#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
OR2D2	120776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	6912815	6912815	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr11:6912815T>C	ENST00000299459.2	-	1	1015	c.917A>G	c.(916-918)aAt>aGt	p.N306S		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	306					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCATGGGAAATTCCTTGTGGC	0.458																																																0													70.0	62.0	64.0					11																	6912815		2201	4296	6497	SO:0001583	missense	120776			AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.917A>G	11.37:g.6912815T>C	ENSP00000299459:p.Asn306Ser		B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	t	0.010	-1.770382	0.00645	.	.	ENSG00000166368	ENST00000299459	T	0.10099	2.91	4.98	3.85	0.44370	.	0.367469	0.23404	N	0.048548	T	0.06234	0.0161	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40961	-0.9535	10	0.10636	T	0.68	-23.414	9.3288	0.38010	0.0:0.0857:0.0:0.9143	.	306	Q9H210	OR2D2_HUMAN	S	306	ENSP00000299459:N306S	ENSP00000299459:N306S	N	-	2	0	OR2D2	6869391	0.000000	0.05858	0.006000	0.13384	0.247000	0.25773	-0.097000	0.11042	1.029000	0.39812	-0.289000	0.09944	AAT		0.458	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		11	44	11	44
CLEC4D	338339	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	8673735	8673735	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr12:8673735T>G	ENST00000299665.2	+	6	709	c.516T>G	c.(514-516)aaT>aaG	p.N172K		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	172	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GGCATAAGAATGAACCCGACA	0.333																																																0													124.0	119.0	120.0					12																	8673735		2203	4300	6503	SO:0001583	missense	338339			AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.516T>G	12.37:g.8673735T>G	ENSP00000299665:p.Asn172Lys		Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	37	CCDS8593.1	.	.	.	.	.	.	.	.	.	.	T	6.862	0.528451	0.13127	.	.	ENSG00000166527	ENST00000299665	T	0.17370	2.28	4.0	1.57	0.23409	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.18299	0.0439	M	0.64404	1.975	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.27123	-1.0083	9	0.62326	D	0.03	.	5.8118	0.18469	0.0:0.1007:0.1744:0.7249	.	172	Q8WXI8	CLC4D_HUMAN	K	172	ENSP00000299665:N172K	ENSP00000299665:N172K	N	+	3	2	CLEC4D	8565002	0.005000	0.15991	0.013000	0.15412	0.001000	0.01503	-0.152000	0.10159	0.030000	0.15379	-1.171000	0.01739	AAT		0.333	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		27	35	27	35
TTBK2	146057	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	43102841	43102841	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr15:43102841A>C	ENST00000267890.6	-	9	901	c.793T>G	c.(793-795)Ttg>Gtg	p.L265V	TTBK2_ENST00000567274.1_Missense_Mutation_p.L230V|TTBK2_ENST00000567840.1_Missense_Mutation_p.L265V	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AAATAATCCAAAGAAGAGATA	0.398																																																0													108.0	103.0	105.0					15																	43102841		1854	4089	5943	SO:0001583	missense	146057			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.793T>G	15.37:g.43102841A>C	ENSP00000267890:p.Leu265Val		O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684463	0.68157	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.22336	1.96	5.85	3.43	0.39272	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064498	0.64402	D	0.000007	T	0.52581	0.1743	H	0.95365	3.66	0.48135	D	0.999598	D;D;D;D	0.76494	0.999;0.994;0.993;0.989	D;D;P;D	0.76575	0.988;0.962;0.88;0.967	T	0.57493	-0.7802	10	0.87932	D	0	.	6.2946	0.21079	0.7244:0.1355:0.1401:0.0	.	245;196;265;265	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	V	265;195;245	ENSP00000267890:L265V	ENSP00000263802:L245V	L	-	1	2	TTBK2	40890133	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.107000	0.41844	1.046000	0.40249	0.533000	0.62120	TTG		0.398	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		27	46	27	46
GLIS2	84662	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	4385109	4385109	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr16:4385109G>C	ENST00000262366.3	+	6	1392	c.571G>C	c.(571-573)Gat>Cat	p.D191H	PAM16_ENST00000577031.1_Intron|RP11-295D4.1_ENST00000574705.1_RNA|GLIS2_ENST00000433375.1_Missense_Mutation_p.D191H			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	191					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCATGTCAACGATTACCATGT	0.617																																																0													73.0	79.0	77.0					16																	4385109		2197	4300	6497	SO:0001583	missense	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.571G>C	16.37:g.4385109G>C	ENSP00000262366:p.Asp191His		B3KX84	Missense_Mutation	SNP	ENST00000262366.3	37	CCDS10511.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935075	0.92458	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	D;D	0.91237	-2.81;-2.81	5.53	5.53	0.82687	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.115605	0.56097	D	0.000026	D	0.87481	0.6188	L	0.45422	1.42	0.80722	D	1	P	0.36330	0.548	B	0.32583	0.148	D	0.87960	0.2729	10	0.62326	D	0.03	.	18.2987	0.90155	0.0:0.0:1.0:0.0	.	191	Q9BZE0	GLIS2_HUMAN	H	191	ENSP00000262366:D191H;ENSP00000395547:D191H	ENSP00000262366:D191H	D	+	1	0	GLIS2	4325110	1.000000	0.71417	0.978000	0.43139	0.916000	0.54674	7.795000	0.85887	2.615000	0.88500	0.555000	0.69702	GAT		0.617	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		47	77	47	77
PPOX	5498	hgsc.bcm.edu;broad.mit.edu	37	1	161139471	161139471	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr1:161139471C>G	ENST00000367999.4	+	8	1095	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V	PPOX_ENST00000544598.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.L277V|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	277					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGACAGCAGTCTGGAGGCTGA	0.473																																																0													138.0	123.0	128.0					1																	161139471		2203	4300	6503	SO:0001583	missense	5498			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.829C>G	1.37:g.161139471C>G	ENSP00000356978:p.Leu277Val		D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333293	0.41297	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935	D;D	0.92149	-2.98;-2.98	5.85	3.99	0.46301	Amine oxidase (1);	0.398479	0.26000	N	0.026942	T	0.79879	0.4522	L	0.41079	1.255	0.80722	D	1	P;B;B	0.42123	0.771;0.287;0.338	B;B;B	0.44224	0.444;0.132;0.121	T	0.75769	-0.3201	10	0.13853	T	0.58	-3.986	5.6404	0.17561	0.1574:0.6797:0.0:0.1629	.	244;115;277	B4DY76;B3KT30;P50336	.;.;PPOX_HUMAN	V	277;277;244	ENSP00000343943:L277V;ENSP00000356978:L277V	ENSP00000343943:L277V	L	+	1	2	PPOX	159406095	0.970000	0.33590	1.000000	0.80357	0.995000	0.86356	0.287000	0.18920	0.805000	0.34159	0.650000	0.86243	CTG		0.473	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		9	121	9	121
FAM65C	140876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	49224997	49224997	+	Silent	SNP	C	C	T			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr20:49224997C>T	ENST00000327979.2	-	11	1284	c.873G>A	c.(871-873)acG>acA	p.T291T	FAM65C_ENST00000535356.1_Silent_p.T295T|FAM65C_ENST00000045083.2_Silent_p.T291T			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	291										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGCGGCCGCGTCGTGAAGA	0.662																																																0													99.0	87.0	91.0					20																	49224997		2203	4300	6503	SO:0001819	synonymous_variant	140876			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.873G>A	20.37:g.49224997C>T			Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	37	CCDS13431.2																																																																																				0.662	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			72	102	72	102
CRYAA	1409	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	21	44592355	44592355	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr21:44592355C>T	ENST00000291554.2	+	3	579	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	CRYAA_ENST00000398132.1_Missense_Mutation_p.R126W|CRYAA_ENST00000482775.1_3'UTR|CRYAA_ENST00000398133.1_Missense_Mutation_p.R143W	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	163					negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CCCCGTGTCGCGGGAGGAGAA	0.677																																																0													58.0	46.0	50.0					21																	44592355		2202	4299	6501	SO:0001583	missense	1409				CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"""Heat shock proteins / HSPB"""	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.487C>T	21.37:g.44592355C>T	ENSP00000291554:p.Arg163Trp		Q53X53	Missense_Mutation	SNP	ENST00000291554.2	37	CCDS13695.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361299	0.61403	.	.	ENSG00000160202	ENST00000291554;ENST00000398133;ENST00000398132	D;D;D	0.93604	-2.98;-3.25;-3.24	3.79	3.79	0.43588	.	0.000000	0.85682	D	0.000000	D	0.93514	0.7930	M	0.75085	2.285	0.58432	D	0.999999	D	0.67145	0.996	P	0.49561	0.615	D	0.93703	0.7017	10	0.87932	D	0	-22.7945	11.042	0.47835	0.1861:0.8139:0.0:0.0	.	163	P02489	CRYAA_HUMAN	W	163;143;126	ENSP00000291554:R163W;ENSP00000381201:R143W;ENSP00000381200:R126W	ENSP00000291554:R163W	R	+	1	2	CRYAA	43465424	1.000000	0.71417	0.975000	0.42487	0.488000	0.33401	4.160000	0.58164	1.684000	0.51022	0.298000	0.19748	CGG		0.677	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195562.1			34	40	34	40
SLC35E4	339665	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	31032741	31032741	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr22:31032741A>G	ENST00000343605.4	+	1	1103	c.304A>G	c.(304-306)Atg>Gtg	p.M102V	SLC35E4_ENST00000300385.8_Missense_Mutation_p.M102V|SLC35E4_ENST00000406566.1_Missense_Mutation_p.M102V	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	102						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						ACGGCGCCCCATGCCAGGCGG	0.687																																																0													38.0	26.0	30.0					22																	31032741		2202	4298	6500	SO:0001583	missense	339665				CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.304A>G	22.37:g.31032741A>G	ENSP00000339626:p.Met102Val		Q567P0	Missense_Mutation	SNP	ENST00000343605.4	37	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	A	1.429	-0.570647	0.03910	.	.	ENSG00000100036	ENST00000343605;ENST00000300385;ENST00000406566;ENST00000451479	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.48	-4.8	0.03190	Drug/metabolite transporter (1);	0.390386	0.28706	N	0.014408	T	0.15955	0.0384	N	0.08118	0	0.58432	D	0.999997	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.06679	-1.0813	10	0.22706	T	0.39	-4.3115	0.7367	0.00967	0.1598:0.2863:0.2001:0.3538	.	102;102	Q6ICL7-2;Q6ICL7	.;S35E4_HUMAN	V	102;102;102;78	ENSP00000339626:M102V;ENSP00000300385:M102V;ENSP00000384377:M102V;ENSP00000413552:M78V	ENSP00000300385:M102V	M	+	1	0	SLC35E4	29362741	0.429000	0.25530	0.894000	0.35097	0.456000	0.32438	-0.113000	0.10774	-0.962000	0.03604	0.448000	0.29417	ATG		0.687	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		11	27	11	27
PLB1	151056	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	28772947	28772947	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:28772947T>C	ENST00000327757.5	+	16	1123	c.1079T>C	c.(1078-1080)cTt>cCt	p.L360P	PLB1_ENST00000422425.2_Missense_Mutation_p.L371P|PLB1_ENST00000329020.6_Missense_Mutation_p.L48P	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	360	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAAGACAAGCTTGAGGTAAGG	0.453																																																0													80.0	71.0	74.0					2																	28772947		2203	4300	6503	SO:0001583	missense	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1079T>C	2.37:g.28772947T>C	ENSP00000330442:p.Leu360Pro		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	T	6.315	0.426181	0.11987	.	.	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020	T;T;T;T	0.14391	2.54;2.51;2.59;2.6	4.55	-7.75	0.01236	.	1.903720	0.02042	N	0.049353	T	0.07503	0.0189	N	0.20685	0.6	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.27054	-1.0085	10	0.30078	T	0.28	1.5122	5.7719	0.18257	0.261:0.4653:0.0:0.2737	.	371;48;360	Q6P1J6-3;Q6P1J6-2;Q6P1J6	.;.;PLB1_HUMAN	P	360;371;70;48	ENSP00000330442:L360P;ENSP00000416440:L371P;ENSP00000392493:L70P;ENSP00000330729:L48P	ENSP00000330442:L360P	L	+	2	0	PLB1	28626451	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.104000	0.00603	-1.130000	0.02914	-1.363000	0.01210	CTT		0.453	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			9	16	9	16
R3HDM1	23518	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	136467732	136467732	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:136467732C>G	ENST00000264160.4	+	22	2932	c.2562C>G	c.(2560-2562)aaC>aaG	p.N854K	R3HDM1_ENST00000409478.1_Missense_Mutation_p.N726K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.N725K|R3HDM1_ENST00000409606.1_Missense_Mutation_p.N855K|R3HDM1_ENST00000410054.1_Missense_Mutation_p.N799K	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	854							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GGAAACAAAACAAATATTACT	0.453											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													128.0	117.0	121.0					2																	136467732		2203	4300	6503	SO:0001583	missense	23518			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2562C>G	2.37:g.136467732C>G	ENSP00000264160:p.Asn854Lys	1626	A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	CCDS2177.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	12.77|12.77|12.77	2.038939|2.038939|2.038939	0.35989|0.35989|0.35989	.|.|.	.|.|.	ENSG00000048991|ENSG00000048991|ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000429703|ENST00000445855	T;T;T;T;T|.|.	0.30714|.|.	1.56;1.52;1.56;1.55;1.53|.|.	5.49|5.49|5.49	0.584|0.584|0.584	0.17422|0.17422|0.17422	.|.|.	0.330928|.|.	0.35040|.|.	N|.|.	0.003495|.|.	T|T|T	0.41581|0.41581|0.41581	0.1165|0.1165|0.1165	L|L|L	0.54323|0.54323|0.54323	1.7|1.7|1.7	0.25119|0.25119|0.25119	N|N|N	0.99065|0.99065|0.99065	D;P;P;P|.|.	0.69078|.|.	0.997;0.682;0.791;0.791|.|.	P;B;B;B|.|.	0.61397|.|.	0.888;0.151;0.343;0.343|.|.	T|T|T	0.34229|0.34229|0.34229	-0.9837|-0.9837|-0.9837	10|5|5	0.22109|.|.	T|.|.	0.4|.|.	-4.2823|-4.2823|-4.2823	8.1846|8.1846|8.1846	0.31330|0.31330|0.31330	0.0:0.4223:0.0:0.5777|0.0:0.4223:0.0:0.5777|0.0:0.4223:0.0:0.5777	.|.|.	726;855;799;854|.|.	G5E9G8;E9PBB4;E9PG42;Q15032|.|.	.;.;.;R3HD1_HUMAN|.|.	K|E|R	726;854;725;799;855|578|150	ENSP00000386457:N726K;ENSP00000264160:N854K;ENSP00000331396:N725K;ENSP00000386877:N799K;ENSP00000387010:N855K|.|.	ENSP00000264160:N854K|.|.	N|Q|T	+|+|+	3|1|2	2|0|0	R3HDM1|R3HDM1|R3HDM1	136184202|136184202|136184202	0.994000|0.994000|0.994000	0.37717|0.37717|0.37717	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	0.191000|0.191000|0.191000	0.17076|0.17076|0.17076	0.291000|0.291000|0.291000	0.22468|0.22468|0.22468	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	AAC|CAA|ACA		0.453	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		16	86	16	86
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			33	39	33	39
GTF2H4	2968	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	30879464	30879464	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:30879464T>C	ENST00000259895.4	+	9	968	c.745T>C	c.(745-747)Tac>Cac	p.Y249H	GTF2H4_ENST00000376316.2_Missense_Mutation_p.Y249H|VARS2_ENST00000321897.5_5'Flank|GTF2H4_ENST00000539324.1_Missense_Mutation_p.Y193H|VARS2_ENST00000416670.2_5'Flank|VARS2_ENST00000541562.1_5'Flank|VARS2_ENST00000542001.1_5'Flank	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	249					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCCTCAGGATTACTCTGTGGA	0.478								Nucleotide excision repair (NER)																																								0													97.0	91.0	94.0					6																	30879464		1511	2709	4220	SO:0001583	missense	2968			Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4658	protein-coding gene	gene with protein product		601760	"""general transcription factor IIH, polypeptide 4 (52kD subunit)"""			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.745T>C	6.37:g.30879464T>C	ENSP00000259895:p.Tyr249His		B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	37	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167792	0.78339	.	.	ENSG00000213780	ENST00000259895;ENST00000539324;ENST00000376316	T;T;T	0.69306	-0.39;-0.39;-0.39	5.57	5.57	0.84162	.	0.000000	0.64402	U	0.000002	D	0.83142	0.5190	M	0.93462	3.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.87342	0.2332	10	0.62326	D	0.03	-17.1309	13.6872	0.62524	0.0:0.0:0.0:1.0	.	255;193;249;249	B4DNU0;B4DTJ5;Q53HH3;Q92759	.;.;.;TF2H4_HUMAN	H	249;193;249	ENSP00000259895:Y249H;ENSP00000442700:Y193H;ENSP00000365493:Y249H	ENSP00000259895:Y249H	Y	+	1	0	GTF2H4	30987443	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.389000	0.79806	2.106000	0.64143	0.533000	0.62120	TAC		0.478	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		37	56	37	56
TNF	7124	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	31545282	31545282	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:31545282G>A	ENST00000449264.2	+	4	845	c.670G>A	c.(670-672)Ggg>Agg	p.G224R		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	224					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|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)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	TGCCGAGTCTGGGCAGGTCTA	0.567									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																							0													64.0	63.0	63.0					6																	31545282		1509	2709	4218	SO:0001583	missense	7124	Familial Cancer Database	incl.: Familial Head and Neck Cancer	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"""Tumor necrosis factor (ligand) superfamily"""	11892	protein-coding gene	gene with protein product	"""TNF superfamily, member 2"""	191160	"""tumor necrosis factor (TNF superfamily, member 2)"""	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.670G>A	6.37:g.31545282G>A	ENSP00000398698:p.Gly224Arg		O43647|Q9P1Q2|Q9UIV3	Missense_Mutation	SNP	ENST00000449264.2	37	CCDS4702.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158431	0.78114	.	.	ENSG00000232810	ENST00000449264	T	0.48836	0.8	5.4	5.4	0.78164	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.069357	0.56097	D	0.000025	T	0.70159	0.3192	H	0.94886	3.595	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.77950	-0.2395	10	0.87932	D	0	.	10.1635	0.42866	0.0905:0.0:0.9095:0.0	.	224	P01375	TNFA_HUMAN	R	224	ENSP00000398698:G224R	ENSP00000398698:G224R	G	+	1	0	TNF	31653261	1.000000	0.71417	0.986000	0.45419	0.846000	0.48090	5.459000	0.66685	2.537000	0.85549	0.561000	0.74099	GGG		0.567	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2			27	43	27	43
KIF25	3834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	168430294	168430294	+	Missense_Mutation	SNP	G	G	A	rs150821798	byFrequency	TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:168430294G>A	ENST00000443060.2	+	3	420	c.29G>A	c.(28-30)cGt>cAt	p.R10H	KIF25_ENST00000351261.3_Missense_Mutation_p.R10H|KIF25_ENST00000354419.2_Missense_Mutation_p.R10H			Q9UIL4	KIF25_HUMAN	kinesin family member 25	10	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CAGCTTCAGCGTGAGAAGCAG	0.632																																																0								G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	98.0	99.0		29,29	-0.6	0.0	6	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KIF25	NM_005355.3,NM_030615.2	29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	10/333,10/385	168430294	2,13004	2203	4300	6503	SO:0001583	missense	3834			AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.29G>A	6.37:g.168430294G>A	ENSP00000388878:p.Arg10His		O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	g	0.031	-1.333376	0.01298	2.27E-4	1.16E-4	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.74002	-0.8;-0.8;-0.01	0.658	-0.592	0.11671	Kinesin, motor domain (1);	10.352100	0.01222	N	0.008123	T	0.30665	0.0772	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.03483	-1.1032	8	.	.	.	.	.	.	.	.	10;10	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	H	10	ENSP00000388878:R10H;ENSP00000346401:R10H;ENSP00000252688:R10H	.	R	+	2	0	KIF25	168173143	0.005000	0.15991	0.000000	0.03702	0.005000	0.04900	-1.074000	0.03427	-1.024000	0.03338	-1.021000	0.02439	CGT		0.632	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			46	108	46	108
MED12	9968	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	70346299	70346299	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chrX:70346299C>G	ENST00000374080.3	+	19	2682	c.2650C>G	c.(2650-2652)Ctc>Gtc	p.L884V	MED12_ENST00000333646.6_Missense_Mutation_p.L884V|MED12_ENST00000374102.1_Missense_Mutation_p.L884V|MED12_ENST00000462984.1_3'UTR			Q93074	MED12_HUMAN	mediator complex subunit 12	884					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAATATTCACTCAGCATCAG	0.532			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													166.0	154.0	158.0					X																	70346299		2121	4203	6324	SO:0001583	missense	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2650C>G	X.37:g.70346299C>G	ENSP00000363193:p.Leu884Val		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	16.75	3.209933	0.58343	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.88738	0.6518	M	0.68593	2.085	0.53688	D	0.999975	D;D;D;D	0.69078	0.997;0.99;0.995;0.995	D;P;D;D	0.77004	0.989;0.852;0.92;0.975	D	0.89196	0.3554	10	0.66056	D	0.02	-13.5825	10.7464	0.46183	0.0:0.9108:0.0:0.0892	.	884;731;884;884	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	V	884;884;884;884;852	ENSP00000333125:L884V;ENSP00000363215:L884V;ENSP00000363193:L884V;ENSP00000414203:L852V	ENSP00000333125:L884V	L	+	1	0	MED12	70263024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.338000	0.59316	2.217000	0.71921	0.529000	0.55759	CTC		0.532	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		44	147	44	147
ZMYM3	9203	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	70463798	70463798	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chrX:70463798C>T	ENST00000353904.2	-	21	3500	c.3313G>A	c.(3313-3315)Gcc>Acc	p.A1105T	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Missense_Mutation_p.A1093T|ZMYM3_ENST00000314425.5_Missense_Mutation_p.A1105T|ZMYM3_ENST00000373988.1_Missense_Mutation_p.A1107T|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A1100T	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1105					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCTGAGCAGGCGAGAATATCC	0.458																																																0													164.0	112.0	129.0					X																	70463798		2203	4300	6503	SO:0001583	missense	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3313G>A	X.37:g.70463798C>T	ENSP00000343909:p.Ala1105Thr		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.165848	0.78339	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.44482	1.51;0.92;1.51;1.51;1.52	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000002	T	0.39410	0.1077	N	0.22421	0.69	0.36742	D	0.882266	P;P	0.51240	0.943;0.905	P;B	0.48166	0.569;0.365	T	0.46233	-0.9206	10	0.42905	T	0.14	-12.5039	17.5932	0.88003	0.0:1.0:0.0:0.0	.	1093;1105	Q14202-2;Q14202	.;ZMYM3_HUMAN	T	1105;1093;1105;1100;1107	ENSP00000322845:A1105T;ENSP00000363110:A1093T;ENSP00000343909:A1105T;ENSP00000363096:A1100T;ENSP00000363100:A1107T	ENSP00000322845:A1105T	A	-	1	0	ZMYM3	70380523	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.568000	0.45965	2.339000	0.79563	0.529000	0.55759	GCC		0.458	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		34	39	34	39
PLEKHG6	55200	broad.mit.edu;ucsc.edu	37	12	6424735	6424735	+	Missense_Mutation	SNP	C	C	T	rs199975133		TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr12:6424735C>T	ENST00000396988.3	+	5	705	c.475C>T	c.(475-477)Ctc>Ttc	p.L159F	PLEKHG6_ENST00000536531.1_Missense_Mutation_p.L159F|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.L159F|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.L127F	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	159						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GAGCCAGGAGCTCTGCCACCA	0.557																																																0													43.0	45.0	44.0					12																	6424735		2203	4300	6503	SO:0001583	missense	55200			AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.475C>T	12.37:g.6424735C>T	ENSP00000380185:p.Leu159Phe		Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	C	2.979	-0.210747	0.06140	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	4.78	1.51	0.23008	Dbl homology (DH) domain (2);	0.453160	0.20455	N	0.092008	T	0.38506	0.1043	N	0.14661	0.345	0.09310	N	0.999998	B;B;B	0.18461	0.016;0.016;0.028	B;B;B	0.17433	0.018;0.018;0.018	T	0.13548	-1.0505	10	0.09590	T	0.72	-17.5483	3.5186	0.07734	0.0:0.5397:0.2137:0.2466	.	127;159;159	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	F	159;159;159;127	ENSP00000011684:L159F;ENSP00000442836:L159F;ENSP00000380185:L159F;ENSP00000393194:L127F	ENSP00000011684:L159F	L	+	1	0	PLEKHG6	6294996	0.734000	0.28142	0.068000	0.19968	0.981000	0.71138	0.555000	0.23422	0.529000	0.28599	0.561000	0.74099	CTC		0.557	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		14	52	14	52
CCNA1	8900	broad.mit.edu;hgsc.bcm.edu	37	13	37012005	37012006	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr13:37012005_37012006insA	ENST00000255465.4	+	3	801_802	c.537_538insA	c.(538-540)aacfs	p.N180fs	CCNA1_ENST00000440264.1_Frame_Shift_Ins_p.N136fs|CCNA1_ENST00000449823.1_Frame_Shift_Ins_p.N136fs|CCNA1_ENST00000418263.1_Frame_Shift_Ins_p.N179fs			P78396	CCNA1_HUMAN	cyclin A1	180					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TGCTGGATTTCAACACAGGTAA	0.47																																																0																																										SO:0001589	frameshift_variant	8900			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.539dupA	13.37:g.37012007_37012007dupA	ENSP00000255465:p.Asn180fs		B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Frame_Shift_Ins	INS	ENST00000255465.4	37	CCDS9357.1																																																																																				0.470	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		42	85	42	85
CIC	23152	broad.mit.edu;hgsc.bcm.edu	37	19	42798816	42798817	+	Frame_Shift_Ins	INS	-	-	GCGG			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr19:42798816_42798817insGCGG	ENST00000575354.2	+	19	4428_4429	c.4388_4389insGCGG	c.(4387-4392)ctgcggfs	p.-1464fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.-2370fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.-1462fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TACTCCTCCCTGCGGCGCACCC	0.629			"""Mis, F, S"""		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	0																																										SO:0001589	frameshift_variant	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4389_4392dupGCGG	19.37:g.42798817_42798820dupGCGG	ENSP00000458663:p.Arg1464fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	CCDS12601.1																																																																																				0.629	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			22	30	22	30
