#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
GPR128	84873	broad.mit.edu	37	3	100362211	100362211	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr3:100362211C>T	ENST00000273352.3	+	7	1068	c.800C>T	c.(799-801)gCg>gTg	p.A267V	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Intron	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	267					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TCAGAAAATGCGGTGGGGCCT	0.403																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(799-801)gCg>gTg		G protein-coupled receptor 128							151.0	154.0	153.0					3																	100362211		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100362211C>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.800C>T	3.37:g.100362211C>T	ENSP00000273352:p.Ala267Val					GPR128_ENST00000475887.1_Intron	p.A267V	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			7	1068	+			267					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.800C>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	9.010	0.982339	0.18889	.	.	ENSG00000144820	ENST00000273352	T	0.39229	1.09	3.93	-0.181	0.13291	.	1.886950	0.02509	N	0.091316	T	0.17152	0.0412	N	0.08118	0	0.09310	N	1	B	0.30211	0.273	B	0.14578	0.011	T	0.06180	-1.0841	10	0.11182	T	0.66	.	1.0452	0.01568	0.1829:0.4275:0.1782:0.2115	.	267	Q96K78	GP128_HUMAN	V	267	ENSP00000273352:A267V	ENSP00000273352:A267V	A	+	2	0	GPR128	101844901	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.359000	0.07632	-0.154000	0.11118	-0.143000	0.13931	GCG		0.403	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			4	130	0	0	0	1	0	4	130				
CHD5	26038	broad.mit.edu	37	1	6202616	6202616	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr1:6202616C>T	ENST00000262450.3	-	14	2192	c.2093G>A	c.(2092-2094)gGc>gAc	p.G698D	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTGCAGTGTGCCGCCTGTGGA	0.642																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2092-2094)gGc>gAc		chromodomain helicase DNA binding protein 5							130.0	92.0	105.0					1																	6202616		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6202616C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2093G>A	1.37:g.6202616C>T	ENSP00000262450:p.Gly698Asp					CHD5_ENST00000378021.1_5'UTR	p.G698D	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	14	2192	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	698					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.2093G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154079	0.78114	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.91631	-2.88	3.43	3.43	0.39272	DEAD-like helicase (1);	0.000000	0.64402	D	0.000001	D	0.95579	0.8563	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95956	0.8958	10	0.59425	D	0.04	-25.1359	15.3972	0.74805	0.0:1.0:0.0:0.0	.	698	Q8TDI0	CHD5_HUMAN	D	698;214;106;106	ENSP00000262450:G698D	ENSP00000262450:G698D	G	-	2	0	CHD5	6125203	1.000000	0.71417	0.989000	0.46669	0.756000	0.42949	7.554000	0.82212	1.895000	0.54865	0.561000	0.74099	GGC		0.642	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		4	54	0	0	0	1	0	4	54				
DYRK2	8445	broad.mit.edu	37	12	68051587	68051587	+	Silent	SNP	G	G	A	rs374702499		TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr12:68051587G>A	ENST00000344096.3	+	3	1313	c.900G>A	c.(898-900)acG>acA	p.T300T	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Silent_p.T227T	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TCTGCATGACGTTTGAGCTGC	0.478																																						ENST00000344096.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(898-900)acG>acA		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2		G	,	1,4405	2.1+/-5.4	0,1,2202	158.0	152.0	154.0		681,900	-0.5	1.0	12		154	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DYRK2	NM_003583.3,NM_006482.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	227/529,300/602	68051587	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8445				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:68051587G>A	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.900G>A	12.37:g.68051587G>A						DYRK2_ENST00000393555.3_Silent_p.T227T	p.T300T	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	3	1313	+			300			Protein kinase.		B2R9V9|Q9BRB5	Silent	SNP	ENST00000344096.3	37	c.900G>A	CCDS8978.1																																																																																				0.478	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			4	159	0	0	0	1	0	4	159				
GPC5	2262	broad.mit.edu	37	13	92346010	92346010	+	Silent	SNP	T	T	C			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr13:92346010T>C	ENST00000377067.3	+	3	1267	c.895T>C	c.(895-897)Ttg>Ctg	p.L299L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	299					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TATCCGGTCGTTGGAAGAACT	0.502																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(895-897)Ttg>Ctg		glypican 5							138.0	126.0	130.0					13																	92346010		2203	4300	6503	SO:0001819	synonymous_variant	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92346010T>C	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.895T>C	13.37:g.92346010T>C							p.L299L	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			3	1267	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	299					B2R726|O60436|Q9BX27	Silent	SNP	ENST00000377067.3	37	c.895T>C	CCDS9468.1																																																																																				0.502	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		11	77	0	0	0	1	0	11	77				
COL6A6	131873	broad.mit.edu	37	3	130282279	130282279	+	Silent	SNP	G	G	A			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr3:130282279G>A	ENST00000358511.6	+	2	463	c.432G>A	c.(430-432)gaG>gaA	p.E144E	COL6A6_ENST00000453409.2_Silent_p.E144E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	144	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTGAGTCTGAGGATAATGTGG	0.498																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(430-432)gaG>gaA		collagen, type VI, alpha 6							48.0	49.0	48.0					3																	130282279		1904	4123	6027	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130282279G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.432G>A	3.37:g.130282279G>A						COL6A6_ENST00000453409.2_Silent_p.E144E	p.E144E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			2	463	+			144			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.432G>A	CCDS46911.1																																																																																				0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		18	10	0	0	0	1	0	18	10				
GON4L	54856	broad.mit.edu	37	1	155723052	155723052	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr1:155723052C>A	ENST00000368331.1	-	29	5833	c.5785G>T	c.(5785-5787)Gag>Tag	p.E1929*	GON4L_ENST00000437809.1_Nonsense_Mutation_p.E1929*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.E1929*	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1929					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGGGTGGCCTCAGTGCTCTCC	0.587																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(5785-5787)Gag>Tag		gon-4-like (C. elegans)							94.0	104.0	101.0					1																	155723052		2073	4205	6278	SO:0001587	stop_gained	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155723052C>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.5785G>T	1.37:g.155723052C>A	ENSP00000357315:p.Glu1929*					GON4L_ENST00000368331.1_Nonsense_Mutation_p.E1929*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.E1929*	p.E1929*			Q3T8J9	GON4L_HUMAN			29	5907	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1929					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Nonsense_Mutation	SNP	ENST00000368331.1	37	c.5785G>T		.	.	.	.	.	.	.	.	.	.	C	45	11.653717	0.99587	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	.	.	.	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	15.8784	0.79182	0.0:1.0:0.0:0.0	.	.	.	.	X	1929	.	ENSP00000271883:E1929X	E	-	1	0	GON4L	153989676	0.689000	0.27690	0.538000	0.28064	0.358000	0.29455	4.216000	0.58540	2.579000	0.87056	0.555000	0.69702	GAG		0.587	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		11	60	1	0	3.07112e-06	1	3.07112e-06	11	60				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			4	50	0	0	0	1	0	4	50				
ATP6V1G3	127124	broad.mit.edu	37	1	198498248	198498248	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr1:198498248A>G	ENST00000367382.1	-	2	230	c.146T>C	c.(145-147)aTg>aCg	p.M49T	ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.M55T|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.M55T|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.M49T			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	49					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						ATCTCTCTGCATTCTGTACTG	0.313																																						ENST00000367381.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						c.(163-165)aTg>aCg		ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3							151.0	144.0	147.0					1																	198498248		2202	4298	6500	SO:0001583	missense	127124				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding	g.chr1:198498248A>G	AY039760	CCDS1395.1, CCDS1396.1	1q32.2	2010-04-21	2006-01-13		ENSG00000151418	ENSG00000151418		"""ATPases / V-type"""	18265	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3"""			9442887	Standard	NM_133262		Approved	ATP6G3, Vma10	uc001gup.3	Q96LB4	OTTHUMG00000035661	ENST00000367382.1:c.146T>C	1.37:g.198498248A>G	ENSP00000356352:p.Met49Thr					ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.M49T|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.M49T|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.M55T	p.M55T			Q96LB4	VATG3_HUMAN			4	269	-			49					Q495K2|Q495K4|Q5T9L6	Missense_Mutation	SNP	ENST00000367382.1	37	c.164T>C	CCDS1395.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.080465	0.36662	.	.	ENSG00000151418	ENST00000367382;ENST00000367381;ENST00000281087;ENST00000489986	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.19	5.19	0.71726	.	0.156786	0.64402	D	0.000017	T	0.48003	0.1476	L	0.58302	1.8	0.32650	N	0.519472	P;P	0.51933	0.949;0.891	P;P	0.51701	0.677;0.598	T	0.54227	-0.8325	10	0.12103	T	0.63	-18.154	14.5254	0.67884	1.0:0.0:0.0:0.0	.	55;49	Q96LB4-4;Q96LB4	.;VATG3_HUMAN	T	49;55;49;55	ENSP00000356352:M49T;ENSP00000356351:M55T;ENSP00000281087:M49T;ENSP00000417171:M55T	ENSP00000281087:M49T	M	-	2	0	ATP6V1G3	196764871	1.000000	0.71417	0.935000	0.37517	0.859000	0.49053	7.077000	0.76814	2.087000	0.62958	0.533000	0.62120	ATG		0.313	ATP6V1G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086559.1	NM_133326		4	34	0	0	0	1	0	4	34				
SLC2A4	6517	broad.mit.edu	37	17	7189833	7189833	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr17:7189833G>A	ENST00000317370.8	+	11	1683	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q	RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	472					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CCTGAAACTCGAGGCCGGACG	0.537																																						ENST00000317370.8																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1414-1416)cGa>cAa		solute carrier family 2 (facilitated glucose transporter), member 4							282.0	283.0	283.0					17																	7189833		2203	4300	6503	SO:0001583	missense	6517				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding	g.chr17:7189833G>A	M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.1415G>A	17.37:g.7189833G>A	ENSP00000320935:p.Arg472Gln						p.R472Q	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN			11	1683	+			472					Q05BQ3|Q14CX2	Missense_Mutation	SNP	ENST00000317370.8	37	c.1415G>A	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813439	0.90790	.	.	ENSG00000181856	ENST00000317370	T	0.74106	-0.81	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000001	T	0.78742	0.4331	M	0.70903	2.155	0.80722	D	1	P	0.52692	0.955	P	0.47786	0.557	T	0.81911	-0.0716	10	0.72032	D	0.01	.	16.4157	0.83732	0.0:0.0:1.0:0.0	.	472	P14672	GTR4_HUMAN	Q	472	ENSP00000320935:R472Q	ENSP00000320935:R472Q	R	+	2	0	SLC2A4	7130557	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.241000	0.58707	2.826000	0.97356	0.655000	0.94253	CGA		0.537	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3			5	293	0	0	0	1	0	5	293				
MIF4GD	57409	broad.mit.edu	37	17	73266262	73266262	+	Silent	SNP	A	A	G			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr17:73266262A>G	ENST00000325102.8	-	2	139	c.15T>C	c.(13-15)agT>agC	p.S5S	MIF4GD_ENST00000577542.1_Silent_p.S5S|RP11-649A18.12_ENST00000585075.1_RNA|MIF4GD_ENST00000579119.1_Silent_p.S5S|RP11-649A18.12_ENST00000582668.1_RNA|MIF4GD_ENST00000245551.5_Silent_p.S5S|MIF4GD_ENST00000579297.1_Silent_p.S5S|MIF4GD_ENST00000580571.1_Silent_p.S5S|MIF4GD_ENST00000578305.1_Silent_p.S5S	NM_001242501.1	NP_001229430.1	A9UHW6	MI4GD_HUMAN	MIF4G domain containing	5	MIF4G.				regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			ACTCCTCTCTACTGGGCTCCC	0.587																																						ENST00000577542.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10						c.(13-15)agT>agC		MIF4G domain containing							133.0	133.0	133.0					17																	73266262		2203	4300	6503	SO:0001819	synonymous_variant	57409				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding	g.chr17:73266262A>G	CR605810	CCDS11719.1, CCDS56044.1, CCDS58598.1	17q25.1	2005-12-15		2005-12-15					24030	protein-coding gene	gene with protein product		612072		MIFD			Standard	NM_001242498		Approved	AD023, MGC45027	uc002jnq.3	A9UHW6		ENST00000325102.8:c.15T>C	17.37:g.73266262A>G						MIF4GD_ENST00000580571.1_Silent_p.S5S|MIF4GD_ENST00000245551.5_Silent_p.S5S|MIF4GD_ENST00000325102.8_Silent_p.S5S|MIF4GD_ENST00000579297.1_Silent_p.S5S|MIF4GD_ENST00000579119.1_Silent_p.S5S|MIF4GD_ENST00000578305.1_Silent_p.S5S	p.S5S			A9UHW6	MI4GD_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		2	277	-	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		5			MIF4G.		B4DUM7|Q8N4Q5|Q9HBL5	Silent	SNP	ENST00000325102.8	37	c.15T>C	CCDS56044.1																																																																																				0.587	MIF4GD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446671.1	NM_020679		4	220	0	0	0	1	0	4	220				
ALDH7A1	501	broad.mit.edu	37	5	125903982	125903982	+	Silent	SNP	T	T	C			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr5:125903982T>C	ENST00000409134.3	-	9	1059	c.840A>G	c.(838-840)aaA>aaG	p.K280K	ALDH7A1_ENST00000447989.2_Silent_p.K307K|ALDH7A1_ENST00000553117.1_Silent_p.K280K|ALDH7A1_ENST00000413020.1_5'UTR	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	280					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		GGCCCACCTGTTTTCCCACCT	0.488																																						ENST00000409134.3																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(838-840)aaA>aaG		aldehyde dehydrogenase 7 family, member A1	NADH(DB00157)|Pyridoxine(DB00165)						173.0	158.0	163.0					5																	125903982		2203	4300	6503	SO:0001819	synonymous_variant	501				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	g.chr5:125903982T>C	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"""Aldehyde dehydrogenases"""	877	protein-coding gene	gene with protein product	"""antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase"""	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.840A>G	5.37:g.125903982T>C						ALDH7A1_ENST00000553117.1_Silent_p.K280K|ALDH7A1_ENST00000447989.2_Silent_p.K307K|ALDH7A1_ENST00000413020.1_5'UTR	p.K280K	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	9	1059	-		all_cancers(142;0.24)|Prostate(80;0.081)	280					B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Silent	SNP	ENST00000409134.3	37	c.840A>G	CCDS4137.2																																																																																				0.488	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		30	72	0	0	0	1	0	30	72				
LPL	4023	broad.mit.edu	37	8	19811698	19811698	+	Silent	SNP	A	A	G			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr8:19811698A>G	ENST00000311322.8	+	5	1079	c.609A>G	c.(607-609)gcA>gcG	p.A203A		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	203			A -> T (in LPL deficiency; Bethesda; loss of activity and abnormal heparin binding). {ECO:0000269|PubMed:2110364}.		chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	CTGATGATGCAGATTTTGTAG	0.478																																						ENST00000311322.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(607-609)gcA>gcG		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						136.0	132.0	134.0					8																	19811698		2203	4300	6503	SO:0001819	synonymous_variant	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19811698A>G		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.609A>G	8.37:g.19811698A>G							p.A203A	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	5	1079	+			203		A -> T (in LPL deficiency; Bethesda; loss of activity and abnormal heparin binding).			B2R5T9|Q16282|Q16283|Q96FC4	Silent	SNP	ENST00000311322.8	37	c.609A>G	CCDS6012.1																																																																																				0.478	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			11	76	0	0	0	1	0	11	76				
ZNF776	284309	broad.mit.edu	37	19	58265270	58265270	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr19:58265270C>T	ENST00000317178.5	+	3	1035	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C		NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TCAGGGAGTTCGCACTGGAAA	0.423																																						ENST00000317178.5																			0				cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(772-774)Cgc>Tgc		zinc finger protein 776							76.0	73.0	74.0					19																	58265270		2203	4300	6503	SO:0001583	missense	284309							g.chr19:58265270C>T	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.772C>T	19.37:g.58265270C>T	ENSP00000321812:p.Arg258Cys						p.R258C	NM_173632.3	NP_775903.3				UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	3	1035	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)						Q6ZS36|Q8N968	Missense_Mutation	SNP	ENST00000317178.5	37	c.772C>T	CCDS12962.2	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024724	0.35701	.	.	ENSG00000152443	ENST00000317178	T	0.15256	2.44	1.79	1.79	0.24919	Zinc finger, C2H2 (1);	.	.	.	.	T	0.08223	0.0205	N	0.20685	0.6	0.80722	D	1	B;P	0.38711	0.332;0.643	B;B	0.12837	0.008;0.008	T	0.27297	-1.0078	9	0.87932	D	0	.	10.5453	0.45056	0.0:1.0:0.0:0.0	.	258;258	Q68DI1;B4DSC6	ZN776_HUMAN;.	C	258	ENSP00000321812:R258C	ENSP00000321812:R258C	R	+	1	0	ZNF776	62957082	0.011000	0.17503	0.013000	0.15412	0.172000	0.22775	1.968000	0.40500	0.992000	0.38840	0.305000	0.20034	CGC		0.423	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		6	61	0	0	0	1	0	6	61				
TUBA8	51807	broad.mit.edu	37	22	18609712	18609712	+	Missense_Mutation	SNP	G	G	T	rs151102020	byFrequency	TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr22:18609712G>T	ENST00000330423.3	+	4	1040	c.967G>T	c.(967-969)Gtg>Ttg	p.V323L	TUBA8_ENST00000316027.6_Missense_Mutation_p.V257L	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	323					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CCGGGGCGACGTGGTGCCCAA	0.557																																						ENST00000330423.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(967-969)Gtg>Ttg		tubulin, alpha 8							95.0	79.0	85.0					22																	18609712		2203	4300	6503	SO:0001583	missense	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18609712G>T	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.967G>T	22.37:g.18609712G>T	ENSP00000333326:p.Val323Leu					TUBA8_ENST00000316027.6_Missense_Mutation_p.V257L	p.V323L	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN			4	1040	+			323					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	c.967G>T	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	.	19.95	3.922283	0.73213	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.85411	-1.98;-1.98;-1.98	5.67	5.67	0.87782	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.057042	0.64402	D	0.000001	D	0.93638	0.7968	M	0.87269	2.87	0.80722	D	1	D;D;P	0.89917	1.0;0.991;0.602	D;D;P	0.97110	1.0;0.959;0.751	D	0.94010	0.7283	10	0.87932	D	0	.	19.1191	0.93355	0.0:0.0:1.0:0.0	.	257;347;323	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	L	257;323;347	ENSP00000318575:V257L;ENSP00000333326:V323L;ENSP00000412646:V347L	ENSP00000318575:V257L	V	+	1	0	TUBA8	16989712	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.813000	0.99286	2.837000	0.97791	0.655000	0.94253	GTG		0.557	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		22	78	1	0	1.40151e-16	1	1.44984e-16	22	78				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						ENST00000546471.1																			0																																																			730092							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A														0	1601	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		6	46	0	0	0	1	0	6	46				
CENPB	1059	broad.mit.edu	37	20	3765453	3765453	+	Missense_Mutation	SNP	A	A	T			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr20:3765453A>T	ENST00000379751.4	-	1	1884	c.1678T>A	c.(1678-1680)Tcc>Acc	p.S560T	CDC25B_ENST00000344256.6_5'Flank|CDC25B_ENST00000379598.5_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	560	Homodimerization.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						ATGGGGAAGGAGGTCAGGTAC	0.562																																						ENST00000379751.4																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(1678-1680)Tcc>Acc		centromere protein B, 80kDa							179.0	141.0	154.0					20																	3765453		2203	4300	6503	SO:0001583	missense	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3765453A>T	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.1678T>A	20.37:g.3765453A>T	ENSP00000369075:p.Ser560Thr						p.S560T	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN			1	1884	-			560					Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	c.1678T>A	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.495859	0.44352	.	.	ENSG00000125817	ENST00000379751;ENST00000536335	T	0.47869	0.83	5.15	5.15	0.70609	Centromere protein Cenp-B, dimerisation domain (1);	0.000000	0.40469	U	0.001098	T	0.53834	0.1821	L	0.27053	0.805	0.29827	N	0.830332	D	0.57257	0.979	D	0.74023	0.982	T	0.55611	-0.8114	10	0.72032	D	0.01	-10.5159	11.3722	0.49707	1.0:0.0:0.0:0.0	.	560	P07199	CENPB_HUMAN	T	560;99	ENSP00000369075:S560T	ENSP00000369075:S560T	S	-	1	0	CENPB	3713453	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.975000	0.49281	1.940000	0.56252	0.533000	0.62120	TCC		0.562	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		5	37	0	0	0	1	0	5	37				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240661	39240661	+	Missense_Mutation	SNP	C	C	G	rs11650484	byFrequency	TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr17:39240661C>G	ENST00000391417.4	+	1	203	c.203C>G	c.(202-204)aCc>aGc	p.T68S		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	68	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		T -> S. {ECO:0000269|PubMed:11279113, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGTCGCCCCACCTGCTGTGAG	0.657													g|||	3229	0.644768	0.9433	0.634	5008	,	,		18672	0.4177		0.6203	False		,,,				2504	0.5082					ENST00000391417.4																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(202-204)aCc>aGc		keratin associated protein 4-7							17.0	30.0	26.0					17																	39240661		691	1591	2282	SO:0001583	missense	100132476							g.chr17:39240661C>G	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.203C>G	17.37:g.39240661C>G	ENSP00000375236:p.Thr68Ser						p.T68S	NM_033061.3	NP_149050.3					1	203	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.203C>G	CCDS45673.1	1292|1292	0.5915750915750916|0.5915750915750916	426|426	0.8658536585365854|0.8658536585365854	216|216	0.5966850828729282|0.5966850828729282	219|219	0.38286713286713286|0.38286713286713286	431|431	0.5686015831134564|0.5686015831134564	g|.	0.004|0.004	-2.356434|-2.356434	0.00217|0.00217	.|.	.|.	ENSG00000212722|ENSG00000240871	ENST00000377734|ENST00000391417	.|T	.|0.01215	.|5.16	3.78|3.78	-3.84|-3.84	0.04256|0.04256	.|.	.|4.898520	.|0.00659	.|N	.|0.000582	.|T	.|0.00012	.|0.0000	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	.|T	.|0.26710	.|-1.0095	.|8	.|0.02654	.|T	.|1	.|.	3.9478|3.9478	0.09355|0.09355	0.1799:0.497:0.1974:0.1257|0.1799:0.497:0.1974:0.1257	rs11650484|rs11650484	.|68	.|Q9BYR0	.|KRA47_HUMAN	.|S	-1|68	.|ENSP00000375236:T68S	.|ENSP00000375236:T68S	.|T	+|+	.|2	.|0	KRTAP4-9|KRTAP4-7	36494187|36494187	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.039000|0.039000	0.13416|0.13416	-2.567000|-2.567000	0.00916|0.00916	-0.884000|-0.884000	0.03976|0.03976	-0.383000|-0.383000	0.06682|0.06682	.|ACC		0.657	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			3	70	0	0	0	1	0	3	70				
KDM4B	23030	broad.mit.edu	37	19	5144146	5144146	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr19:5144146A>G	ENST00000159111.4	+	19	2937	c.2719A>G	c.(2719-2721)Aag>Gag	p.K907E	KDM4B_ENST00000536461.1_Missense_Mutation_p.K941E	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	907					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTCAAGCACAAGTCGGGGGG	0.711																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(2719-2721)Aag>Gag		lysine (K)-specific demethylase 4B							44.0	47.0	46.0					19																	5144146		2203	4299	6502	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5144146A>G	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2719A>G	19.37:g.5144146A>G	ENSP00000159111:p.Lys907Glu					KDM4B_ENST00000536461.1_Missense_Mutation_p.K941E	p.K907E	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			19	2937	+			907					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.2719A>G	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884118	0.51908	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.18960	2.18;2.18	4.28	2.04	0.26737	Zinc finger, PHD-type (1);	0.384971	0.17999	N	0.154948	T	0.14056	0.0340	L	0.36672	1.1	0.26372	N	0.97687	B;P	0.43788	0.122;0.817	B;B	0.38500	0.059;0.275	T	0.10965	-1.0607	10	0.42905	T	0.14	-11.8612	6.2208	0.20681	0.6133:0.3051:0.0816:0.0	.	941;907	F5GX28;O94953	.;KDM4B_HUMAN	E	907;941	ENSP00000159111:K907E;ENSP00000440495:K941E	ENSP00000159111:K907E	K	+	1	0	KDM4B	5095146	1.000000	0.71417	0.570000	0.28473	0.560000	0.35617	3.929000	0.56514	0.107000	0.17824	0.459000	0.35465	AAG		0.711	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		22	37	0	0	0	1	0	22	37				
ZFC3H1	196441	broad.mit.edu	37	12	72057258	72057258	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr12:72057258T>C	ENST00000378743.3	-	1	491	c.133A>G	c.(133-135)Agc>Ggc	p.S45G	THAP2_ENST00000547843.1_5'Flank|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S45G|ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S45G	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCCGCCGCTGCTGCTGCTG	0.637											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(133-135)Agc>Ggc		zinc finger, C3H1-type containing							52.0	64.0	60.0					12																	72057258		2075	4216	6291	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057258T>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.133A>G	12.37:g.72057258T>C	ENSP00000368017:p.Ser45Gly		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S45G|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S45G	p.S45G	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	491	-			45			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.133A>G	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	8.666	0.901632	0.17760	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.33216	1.42	4.99	3.84	0.44239	.	0.217636	0.37012	N	0.002291	T	0.14614	0.0353	N	0.14661	0.345	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.08046	-1.0741	10	0.10636	T	0.68	.	7.4373	0.27162	0.0:0.0974:0.0:0.9026	.	45;45;45	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	G	45	ENSP00000368017:S45G	ENSP00000368017:S45G	S	-	1	0	ZFC3H1	70343525	0.460000	0.25776	0.997000	0.53966	0.947000	0.59692	1.015000	0.29963	0.926000	0.37118	0.455000	0.32223	AGC		0.637	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		4	132	0	0	0	1	0	4	132				
JADE1	79960	broad.mit.edu	37	4	129778604	129778604	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr4:129778604A>G	ENST00000226319.6	+	8	1256	c.976A>G	c.(976-978)Ata>Gta	p.I326V	PHF17_ENST00000452328.2_Missense_Mutation_p.I314V|PHF17_ENST00000511647.1_Missense_Mutation_p.I326V|PHF17_ENST00000413543.2_Missense_Mutation_p.I326V|PHF17_ENST00000512960.1_Missense_Mutation_p.I326V	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGGGGCCTCTATACAGGTAAT	0.537																																						ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(976-978)Ata>Gta									151.0	157.0	155.0					4																	129778604		2203	4300	6503	SO:0001583	missense	79960				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129778604A>G																												ENST00000226319.6:c.976A>G	4.37:g.129778604A>G	ENSP00000226319:p.Ile326Val					PHF17_ENST00000512960.1_Missense_Mutation_p.I326V|PHF17_ENST00000452328.2_Missense_Mutation_p.I314V|PHF17_ENST00000413543.2_Missense_Mutation_p.I326V|PHF17_ENST00000511647.1_Missense_Mutation_p.I326V	p.I326V	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			8	1256	+			326						Missense_Mutation	SNP	ENST00000226319.6	37	c.976A>G	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.147745	0.57151	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	4.47	4.47	0.54385	Zinc finger, PHD-type (1);	0.094910	0.64402	D	0.000001	T	0.68165	0.2971	L	0.46670	1.46	0.80722	D	1	B;P;B	0.38250	0.389;0.624;0.234	P;P;B	0.52758	0.506;0.708;0.296	T	0.65857	-0.6066	9	.	.	.	.	14.2062	0.65737	1.0:0.0:0.0:0.0	.	314;326;326	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	V	326;326;314;326;326;326	ENSP00000226319:I326V;ENSP00000423737:I326V;ENSP00000388015:I314V;ENSP00000425730:I326V;ENSP00000404211:I326V	.	I	+	1	0	PHF17	129998054	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	8.329000	0.90017	2.002000	0.58637	0.533000	0.62120	ATA		0.537	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			66	107	0	0	0	1	0	66	107				
MLLT6	4302	broad.mit.edu	37	17	36871916	36871916	+	Missense_Mutation	SNP	A	A	T			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr17:36871916A>T	ENST00000325718.7	+	9	962	c.871A>T	c.(871-873)Acc>Tcc	p.T291S	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	291					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CACGCAGGAGACCTCTGAGAG	0.562			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(871-873)Acc>Tcc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							106.0	96.0	99.0					17																	36871916		2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36871916A>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.871A>T	17.37:g.36871916A>T	ENSP00000316426:p.Thr291Ser					CTB-58E17.9_ENST00000579499.1_RNA	p.T291S	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			9	962	+	Breast(7;4.43e-21)		291					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.871A>T	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610474	0.46527	.	.	ENSG00000108292	ENST00000325718	T	0.80909	-1.43	5.43	1.8	0.24995	.	1.105820	0.06629	N	0.758858	T	0.58047	0.2095	N	0.05534	-0.03	0.26995	N	0.965047	B	0.26002	0.139	B	0.21917	0.037	T	0.50329	-0.8841	10	0.06365	T	0.9	.	6.5452	0.22402	0.5946:0.3188:0.0866:0.0	.	291	P55198	AF17_HUMAN	S	291	ENSP00000316426:T291S	ENSP00000316426:T291S	T	+	1	0	MLLT6	34125442	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.146000	0.31589	0.895000	0.36342	-0.461000	0.05368	ACC		0.562	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		3	25	0	0	0	1	0	3	25				
NOA1	84273	broad.mit.edu	37	4	57832876	57832876	+	Silent	SNP	G	G	A			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr4:57832876G>A	ENST00000264230.4	-	5	2911	c.1674C>T	c.(1672-1674)gtC>gtT	p.V558V		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	558					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										TGGAAGCCACGACTGTAAACC	0.453																																						ENST00000264230.4																			0											c.(1672-1674)gtC>gtT		nitric oxide associated 1							158.0	137.0	144.0					4																	57832876		2203	4300	6503	SO:0001819	synonymous_variant	84273						GTP binding	g.chr4:57832876G>A	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1674C>T	4.37:g.57832876G>A							p.V558V	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			5	2911	-			558					Q8N7L6|Q9BSQ9	Silent	SNP	ENST00000264230.4	37	c.1674C>T	CCDS3510.1																																																																																				0.453	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		26	41	0	0	0	1	0	26	41				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			80862							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	52	0	0	0	1	0	4	52				
CDC20B	166979	broad.mit.edu	37	5	54420759	54420759	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr5:54420759A>G	ENST00000381375.2	-	9	1232	c.1087T>C	c.(1087-1089)Tgg>Cgg	p.W363R	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Missense_Mutation_p.W363R|CDC20B_ENST00000296733.1_Missense_Mutation_p.W363R			Q86Y33	CD20B_HUMAN	cell division cycle 20B	363										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TCCGGTGACCACTTCAGAGCA	0.572																																						ENST00000296733.1																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(1087-1089)Tgg>Cgg		cell division cycle 20B							137.0	119.0	125.0					5																	54420759		2203	4300	6503	SO:0001583	missense	166979							g.chr5:54420759A>G	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1087T>C	5.37:g.54420759A>G	ENSP00000370781:p.Trp363Arg					CDC20B_ENST00000322374.6_Missense_Mutation_p.W363R|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000381375.2_Missense_Mutation_p.W363R	p.W363R	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		9	1261	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	363					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	c.1087T>C	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229660	0.79688	.	.	ENSG00000164287	ENST00000296733;ENST00000381375;ENST00000322374	T;T;T	0.66815	-0.23;-0.23;-0.23	4.66	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.39834	N	0.001254	D	0.85575	0.5728	M	0.93550	3.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.89426	0.3713	10	0.87932	D	0	-26.1302	13.9319	0.64001	1.0:0.0:0.0:0.0	.	363;363;363	Q86Y33-3;Q86Y33;Q86Y33-2	.;CD20B_HUMAN;.	R	363	ENSP00000296733:W363R;ENSP00000370781:W363R;ENSP00000315720:W363R	ENSP00000296733:W363R	W	-	1	0	CDC20B	54456516	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.259000	0.78381	1.947000	0.56498	0.528000	0.53228	TGG		0.572	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		6	114	0	0	0	1	0	6	114				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000413702.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		4	99	0	0	0	1	0	4	99				
SREBF2	6721	broad.mit.edu	37	22	42262949	42262951	+	In_Frame_Del	DEL	GCA	GCA	-	rs143615881		TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr22:42262949_42262951delGCA	ENST00000361204.4	+	2	369_371	c.203_205delGCA	c.(202-207)ggcagc>ggc	p.S74del		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	74	Gly/Pro/Ser-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcagcagtggcagcagcagcag	0.567																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(202-207)ggc>g		sterol regulatory element binding transcription factor 2																																				SO:0001651	inframe_deletion	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42262949_42262951delGCA	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.203_205delGCA	22.37:g.42262958_42262960delGCA	ENSP00000354476:p.Ser74del						p.GS68del	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			2	369_371	+			68			Gly/Pro/Ser-rich.		Q05BD5|Q6GTH7|Q86V36|Q9UH04	In_Frame_Del	DEL	ENST00000361204.4	37	c.203_205delGCA	CCDS14023.1																																																																																				0.567	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		7	118						7	118	---	---	---	---
