	+	1	0	TAOK2	29909726	1.000000	0.71417	0.993000	0.49108	0.621000	0.37620	9.869000	0.99810	2.523000	0.85059	0.557000	0.71058	GAG		0.662	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		6	96	0	0	0	1	0	6	96				
PLEKHS1	79949	broad.mit.edu	37	10	115540411	115540411	+	Silent	SNP	T	T	C	rs11196483	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.chr10:115540411T>C	ENST00000354462.3	+	6	626	c.468T>C	c.(466-468)gcT>gcC	p.A156A	PLEKHS1_ENST00000369312.4_Silent_p.A324A|PLEKHS1_ENST00000369309.1_Silent_p.A240A|PLEKHS1_ENST00000361048.1_3'UTR			Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	420																	CATTCCATGCTGCATCCTGTA	0.418													T|||	1782	0.355831	0.2625	0.2968	5008	,	,		21245	0.4187		0.3926	False		,,,				2504	0.4213					ENST00000354462.3																			0											c.(466-468)gcT>gcC		pleckstrin homology domain containing, family S member 1		T	,,	1260,3146	432.4+/-343.3	194,872,1137	88.0	82.0	84.0		972,972,	-1.5	0.0	10	dbSNP_120	84	3395,5205	501.5+/-375.5	696,2003,1601	no	coding-synonymous,coding-synonymous,utr-3	C10orf81	NM_001193434.1,NM_001193435.1,NM_024889.4	,,	890,2875,2738	CC,CT,TT		39.4767,28.5974,35.7912	,,	324/367,324/367,	115540411	4655,8351	2203	4300	6503	SO:0001819	synonymous_variant	79949							g.chr10:115540411T>C	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000354462.3:c.468T>C	10.37:g.115540411T>C						PLEKHS1_ENST00000369312.4_Silent_p.A324A|PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369309.1_Silent_p.A240A	p.A156A							6	626	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Silent	SNP	ENST00000354462.3	37	c.468T>C																																																																																					0.418	PLEKHS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050431.2	NM_024889		4	41	0	0	0	1	0	4	41				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		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.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	47	1	0	3.59834e-05	1	3.7619e-05	5	47				
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_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_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	0	0	0	1	0	3	34				
CDK11A	728642	broad.mit.edu	37	1	1654058	1654058	+	Intron	SNP	C	C	T	rs61777495	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.chr1:1654058C>T	ENST00000378633.1	-	2	191				CDK11A_ENST00000356200.3_De_novo_Start_OutOfFrame|CDK11A_ENST00000357760.2_Intron|CDK11A_ENST00000404249.3_Intron|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378635.3_Intron|RP1-283E3.4_ENST00000417099.1_RNA|CDK11A_ENST00000378638.2_De_novo_Start_OutOfFrame|CDK11A_ENST00000358779.5_Intron			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A						apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						AAGAACTTCACCGAAGAAGCG	0.338																																					Pancreas(186;965 2119 30274 40311 50569)	ENST00000356200.3																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18								cyclin-dependent kinase 11A							41.0	15.0	23.0					1																	1654058		1706	3664	5370	SO:0001627	intron_variant	728642							g.chr1:1654058C>T	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.111+88G>A	1.37:g.1654058C>T						CDK11A_ENST00000357760.2_Intron|CDK11A_ENST00000404249.3_Intron|CDK11A_ENST00000378635.3_Intron|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Intron|CDK11A_ENST00000378633.1_Intron|CDK11A_ENST00000378638.2_De_novo_Start_OutOfFrame								0	212	-								O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Translation_Start_Site	SNP	ENST00000378633.1	37																																																																																						0.338	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		3	36	0	0	0	1	0	3	36				
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_ENST00000416165.1_Missense_Mutation_p.P100S|BAHD1_ENST00000560846.1_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	0	0	0	1	0	9	73				
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	0	0	0	1	0	29	121				
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																																						ENST00000357731.4																			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)	173			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	0	0	0	1	0	3	38				
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	0	0	0	1	0	13	286				
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	0	0	0	1	0	5	92				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	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.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	27	0	0	0	1	0	4	27				
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_ENST00000262231.10_Splice_Site|RIMS2_ENST00000406091.3_Splice_Site|RIMS2_ENST00000507740.1_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	0	0	0	1	0	7	47				
P2RY4	5030	broad.mit.edu	37	X	69478626	69478626	+	Missense_Mutation	SNP	A	A	C	rs368304042		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.chrX:69478626A>C	ENST00000374519.2	-	1	1028	c.849T>G	c.(847-849)atT>atG	p.I283M		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	283					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CCACGTTGACAATGTTCAGTA	0.542													A|||	2	0.000529801	0.0	0.0	3775	,	,		15772	0.002		0.0	False		,,,				2504	0.0					ENST00000374519.2																			0				cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						c.(847-849)atT>atG		pyrimidinergic receptor P2Y, G-protein coupled, 4							62.0	49.0	53.0					X																	69478626		2203	4300	6503	SO:0001583	missense	5030				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:69478626A>C	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.849T>G	X.37:g.69478626A>C	ENSP00000363643:p.Ile283Met						p.I283M	NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN			1	1028	-			283					Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	ENST00000374519.2	37	c.849T>G	CCDS14398.1	.	.	.	.	.	.	.	.	.	.	A	9.861	1.196304	0.22037	.	.	ENSG00000186912	ENST00000374519	T	0.20598	2.06	4.7	-3.67	0.04476	GPCR, rhodopsin-like superfamily (1);	0.279475	0.33515	U	0.004830	T	0.20981	0.0505	L	0.42632	1.34	0.24107	N	0.99586	B	0.34241	0.444	P	0.45167	0.472	T	0.23691	-1.0181	10	0.34782	T	0.22	.	10.5374	0.45013	0.3535:0.109:0.5375:0.0	.	283	P51582	P2RY4_HUMAN	M	283	ENSP00000363643:I283M	ENSP00000363643:I283M	I	-	3	3	P2RY4	69395351	0.037000	0.19845	0.800000	0.32199	0.575000	0.36095	-0.411000	0.07142	-1.220000	0.02594	-2.432000	0.00214	ATT		0.542	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565		3	17	0	0	0	1	0	3	17				
SMARCA1	6594	broad.mit.edu	37	X	128599589	128599589	+	Missense_Mutation	SNP	C	C	G			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.chrX:128599589C>G	ENST00000371122.4	-	23	3067	c.2938G>C	c.(2938-2940)Gat>Cat	p.D980H	SMARCA1_ENST00000371123.1_Missense_Mutation_p.D968H|SMARCA1_ENST00000371121.3_Missense_Mutation_p.D968H	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	980	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTTTCTCTATCAAAGCCCATT	0.363																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(2938-2940)Gat>Cat		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							171.0	152.0	158.0					X																	128599589		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128599589C>G	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2938G>C	X.37:g.128599589C>G	ENSP00000360163:p.Asp980His					SMARCA1_ENST00000371121.3_Missense_Mutation_p.D968H|SMARCA1_ENST00000371123.1_Missense_Mutation_p.D968H	p.D980H	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			23	3067	-			980			SANT 2.		Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.2938G>C	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283685	0.80803	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.86	5.64	5.64	0.86602	SANT domain, DNA binding (1);SLIDE (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000003	D	0.95357	0.8493	M	0.81614	2.55	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.996;0.997	D;D;D;D	0.67725	0.953;0.953;0.921;0.953	D	0.95514	0.8588	10	0.62326	D	0.03	-18.7469	18.706	0.91639	0.0:1.0:0.0:0.0	.	959;980;968;980	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	H	968;968;980;959	ENSP00000360162:D968H;ENSP00000360164:D968H;ENSP00000360163:D980H;ENSP00000404275:D959H	ENSP00000360162:D968H	D	-	1	0	SMARCA1	128427270	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.769000	0.85360	2.362000	0.80069	0.544000	0.68410	GAT		0.363	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		22	31	0	0	0	1	0	22	31				
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_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|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_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T498I|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR	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	0	0	0	1	0	4	68				
IFI16	3428	broad.mit.edu	37	1	158984677	158984677	+	Silent	SNP	C	C	T	rs144369567	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.chr1:158984677C>T	ENST00000295809.7	+	2	462	c.207C>T	c.(205-207)ttC>ttT	p.F69F	IFI16_ENST00000368132.3_Silent_p.F69F|IFI16_ENST00000430894.2_Silent_p.F73F|IFI16_ENST00000448393.2_Silent_p.F69F|IFI16_ENST00000359709.3_Silent_p.F69F|IFI16_ENST00000368131.4_Silent_p.F69F|IFI16_ENST00000340979.6_Silent_p.F69F			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	69	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.|Lys-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TAAAAATTTTCGAAGATATAC	0.388													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17800	0.0		0.0	False		,,,				2504	0.0					ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(205-207)ttC>ttT		interferon, gamma-inducible protein 16		C	,	7,4399		0,7,2196	70.0	75.0	73.0		207,207	-1.3	0.0	1	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	IFI16	NM_001206567.1,NM_005531.2	,	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	,	69/730,69/730	158984677	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158984677C>T	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.207C>T	1.37:g.158984677C>T						IFI16_ENST00000359709.3_Silent_p.F69F|IFI16_ENST00000340979.6_Silent_p.F69F|IFI16_ENST00000448393.2_Silent_p.F69F|IFI16_ENST00000430894.2_Silent_p.F73F|IFI16_ENST00000368131.4_Silent_p.F69F|IFI16_ENST00000368132.3_Silent_p.F69F	p.F69F			Q16666	IF16_HUMAN			2	462	+	all_hematologic(112;0.0429)		69			DAPIN.|Lys-rich.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	ENST00000295809.7	37	c.207C>T																																																																																					0.388	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		18	74	0	0	0	1	0	18	74				
RBM10	8241	broad.mit.edu	37	X	47030582	47030582	+	Missense_Mutation	SNP	G	G	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.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(355-357)gaG>gaT		RNA binding motif protein 10							20.0	19.0	19.0					X																	47030582		2202	4294	6496	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030582G>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	X.37:g.47030582G>T	ENSP00000366829:p.Glu119Asp					RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	p.E119D	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1099	+			119			Poly-Glu.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.357G>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG		0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		3	11	1	0	0.004672	1	0.00474071	3	11				
IGSF1	3547	broad.mit.edu	37	X	130416523	130416523	+	Missense_Mutation	SNP	T	T	G	rs6637826		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.chrX:130416523T>G	ENST00000361420.3	-	7	1220	c.1141A>C	c.(1141-1143)Aat>Cat	p.N381H	IGSF1_ENST00000370903.3_Missense_Mutation_p.N381H|IGSF1_ENST00000370910.1_Missense_Mutation_p.N372H|IGSF1_ENST00000370904.1_Missense_Mutation_p.N372H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	381	Ig-like C2-type 4.		N -> H (in dbSNP:rs6637826).		regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TAGGTTACATTGTTGAGGAAG	0.448													T|||	10	0.00264901	0.0	0.0	3775	,	,		14857	0.0099		0.0	False		,,,				2504	0.0					ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(1114-1116)Aat>Cat		immunoglobulin superfamily, member 1							189.0	149.0	162.0					X																	130416523		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130416523T>G	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1141A>C	X.37:g.130416523T>G	ENSP00000355010:p.Asn381His					IGSF1_ENST00000361420.3_Missense_Mutation_p.N381H|IGSF1_ENST00000370910.1_Missense_Mutation_p.N372H|IGSF1_ENST00000370903.3_Missense_Mutation_p.N381H	p.N372H			Q8N6C5	IGSF1_HUMAN			13	2024	-			381			Ig-like C2-type 4.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.1114A>C	CCDS14629.1	2	0.0012055455093429777	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	T	12.07	1.827316	0.32329	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	4.68	3.52	0.40303	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.556348	0.16852	N	0.196861	T	0.10465	0.0256	N	0.21142	0.635	0.31030	N	0.717509	P;P	0.52842	0.904;0.956	P;P	0.54210	0.542;0.745	T	0.06338	-1.0832	10	0.87932	D	0	.	6.1162	0.20127	0.0:0.1161:0.0:0.8839	rs6637826;rs52804591;rs6637826	372;381	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	H	372;381;372;381	ENSP00000359947:N372H;ENSP00000355010:N381H;ENSP00000359941:N372H;ENSP00000359940:N381H	ENSP00000355010:N381H	N	-	1	0	IGSF1	130244204	1.000000	0.71417	0.997000	0.53966	0.144000	0.21451	1.202000	0.32271	0.743000	0.32719	0.481000	0.45027	AAT		0.448	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			4	75	0	0	0	1	0	4	75				
TP53INP1	94241	broad.mit.edu	37	8	95952351	95952351	+	Silent	SNP	C	C	T	rs141483665	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.chr8:95952351C>T	ENST00000342697.4	-	3	617	c.210G>A	c.(208-210)ccG>ccA	p.P70P	TP53INP1_ENST00000378776.4_Silent_p.P70P|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Silent_p.P70P	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	70					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					CAAGAGATGCCGGTAAACAGG	0.473													C|||	19	0.00379393	0.0	0.0	5008	,	,		21444	0.0188		0.0	False		,,,				2504	0.0					ENST00000342697.4																			0				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(208-210)ccG>ccA		tumor protein p53 inducible nuclear protein 1		C	,	0,4406		0,0,2203	110.0	117.0	115.0		210,210	-3.1	0.7	8	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TP53INP1	NM_001135733.1,NM_033285.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	70/165,70/241	95952351	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				apoptosis	PML body		g.chr8:95952351C>T	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.210G>A	8.37:g.95952351C>T						TP53INP1_ENST00000378776.4_Silent_p.P70P|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Silent_p.P70P	p.P70P	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN			3	617	-	Breast(36;8.75e-07)		70					B2RCE5|Q969R9	Silent	SNP	ENST00000342697.4	37	c.210G>A	CCDS6265.1																																																																																				0.473	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			3	33	0	0	0	1	0	3	33				
ZNF354B	117608	broad.mit.edu	37	5	178310629	178310629	+	Silent	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.chr5:178310629C>T	ENST00000322434.3	+	5	1402	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	392					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)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCCTTCAGCCAGAGTGCCT	0.423																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(1174-1176)agC>agT		zinc finger protein 354B																																				SO:0001819	synonymous_variant	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310629C>T	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1176C>T	5.37:g.178310629C>T							p.S392S	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1402	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	392					A8K0V2|Q5U5Z4	Silent	SNP	ENST00000322434.3	37	c.1176C>T	CCDS4439.1																																																																																				0.423	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		4	70	0	0	0	1	0	4	70				
FOLH1B	219595	broad.mit.edu	37	11	89395322	89395322	+	RNA	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.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89395322C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89395322C>T										Q9HBA9	FOH1B_HUMAN			0	720	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.343	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		3	40	0	0	0	1	0	3	40				
ARRDC2	27106	broad.mit.edu	37	19	18119525	18119525	+	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.chr19:18119525G>A	ENST00000222250.4	+	2	423	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	ARRDC2_ENST00000379656.3_Missense_Mutation_p.G89R|ARRDC2_ENST00000608009.1_3'UTR	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	94					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						TGCAGATACCGGGGAGACCAC	0.647																																						ENST00000222250.4																			0				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						c.(280-282)Ggg>Agg		arrestin domain containing 2							67.0	70.0	69.0					19																	18119525		2203	4300	6503	SO:0001583	missense	27106							g.chr19:18119525G>A		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.280G>A	19.37:g.18119525G>A	ENSP00000222250:p.Gly94Arg					ARRDC2_ENST00000595712.1_3'UTR|ARRDC2_ENST00000379656.2_Missense_Mutation_p.G89R	p.G94R	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN			2	423	+			94					B2RBG9|O95895|Q6ZRV9|Q8WYG6	Missense_Mutation	SNP	ENST00000222250.4	37	c.280G>A	CCDS12370.1	.	.	.	.	.	.	.	.	.	.	G	32	5.167841	0.94768	.	.	ENSG00000105643	ENST00000379656;ENST00000222250	T;T	0.15952	2.56;2.38	4.38	4.38	0.52667	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.989	T	0.66224	-0.5977	10	0.72032	D	0.01	-5.1004	16.3427	0.83092	0.0:0.0:1.0:0.0	.	94;89	Q8TBH0;Q8TBH0-2	ARRD2_HUMAN;.	R	89;94	ENSP00000368977:G89R;ENSP00000222250:G94R	ENSP00000222250:G94R	G	+	1	0	ARRDC2	17980525	1.000000	0.71417	0.213000	0.23690	0.229000	0.25112	7.389000	0.79806	2.177000	0.69029	0.561000	0.74099	GGG		0.647	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		22	110	0	0	0	1	0	22	110				
MST1L	11223	broad.mit.edu	37	1	17083652	17083652	+	RNA	SNP	C	C	T	rs113710576		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.chr1:17083652C>T	ENST00000455405.2	-	0	936							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										aaatctcaaccttgagtacaa	0.388																																						ENST00000455405.2																			0																																																			0							g.chr1:17083652C>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083652C>T														0	936	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.388	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		5	89	0	0	0	1	0	5	89				
LPA	4018	broad.mit.edu	37	6	161027631	161027631	+	Missense_Mutation	SNP	G	G	A	rs546612209		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.chr6:161027631G>A	ENST00000316300.5	-	17	2707	c.2663C>T	c.(2662-2664)aCg>aTg	p.T888M	LPA_ENST00000447678.1_Missense_Mutation_p.T888M			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3396	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGGATCCCTCGTATAACAATA	0.522													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15266	0.0		0.0	False		,,,				2504	0.0					ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(2662-2664)aCg>aTg		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						124.0	129.0	128.0					6																	161027631		2110	4276	6386	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161027631G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2663C>T	6.37:g.161027631G>A	ENSP00000321334:p.Thr888Met					LPA_ENST00000316300.5_Missense_Mutation_p.T888M	p.T888M	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	18	2783	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3396			Kringle 8.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.2663C>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	9.323	1.058609	0.19987	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.70986	-0.53;-0.53	2.18	2.18	0.27775	Kringle (4);Kringle-like fold (1);	.	.	.	.	D	0.86460	0.5938	H	0.99555	4.625	0.21220	N	0.999755	D	0.76494	0.999	D	0.83275	0.996	T	0.75465	-0.3308	9	0.87932	D	0	.	7.8483	0.29440	0.0:0.0:1.0:0.0	.	3396	P08519	APOA_HUMAN	M	888	ENSP00000321334:T888M;ENSP00000395608:T888M	ENSP00000321334:T888M	T	-	2	0	LPA	160947621	1.000000	0.71417	0.148000	0.22405	0.136000	0.21042	4.259000	0.58828	1.215000	0.43411	0.184000	0.17185	ACG		0.522	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		45	182	0	0	0	1	0	45	182				
PCDHA10	56139	broad.mit.edu	37	5	140237387	140237387	+	Missense_Mutation	SNP	T	T	G	rs251364	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.chr5:140237387T>G	ENST00000307360.5	+	1	1754	c.1754T>G	c.(1753-1755)gTt>gGt	p.V585G	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	585			V -> G (in dbSNP:rs251364).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTCGGTGGTTGCGGGTCAC	0.662													.|||	3050	0.609026	0.6944	0.5605	5008	,	,		15693	0.4474		0.6412	False		,,,				2504	0.6616					ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1753-1755)gTt>gGt				G	,GLY/VAL,,,,,,,,,,,GLY/VAL,	1816,828		676,464,182	88.0	82.0	84.0		,1754,,,,,,,,,,,1754,	1.7	0.1	5	dbSNP_79	84	2856,1726		996,864,431	no	intron,missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron	PCDHA9,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031859.1,NM_031860.1	,109,,,,,,,,,,,109,	1672,1328,613	GG,GT,TT		37.6691,31.3162,35.3446	,,,,,,,,,,,,,	,585/949,,,,,,,,,,,585/845,	140237387	4672,2554	1322	2291	3613	SO:0001583	missense	0							g.chr5:140237387T>G	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1754T>G	5.37:g.140237387T>G	ENSP00000304234:p.Val585Gly					PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.V585G	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1754	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1754T>G	CCDS54921.1	1339	0.6130952380952381	351	0.7134146341463414	233	0.643646408839779	267	0.46678321678321677	488	0.6437994722955145	G	0.001	-3.128858	0.00031	0.686838	0.623309	ENSG00000250120	ENST00000307360	T	0.38240	1.15	3.68	1.7	0.24286	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.01109	-1.01	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.37407	-0.9707	8	0.12103	T	0.63	.	0.3594	0.00362	0.3016:0.1903:0.3138:0.1943	rs251364;rs17844345;rs52819920;rs61383662	585;585	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	G	585	ENSP00000304234:V585G	ENSP00000304234:V585G	V	+	2	0	PCDHA10	140217571	0.000000	0.05858	0.143000	0.22291	0.003000	0.03518	0.501000	0.22578	0.360000	0.24265	-0.323000	0.08544	GTT		0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		5	41	0	0	0	1	0	5	41				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	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.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000424775.1																			0				endometrium(1)	1																																														0							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA								0	440	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			3	32	0	0	0	1	0	3	32				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		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.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	49	0	0	0	1	0	5	49				
SETDB2	83852	broad.mit.edu	37	13	50051103	50051103	+	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.chr13:50051103G>A	ENST00000317257.8	+	7	1658	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	SETDB2_ENST00000354234.4_Missense_Mutation_p.R266Q|SETDB2_ENST00000258672.5_Missense_Mutation_p.R266Q	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	278					chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)	p.R278Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		GTGTGGCCTCGAGCATATAAT	0.408																																						ENST00000354234.4																			1	Substitution - Missense(1)	p.R278Q(1)	endometrium(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(796-798)cGa>cAa		SET domain, bifurcated 2							74.0	74.0	74.0					13																	50051103		2203	4300	6503	SO:0001583	missense	83852				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding	g.chr13:50051103G>A	AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.833G>A	13.37:g.50051103G>A	ENSP00000326477:p.Arg278Gln					SETDB2_ENST00000317257.8_Missense_Mutation_p.R278Q|SETDB2_ENST00000258672.5_Missense_Mutation_p.R266Q	p.R266Q	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)	6	1703	+		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	278					Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	ENST00000317257.8	37	c.797G>A	CCDS9417.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769774	0.31320	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	T;T;T	0.76186	-1.0;-1.0;-1.0	5.85	4.99	0.66335	Pre-SET domain (1);	0.158236	0.56097	D	0.000021	T	0.80439	0.4623	M	0.64170	1.965	0.37211	D	0.904822	D;D;D	0.89917	0.987;1.0;1.0	P;D;D	0.73380	0.638;0.966;0.98	T	0.79115	-0.1936	10	0.13108	T	0.6	.	9.6002	0.39598	0.0704:0.2707:0.6588:0.0	.	278;266;278	Q96T68-3;Q96T68-2;Q96T68	.;.;SETB2_HUMAN	Q	266;278;266	ENSP00000346175:R266Q;ENSP00000326477:R278Q;ENSP00000258672:R266Q	ENSP00000258672:R266Q	R	+	2	0	SETDB2	48949104	0.995000	0.38212	0.918000	0.36340	0.011000	0.07611	1.356000	0.34079	1.441000	0.47550	0.655000	0.94253	CGA		0.408	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044925.1	NM_031915		4	79	0	0	0	1	0	4	79				
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_ENST00000510784.2_Splice_Site_p.F393C|FAM65B_ENST00000538035.1_Splice_Site_p.F388C|FAM65B_ENST00000540914.1_Splice_Site_p.F359C|FAM65B_ENST00000378023.4_Splice_Site_p.F359C	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.e12+1		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.F393_splice|FAM65B_ENST00000538035.1_Splice_Site_p.F388_splice|FAM65B_ENST00000378023.4_Splice_Site_p.F359_splice|FAM65B_ENST00000540914.1_Splice_Site_p.F359_splice	p.F359_splice	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN			12	1251	-			359					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Splice_Site	SNP	ENST00000259698.4	37	c.1077_splice	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	0	0	0	1	0	16	44				
COL26A1	136227	broad.mit.edu	37	7	101183330	101183330	+	RNA	SNP	G	G	A	rs201464621	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.chr7:101183330G>A	ENST00000397927.3	+	0	817				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											GGGCCCAGCCGGTGAGTGAGG	0.662													G|||	2	0.000399361	0.0	0.0029	5008	,	,		17019	0.0		0.0	False		,,,				2504	0.0					ENST00000313669.7																			0													collagen, type XXVI, alpha 1		G	ARG/GLY	1,3947		0,1,1973	21.0	26.0	24.0		598	4.0	0.8	7		24	18,8322		0,18,4152	yes	missense-near-splice	EMID2	NM_133457.2	125	0,19,6125	AA,AG,GG		0.2158,0.0253,0.1546	probably-damaging	200/440	101183330	19,12269	1974	4170	6144			136227							g.chr7:101183330G>A	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101183330G>A						COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA		NM_133457.2	NP_597714.2					0	796	+								Q32M90	RNA	SNP	ENST00000397927.3	37			.	.	.	.	.	.	.	.	.	.	G	14.52	2.561064	0.45590	2.53E-4	0.002158	ENSG00000160963	ENST00000313669	D	0.98807	-5.15	4.87	3.98	0.46160	.	0.122741	0.36482	N	0.002569	D	0.99345	0.9770	H	0.96662	3.86	0.27065	N	0.963466	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96472	0.9349	10	0.87932	D	0	.	10.575	0.45223	0.0:0.0:0.8072:0.1928	.	202;202	Q96A83;C9JPW4	EMID2_HUMAN;.	R	202	ENSP00000318234:G202R	ENSP00000318234:G202R	G	+	1	0	EMID2	100970050	1.000000	0.71417	0.794000	0.32065	0.135000	0.20990	5.347000	0.65998	1.029000	0.39812	0.549000	0.68633	GGG		0.662	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		3	39	0	0	0	1	0	3	39				
SNHG14	104472715	broad.mit.edu	37	15	25430654	25430654	+	RNA	SNP	G	G	A	rs72546347	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.chr15:25430654G>A	ENST00000424208.1	+	0	515				SNORD115-10_ENST00000365073.1_RNA|SNORD115-8_ENST00000363856.1_RNA|SNORD115-9_ENST00000362912.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGCCAGCCACGTGCTCAGCCT	0.587													-|||	445	0.0888578	0.0212	0.0101	5008	,	,		18126	0.253		0.0388	False		,,,				2504	0.1186					ENST00000424208.1																			0																																																			0							g.chr15:25430654G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25430654G>A								NR_003305.1						0	515	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.587	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			4	47	0	0	0	1	0	4	47				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		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.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	49	0	0	0	1	0	5	49				
KLHL36	79786	broad.mit.edu	37	16	84695401	84695401	+	Missense_Mutation	SNP	A	A	G	rs149485033	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.chr16:84695401A>G	ENST00000564996.1	+	5	1654	c.1513A>G	c.(1513-1515)Atc>Gtc	p.I505V	KLHL36_ENST00000258157.5_Missense_Mutation_p.I442V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	505					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CGATGACAACATCGAGTCCAT	0.682													A|||	2	0.000399361	0.0	0.0	5008	,	,		15251	0.002		0.0	False		,,,				2504	0.0					ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1513-1515)Atc>Gtc		kelch-like family member 36							67.0	59.0	62.0					16																	84695401		2199	4300	6499	SO:0001583	missense	79786							g.chr16:84695401A>G	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1513A>G	16.37:g.84695401A>G	ENSP00000456743:p.Ile505Val					KLHL36_ENST00000258157.5_Missense_Mutation_p.I442V	p.I505V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			5	1654	+			505					Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.1513A>G	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.100471	0.00360	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.65549	-0.16	5.49	-4.43	0.03568	Kelch-type beta propeller (1);	0.582726	0.18606	N	0.136315	T	0.34135	0.0887	N	0.14661	0.345	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.17198	-1.0377	10	0.18276	T	0.48	.	7.9621	0.30076	0.3251:0.2445:0.4304:0.0	.	442;505	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	V	505;442	ENSP00000258157:I442V	ENSP00000258157:I442V	I	+	1	0	KLHL36	83252902	0.229000	0.23729	0.093000	0.20910	0.039000	0.13416	0.304000	0.19228	-1.301000	0.02338	-0.912000	0.02778	ATC		0.682	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			3	37	0	0	0	1	0	3	37				
DDX11	1663	broad.mit.edu	37	12	31238023	31238023	+	Missense_Mutation	SNP	G	G	A	rs200798160		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.chr12:31238023G>A	ENST00000407793.2	+	5	852	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	DDX11_ENST00000545668.1_Missense_Mutation_p.E201K|DDX11_ENST00000228264.6_Missense_Mutation_p.E175K|DDX11_ENST00000251758.5_Missense_Mutation_p.E201K|DDX11_ENST00000542838.1_Missense_Mutation_p.E201K|DDX11_ENST00000350437.4_Missense_Mutation_p.E201K	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	201	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGTCCTCGCCGAATACGAGAG	0.617										Multiple Myeloma(12;0.14)																												ENST00000251758.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(601-603)Gaa>Aaa		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							25.0	27.0	26.0					12																	31238023		2202	4290	6492	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31238023G>A	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.601G>A	12.37:g.31238023G>A	ENSP00000384703:p.Glu201Lys	Multiple Myeloma(12;0.14)				DDX11_ENST00000545668.1_Missense_Mutation_p.E201K|DDX11_ENST00000350437.4_Missense_Mutation_p.E201K|DDX11_ENST00000542838.1_Missense_Mutation_p.E201K|DDX11_ENST00000407793.2_Missense_Mutation_p.E201K|DDX11_ENST00000228264.6_Missense_Mutation_p.E175K	p.E201K			Q96FC9	DDX11_HUMAN			5	852	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		201			Glu-rich.|Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.601G>A	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483780	0.63962	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	T;T;T;T;T;T;T;T	0.80994	-1.44;-0.58;4.09;-1.33;0.2;4.03;-0.58;-1.14	3.7	3.7	0.42460	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.000000	0.85682	D	0.000000	D	0.89223	0.6654	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.997;0.998;0.999	D	0.90374	0.4383	10	0.59425	D	0.04	.	13.0553	0.58977	0.0:0.0:1.0:0.0	.	201;201;201;201	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	K	201;201;201;175;172;175;201;201	ENSP00000443426:E201K;ENSP00000384703:E201K;ENSP00000251758:E201K;ENSP00000228264:E175K;ENSP00000407646:E172K;ENSP00000406457:E175K;ENSP00000440402:E201K;ENSP00000309965:E201K	ENSP00000228264:E175K	E	+	1	0	DDX11	31129290	1.000000	0.71417	0.016000	0.15963	0.202000	0.24057	8.091000	0.89528	1.895000	0.54865	0.505000	0.49811	GAA		0.617	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		4	12	0	0	0	1	0	4	12				
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_ENST00000430469.2_Intron|PDHX_ENST00000227868.4_Missense_Mutation_p.A280V	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	0	0	0	1	0	12	44				
ZNF430	80264	broad.mit.edu	37	19	21239844	21239844	+	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.chr19:21239844T>C	ENST00000261560.5	+	5	911	c.730T>C	c.(730-732)Tgg>Cgg	p.W244R	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	244					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AGTCTTTAACTGGTTCTCAAC	0.363																																						ENST00000261560.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(730-732)Tgg>Cgg		zinc finger protein 430							52.0	58.0	56.0					19																	21239844		2203	4300	6503	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21239844T>C	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.730T>C	19.37:g.21239844T>C	ENSP00000261560:p.Trp244Arg						p.W244R	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN			5	911	+			244					Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.730T>C	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	0.634	-0.816054	0.02776	.	.	ENSG00000118620	ENST00000261560	T	0.35048	1.33	1.04	1.04	0.20106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08582	0.0213	N	0.00453	-1.485	0.09310	N	1	B;B	0.17038	0.012;0.02	B;B	0.17979	0.016;0.02	T	0.34875	-0.9811	9	0.16420	T	0.52	.	3.7559	0.08585	0.0:0.4832:0.0:0.5168	.	243;244	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	R	244	ENSP00000261560:W244R	ENSP00000261560:W244R	W	+	1	0	ZNF430	21031684	0.000000	0.05858	0.018000	0.16275	0.017000	0.09413	-4.316000	0.00254	0.383000	0.24910	0.374000	0.22700	TGG		0.363	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		10	37	0	0	0	1	0	10	37				
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247		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.chr6:32725559C>T	ENST00000437316.2	-	4	811	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.G250S|HLA-DQB2_ENST00000411527.1_Intron			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	254					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(748-750)Ggt>Agt		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725559C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.748G>A	6.37:g.32725559C>T	ENSP00000396330:p.Gly250Ser					HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S	p.G250S			Q5SR06	Q5SR06_HUMAN			4	809	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.748G>A		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.519393	0.00149	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00623	6.18;6.15	3.24	-1.21	0.09524	.	0.870743	0.09631	N	0.776240	T	0.00178	0.0005	.	.	.	0.21967	N	0.999447	B	0.10296	0.003	B	0.09377	0.004	T	0.22277	-1.0221	9	0.36615	T	0.2	.	4.3261	0.11041	0.0:0.2114:0.1703:0.6183	.	250	A2ADX3	.	S	250	ENSP00000396330:G250S;ENSP00000410512:G250S	ENSP00000410512:G250S	G	-	1	0	HLA-DQB2	32833537	0.000000	0.05858	0.134000	0.22075	0.023000	0.10783	0.266000	0.18534	-0.331000	0.08501	-1.846000	0.00573	GGT		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			5	27	0	0	0	1	0	5	27				
BICD1	636	broad.mit.edu	37	12	32481467	32481467	+	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.chr12:32481467C>T	ENST00000281474.5	+	5	2181	c.2078C>T	c.(2077-2079)gCg>gTg	p.A693V	BICD1_ENST00000548411.1_Missense_Mutation_p.A693V	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	693	Interacts with RAB6A.				anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ACATTGAGGGCGGTGTTGAAA	0.443																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(2077-2079)gCg>gTg		bicaudal D homolog 1 (Drosophila)							58.0	58.0	58.0					12																	32481467		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32481467C>T	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2078C>T	12.37:g.32481467C>T	ENSP00000281474:p.Ala693Val					BICD1_ENST00000281474.5_Missense_Mutation_p.A693V	p.A693V	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	2259	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		693			Interacts with RAB6A.		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.2078C>T	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559152	0.27827	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.44083	0.93;0.93	5.05	5.05	0.67936	.	0.146454	0.48286	D	0.000193	T	0.36771	0.0979	L	0.53249	1.67	0.80722	D	1	P;P	0.45240	0.621;0.854	B;B	0.31946	0.05;0.138	T	0.39583	-0.9607	10	0.41790	T	0.15	.	18.4173	0.90575	0.0:1.0:0.0:0.0	.	693;693	F8W113;Q96G01	.;BICD1_HUMAN	V	693	ENSP00000446793:A693V;ENSP00000281474:A693V	ENSP00000281474:A693V	A	+	2	0	BICD1	32372734	1.000000	0.71417	0.895000	0.35142	0.234000	0.25298	5.479000	0.66813	2.333000	0.79357	0.655000	0.94253	GCG		0.443	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		14	76	0	0	0	1	0	14	76				
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	0	0	0	1	0	4	61				
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_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000447903.2_Frame_Shift_Del_p.T94fs	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)afs		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_ENST00000309812.4_Frame_Shift_Del_p.T166fs|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'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	---	---	---	---
POC1B	282809	broad.mit.edu	37	12	89919725	89919725	+	5'UTR	DEL	A	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.chr12:89919725delA	ENST00000313546.3	-	0	76				POC1B_ENST00000549504.1_5'Flank|POC1B-GALNT4_ENST00000547474.1_5'UTR|GALNT4_ENST00000413530.1_Frame_Shift_Del_p.S70fs|RP11-734K2.4_ENST00000605233.1_RNA|POC1B-GALNT4_ENST00000548729.1_5'UTR|GALNT4_ENST00000529983.2_5'Flank|POC1B_ENST00000541909.1_5'UTR|POC1B_ENST00000393179.4_5'Flank|POC1B_ENST00000549035.1_5'Flank	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B						cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						Cggagaggggaggggagagga	0.706																																						ENST00000413530.1																			0											c.(208-210)ccfs									3.0	4.0	4.0					12																	89919725		605	1445	2050	SO:0001623	5_prime_UTR_variant	0							g.chr12:89919725delA	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.-53T>-	12.37:g.89919725delA						POC1B_ENST00000313546.3_5'UTR|POC1B_ENST00000541909.1_5'UTR|POC1B-GALNT4_ENST00000548729.1_5'UTR|POC1B-GALNT4_ENST00000547474.1_5'UTR|RP11-734K2.4_ENST00000605233.1_RNA	p.S70fs							1	314	-								G3V1X0	Frame_Shift_Del	DEL	ENST00000313546.3	37	c.208delT	CCDS31869.1																																																																																				0.706	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		2	4						2	4	---	---	---	---
