#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
RPS6KA5	9252	broad.mit.edu	37	14	91338482	91338482	+	Missense_Mutation	SNP	G	G	T			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr14:91338482G>T	ENST00000261991.3	-	17	2518	c.2345C>A	c.(2344-2346)cCc>cAc	p.P782H	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.P703H	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	782					axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AGGATTGCTGGGCTGCAGTGT	0.522																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(2344-2346)cCc>cAc		ribosomal protein S6 kinase, 90kDa, polypeptide 5							135.0	121.0	126.0					14																	91338482		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91338482G>T	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.2345C>A	14.37:g.91338482G>T	ENSP00000261991:p.Pro782His					RPS6KA5_ENST00000536315.2_Missense_Mutation_p.P703H	p.P782H	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	17	2518	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	782					O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.2345C>A	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891211	0.72524	.	.	ENSG00000100784	ENST00000261991;ENST00000536315	T;T	0.68331	-0.32;-0.31	5.25	5.25	0.73442	Protein kinase-like domain (1);	0.059810	0.64402	D	0.000002	T	0.70116	0.3187	L	0.33485	1.01	0.80722	D	1	D	0.63046	0.992	P	0.54401	0.751	T	0.73949	-0.3821	10	0.87932	D	0	.	19.2225	0.93803	0.0:0.0:1.0:0.0	.	782	O75582	KS6A5_HUMAN	H	782;703	ENSP00000261991:P782H;ENSP00000442803:P703H	ENSP00000261991:P782H	P	-	2	0	RPS6KA5	90408235	1.000000	0.71417	0.966000	0.40874	0.476000	0.33039	6.278000	0.72614	2.611000	0.88343	0.655000	0.94253	CCC		0.522	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		80	39	1	0	5.72124e-26	1	6.02236e-26	80	39				
PKN1	5585	broad.mit.edu	37	19	14574926	14574926	+	Silent	SNP	G	G	A			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr19:14574926G>A	ENST00000242783.6	+	12	1857	c.1692G>A	c.(1690-1692)caG>caA	p.Q564Q	PKN1_ENST00000342216.4_Silent_p.Q570Q	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	564					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCTCACCTCAGAAGAGCTCGC	0.647																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1690-1692)caG>caA		protein kinase N1							69.0	73.0	71.0					19																	14574926		2037	4187	6224	SO:0001819	synonymous_variant	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14574926G>A	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1692G>A	19.37:g.14574926G>A						PKN1_ENST00000342216.4_Silent_p.Q570Q	p.Q564Q	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			12	1857	+			564					A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	c.1692G>A	CCDS42513.1																																																																																				0.647	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		49	57	0	0	0	1	0	49	57				
OLIG3	167826	broad.mit.edu	37	6	137814559	137814559	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr6:137814559G>A	ENST00000367734.2	-	1	972	c.749C>T	c.(748-750)cCg>cTg	p.P250L		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	250	Poly-Pro.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GGACAGGTGCGGCGGCGGCGG	0.716																																						ENST00000367734.2																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(748-750)cCg>cTg		oligodendrocyte transcription factor 3							6.0	7.0	7.0					6																	137814559		1959	3967	5926	SO:0001583	missense	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137814559G>A	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.749C>T	6.37:g.137814559G>A	ENSP00000356708:p.Pro250Leu						p.P250L	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	972	-	Breast(32;0.165)|Colorectal(23;0.24)		250			Poly-Pro.		Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	c.749C>T	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084303	0.76642	.	.	ENSG00000177468	ENST00000367734	D	0.99466	-5.95	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.98579	0.9525	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	P	0.56088	0.791	D	0.99568	1.0970	10	0.16420	T	0.52	-1.2297	18.5888	0.91200	0.0:0.0:1.0:0.0	.	250	Q7RTU3	OLIG3_HUMAN	L	250	ENSP00000356708:P250L	ENSP00000356708:P250L	P	-	2	0	OLIG3	137856252	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.042000	0.93793	2.619000	0.88677	0.650000	0.86243	CCG		0.716	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		7	6	0	0	0	1	0	7	6				
FDXR	2232	broad.mit.edu	37	17	72868221	72868221	+	Silent	SNP	G	G	A			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr17:72868221G>A	ENST00000293195.5	-	2	195	c.117C>T	c.(115-117)ccC>ccT	p.P39P	FDXR_ENST00000413947.2_Silent_p.P70P|FDXR_ENST00000581530.1_Silent_p.P39P|FDXR_ENST00000582944.1_Silent_p.P39P|FDXR_ENST00000420580.2_Silent_p.P39P|FDXR_ENST00000583917.1_Silent_p.P39P|FDXR_ENST00000442102.2_Silent_p.P39P|FDXR_ENST00000455107.2_5'UTR	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	39					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	CACAGATCTGGGGGGTCTTCT	0.547																																						ENST00000442102.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(115-117)ccC>ccT		ferredoxin reductase							49.0	49.0	49.0					17																	72868221		2203	4300	6503	SO:0001819	synonymous_variant	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72868221G>A	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.117C>T	17.37:g.72868221G>A						FDXR_ENST00000413947.2_Silent_p.P70P|FDXR_ENST00000420580.2_Silent_p.P39P|FDXR_ENST00000581530.1_Silent_p.P39P|FDXR_ENST00000293195.5_Silent_p.P39P|FDXR_ENST00000582944.1_Silent_p.P39P|FDXR_ENST00000583917.1_Silent_p.P39P|FDXR_ENST00000455107.2_5'UTR	p.P39P	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN			2	203	-	all_lung(278;0.172)|Lung NSC(278;0.207)		39					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Silent	SNP	ENST00000293195.5	37	c.117C>T	CCDS58593.1																																																																																				0.547	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		11	22	0	0	0	1	0	11	22				
HECTD1	25831	broad.mit.edu	37	14	31581747	31581747	+	Missense_Mutation	SNP	T	T	A			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr14:31581747T>A	ENST00000399332.1	-	35	6641	c.6153A>T	c.(6151-6153)gaA>gaT	p.E2051D	HECTD1_ENST00000553700.1_Missense_Mutation_p.E2051D	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2051	K-box.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTGCCAATGGTTCCTGCGAAT	0.378																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(6151-6153)gaA>gaT		HECT domain containing E3 ubiquitin protein ligase 1							54.0	52.0	52.0					14																	31581747		1892	4114	6006	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31581747T>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6153A>T	14.37:g.31581747T>A	ENSP00000382269:p.Glu2051Asp					HECTD1_ENST00000553700.1_Missense_Mutation_p.E2051D	p.E2051D	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	35	6641	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2051			K-box.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.6153A>T	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.745|4.745	0.138497|0.138497	0.09083|0.09083	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332|ENST00000554882	T;T|.	0.07216|.	3.21;3.21|.	5.74|5.74	-2.36|-2.36	0.06663|0.06663	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.33440|0.33440	0.0863|0.0863	N|N	0.11427|0.11427	0.14|0.14	0.52501|0.52501	D|D	0.999952|0.999952	P|.	0.52842|.	0.956|.	D|.	0.65010|.	0.931|.	T|T	0.07770|0.07770	-1.0755|-1.0755	10|5	0.02654|.	T|.	1|.	-16.0074|-16.0074	12.4911|12.4911	0.55901|0.55901	0.0:0.4458:0.0:0.5542|0.0:0.4458:0.0:0.5542	.|.	2051|.	Q9ULT8|.	HECD1_HUMAN|.	D|I	2051;2053;2051|417	ENSP00000450697:E2051D;ENSP00000382269:E2051D|.	ENSP00000261312:E2053D|.	E|N	-|-	3|2	2|0	HECTD1|HECTD1	30651498|30651498	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.678000|0.678000	0.39670|0.39670	0.747000|0.747000	0.26290|0.26290	-0.402000|-0.402000	0.07633|0.07633	0.460000|0.460000	0.39030|0.39030	GAA|AAC		0.378	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			36	36	0	0	0	1	0	36	36				
SLC35G3	146861	broad.mit.edu	37	17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C	rs375936006		TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	312	EamA 2.					integral component of membrane (GO:0016021)		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.A312G(4)	kidney(4)								c.(934-936)gCg>gGg		solute carrier family 35, member G3							142.0	127.0	132.0					17																	33520392		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520392G>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.935C>G	17.37:g.33520392G>C	ENSP00000297307:p.Ala312Gly						p.A312G	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1020	-			312			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.935C>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.804722	0.00611	.	.	ENSG00000164729	ENST00000297307	T	0.57273	0.41	.	.	.	.	0.000000	0.45126	N	0.000398	T	0.11067	0.0270	N	0.01048	-1.04	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	8	0.02654	T	1	-1.3046	.	.	.	.	312	Q8N808	S35G3_HUMAN	G	312	ENSP00000297307:A312G	ENSP00000297307:A312G	A	-	2	0	SLC35G3	30544505	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	1.924000	0.40065	-2.418000	0.00566	-2.366000	0.00237	GCG		0.567	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		5	138	0	0	0	1	0	5	138				
KRTAP4-11	653240	broad.mit.edu	37	17	39274214	39274214	+	Missense_Mutation	SNP	G	G	C			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr17:39274214G>C	ENST00000391413.2	-	1	392	c.354C>G	c.(352-354)agC>agG	p.S118R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	118	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gtctgcagcagctggacacac	0.652																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(352-354)agC>agG		keratin associated protein 4-11							4.0	8.0	7.0					17																	39274214		642	1521	2163	SO:0001583	missense	653240					keratin filament		g.chr17:39274214G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.354C>G	17.37:g.39274214G>C	ENSP00000375232:p.Ser118Arg						p.S118R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	392	-		Breast(137;0.000496)	118			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.354C>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	11.65	1.702454	0.30232	.	.	ENSG00000212721	ENST00000391413	T	0.01963	4.53	3.63	2.63	0.31362	.	.	.	.	.	T	0.05914	0.0154	M	0.92691	3.335	0.25757	N	0.984995	B	0.18166	0.026	B	0.19391	0.025	T	0.23013	-1.0200	9	0.37606	T	0.19	.	5.3088	0.15819	0.1185:0.2126:0.6689:0.0	.	118	Q9BYQ6	KR411_HUMAN	R	118	ENSP00000375232:S118R	ENSP00000375232:S118R	S	-	3	2	KRTAP4-11	36527740	0.000000	0.05858	0.722000	0.30670	0.015000	0.08874	0.147000	0.16202	0.630000	0.30394	-0.413000	0.06143	AGC		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			6	46	0	0	0	1	0	6	46				
BAG3	9531	broad.mit.edu	37	10	121436654	121436654	+	Missense_Mutation	SNP	G	G	A	rs144678100	byFrequency	TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr10:121436654G>A	ENST00000369085.3	+	4	1894	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	530					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GATGGGTGCCGTGGCAGCAGA	0.542																																						ENST00000369085.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1588-1590)Gtg>Atg		BCL2-associated athanogene 3		G	MET/VAL	0,4406		0,0,2203	87.0	86.0	87.0		1588	-10.7	0.0	10	dbSNP_134	87	4,8596	3.7+/-12.6	0,4,4296	yes	missense	BAG3	NM_004281.3	21	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	530/576	121436654	4,13002	2203	4300	6503	SO:0001583	missense	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121436654G>A	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.1588G>A	10.37:g.121436654G>A	ENSP00000358081:p.Val530Met						p.V530M	NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	4	1894	+		Lung NSC(174;0.109)|all_lung(145;0.142)	530					A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	c.1588G>A	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	G	5.217	0.225469	0.09916	0.0	4.65E-4	ENSG00000151929	ENST00000369085	T	0.76316	-1.01	5.35	-10.7	0.00240	.	1.752420	0.02182	N	0.060543	T	0.52403	0.1732	N	0.04880	-0.145	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.48468	-0.9033	10	0.41790	T	0.15	2.3049	7.6452	0.28316	0.1912:0.1764:0.5446:0.0878	.	530;530	O95817;Q53GY1	BAG3_HUMAN;.	M	530	ENSP00000358081:V530M	ENSP00000358081:V530M	V	+	1	0	BAG3	121426644	0.000000	0.05858	0.000000	0.03702	0.539000	0.34962	-2.647000	0.00860	-2.394000	0.00583	-1.510000	0.00946	GTG		0.542	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		4	92	0	0	0	1	0	4	92				
TBC1D8B	54885	broad.mit.edu	37	X	106082536	106082536	+	Splice_Site	SNP	A	A	G			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chrX:106082536A>G	ENST00000357242.5	+	8	1377		c.e8-1		TBC1D8B_ENST00000276175.3_Intron|TBC1D8B_ENST00000310452.2_Splice_Site	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)								calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTCTTTTTCAGCTTGCTATT	0.363																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.e8-1		TBC1 domain family, member 8B (with GRAM domain)							141.0	131.0	134.0					X																	106082536		2203	4300	6503	SO:0001630	splice_region_variant	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106082536A>G	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1204-1A>G	X.37:g.106082536A>G						TBC1D8B_ENST00000310452.2_Splice_Site|TBC1D8B_ENST00000276175.3_Intron		NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			8	1377	+								B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Splice_Site	SNP	ENST00000357242.5	37		CCDS14522.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.684030	0.47991	.	.	ENSG00000133138	ENST00000357242;ENST00000310452	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8539	0.52427	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBC1D8B	105969192	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	5.667000	0.68067	1.818000	0.53035	0.417000	0.27973	.		0.363	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752	Intron	4	95	0	0	0	1	0	4	95				
DHTKD1	55526	broad.mit.edu	37	10	12162226	12162226	+	Missense_Mutation	SNP	C	C	G			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr10:12162226C>G	ENST00000263035.4	+	16	2680	c.2618C>G	c.(2617-2619)tCg>tGg	p.S873W		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	873					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GGTCCGTGGTCGTTTGTTTCT	0.443																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2617-2619)tCg>tGg		dehydrogenase E1 and transketolase domain containing 1							216.0	200.0	206.0					10																	12162226		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12162226C>G	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2618C>G	10.37:g.12162226C>G	ENSP00000263035:p.Ser873Trp						p.S873W	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		16	2680	+		Renal(717;0.228)	873					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.2618C>G	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560696	0.65538	.	.	ENSG00000181192	ENST00000263035	T	0.05649	3.41	5.33	-10.3	0.00346	.	0.442893	0.28031	N	0.016880	T	0.09686	0.0238	M	0.73372	2.23	0.53688	D	0.99997	P	0.49783	0.928	P	0.52909	0.713	T	0.48031	-0.9070	10	0.39692	T	0.17	1.2029	9.7783	0.40632	0.0:0.2857:0.4559:0.2584	.	873	Q96HY7	DHTK1_HUMAN	W	873	ENSP00000263035:S873W	ENSP00000263035:S873W	S	+	2	0	DHTKD1	12202232	0.747000	0.28283	0.109000	0.21407	0.784000	0.44337	0.476000	0.22180	-2.029000	0.00930	-0.131000	0.14894	TCG		0.443	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		78	100	0	0	0	1	0	78	100				
ARID3C	138715	broad.mit.edu	37	9	34622507	34622507	+	Missense_Mutation	SNP	G	G	T	rs200075015		TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr9:34622507G>T	ENST00000378909.2	-	5	977	c.885C>A	c.(883-885)aaC>aaA	p.N295K	DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	295	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CCAGACAAGGGTTTGGAATTC	0.572													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17599	0.0		0.0	False		,,,				2504	0.0					ENST00000378909.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14						c.(883-885)aaC>aaA		AT rich interactive domain 3C (BRIGHT-like)							71.0	76.0	74.0					9																	34622507		2203	4300	6503	SO:0001583	missense	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34622507G>T		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"""-"""	21209	protein-coding gene	gene with protein product			"""AT rich interactive domain 3C (BRIGHT- like)"""				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.885C>A	9.37:g.34622507G>T	ENSP00000368189:p.Asn295Lys						p.N295K	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	5	977	-	all_epithelial(49;0.102)		295			Pro-rich.			Missense_Mutation	SNP	ENST00000378909.2	37	c.885C>A	CCDS35006.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.213	-1.034799	0.02029	.	.	ENSG00000205143	ENST00000378909	T	0.42513	0.97	4.16	4.16	0.48862	.	0.764862	0.11604	N	0.547482	T	0.21145	0.0509	N	0.08118	0	0.20074	N	0.999932	B	0.11235	0.004	B	0.04013	0.001	T	0.04961	-1.0915	10	0.06099	T	0.92	-1.4087	12.2586	0.54636	0.0:0.0:1.0:0.0	.	295	A6NKF2	ARI3C_HUMAN	K	295	ENSP00000368189:N295K	ENSP00000368189:N295K	N	-	3	2	ARID3C	34612507	0.993000	0.37304	0.965000	0.40720	0.156000	0.22039	1.745000	0.38278	2.603000	0.88011	0.448000	0.29417	AAC		0.572	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		31	39	1	0	6.84511e-11	1	6.84511e-11	31	39				
KRTAP6-2	337967	broad.mit.edu	37	21	31971176	31971176	+	Silent	SNP	G	G	A	rs375803106		TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr21:31971176G>A	ENST00000334897.3	-	1	43	c.18C>T	c.(16-18)taC>taT	p.Y6Y	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	6						intermediate filament (GO:0005882)				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						AGTAGTTTCCGTAGTAGCTGC	0.522																																						ENST00000334897.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						c.(16-18)taC>taT		keratin associated protein 6-2							201.0	166.0	178.0					21																	31971176		2203	4300	6503	SO:0001819	synonymous_variant	337967					intermediate filament		g.chr21:31971176G>A	AP001708	CCDS13600.1	21q22.1	2011-02-10			ENSG00000186930	ENSG00000186930		"""Keratin associated proteins"""	18932	protein-coding gene	gene with protein product						12359730	Standard	NM_181604		Approved	KAP6.2	uc011adc.2	Q3LI66	OTTHUMG00000057794	ENST00000334897.3:c.18C>T	21.37:g.31971176G>A							p.Y6Y	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN			1	43	-			6						Silent	SNP	ENST00000334897.3	37	c.18C>T	CCDS13600.1																																																																																				0.522	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3			30	40	0	0	0	1	0	30	40				
PRG2	5553	broad.mit.edu	37	11	57154992	57154992	+	Nonsense_Mutation	SNP	G	G	A	rs143145891		TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr11:57154992G>A	ENST00000311862.5	-	6	698	c.625C>T	c.(625-627)Cga>Tga	p.R209*	PRG2_ENST00000525955.1_Nonsense_Mutation_p.R209*|PRG2_ENST00000533605.1_Nonsense_Mutation_p.R198*	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	209	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	CAGTGGGCTCGACGCCAGTGG	0.592																																						ENST00000311862.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10						c.(625-627)Cga>Tga		proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)		G	stop/ARG	1,4401	2.1+/-5.4	0,1,2200	68.0	68.0	68.0		625	0.4	0.0	11	dbSNP_134	68	0,8592		0,0,4296	no	stop-gained	PRG2	NM_002728.4		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		209/223	57154992	1,12993	2201	4296	6497	SO:0001587	stop_gained	5553							g.chr11:57154992G>A	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.625C>T	11.37:g.57154992G>A	ENSP00000312134:p.Arg209*					PRG2_ENST00000533605.1_Nonsense_Mutation_p.R198*|PRG2_ENST00000525955.1_Nonsense_Mutation_p.R209*	p.R209*	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	698	-								A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Nonsense_Mutation	SNP	ENST00000311862.5	37	c.625C>T	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881788	0.33255	2.27E-4	0.0	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	.	.	.	4.81	0.386	0.16254	.	1.264410	0.06125	N	0.669503	.	.	.	.	.	.	0.42832	D	0.994027	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8387	0.52342	0.0:0.0:0.3946:0.6054	.	.	.	.	X	209;198;209	.	ENSP00000312134:R209X	R	-	1	2	PRG2	56911568	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.726000	0.04936	0.065000	0.16485	-0.158000	0.13435	CGA		0.592	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		52	33	0	0	0	1	0	52	33				
NR1H4	9971	broad.mit.edu	37	12	100904692	100904692	+	Silent	SNP	C	C	T			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr12:100904692C>T	ENST00000551379.1	+	2	274	c.246C>T	c.(244-246)ttC>ttT	p.F82F	NR1H4_ENST00000549996.1_Silent_p.F72F|NR1H4_ENST00000548884.1_Silent_p.F72F|NR1H4_ENST00000392986.3_Silent_p.F72F|NR1H4_ENST00000188403.7_Silent_p.F82F			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	82					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	ACCTGGGTTTCTACCCCCAGC	0.483																																						ENST00000548884.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						c.(214-216)ttC>ttT		nuclear receptor subfamily 1, group H, member 4							85.0	77.0	80.0					12																	100904692		2203	4300	6503	SO:0001819	synonymous_variant	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100904692C>T	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.246C>T	12.37:g.100904692C>T						NR1H4_ENST00000392986.3_Silent_p.F72F|NR1H4_ENST00000188403.7_Silent_p.F82F|NR1H4_ENST00000549996.1_Silent_p.F72F|NR1H4_ENST00000551379.1_Silent_p.F82F	p.F72F	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN			4	757	+			82					A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Silent	SNP	ENST00000551379.1	37	c.216C>T	CCDS55876.1																																																																																				0.483	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		34	48	0	0	0	1	0	34	48				
DUOX1	53905	broad.mit.edu	37	15	45440569	45440569	+	Silent	SNP	A	A	G			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr15:45440569A>G	ENST00000321429.4	+	22	3149	c.2742A>G	c.(2740-2742)gaA>gaG	p.E914E	DUOX1_ENST00000389037.3_Silent_p.E914E|DUOX1_ENST00000561166.1_Silent_p.E560E	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	914	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACAAGGAGGAACTGACATGGG	0.572																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(2740-2742)gaA>gaG		dual oxidase 1							125.0	114.0	118.0					15																	45440569		2198	4298	6496	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45440569A>G	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2742A>G	15.37:g.45440569A>G						DUOX1_ENST00000389037.3_Silent_p.E914E|DUOX1_ENST00000561166.1_Silent_p.E560E	p.E914E	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	22	3149	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	914			EF-hand 3.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.2742A>G	CCDS32221.1																																																																																				0.572	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		4	75	0	0	0	1	0	4	75				
TFR2	7036	broad.mit.edu	37	7	100238453	100238453	+	Missense_Mutation	SNP	G	G	A	rs139318596		TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr7:100238453G>A	ENST00000462107.1	-	4	616	c.329C>T	c.(328-330)gCg>gTg	p.A110V	TFR2_ENST00000431692.1_Missense_Mutation_p.A110V|TFR2_ENST00000223051.3_Missense_Mutation_p.A110V			Q9UP52	TFR2_HUMAN	transferrin receptor 2	110					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	GTCTCCGCACGCCTGGCAGGA	0.592																																						ENST00000462107.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(328-330)gCg>gTg		transferrin receptor 2		G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	66.0	60.0	62.0		329	3.6	0.6	7	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TFR2	NM_003227.3	64	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	110/802	100238453	3,13003	2203	4300	6503	SO:0001583	missense	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100238453G>A	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.329C>T	7.37:g.100238453G>A	ENSP00000420525:p.Ala110Val					TFR2_ENST00000431692.1_Missense_Mutation_p.A110V|TFR2_ENST00000223051.3_Missense_Mutation_p.A110V	p.A110V			Q9UP52	TFR2_HUMAN			4	616	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		110					A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	c.329C>T	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	G	8.722	0.914603	0.17907	4.54E-4	1.16E-4	ENSG00000106327	ENST00000223051;ENST00000431692;ENST00000462107	T;T;T	0.54279	0.59;0.58;0.59	4.47	3.59	0.41128	.	0.947299	0.08818	N	0.889275	T	0.36744	0.0978	N	0.19112	0.55	0.21933	N	0.999461	B	0.14438	0.01	B	0.04013	0.001	T	0.19516	-1.0303	10	0.29301	T	0.29	-4.633	8.5519	0.33458	0.1063:0.0:0.8937:0.0	.	110	Q9UP52	TFR2_HUMAN	V	110	ENSP00000223051:A110V;ENSP00000413905:A110V;ENSP00000420525:A110V	ENSP00000223051:A110V	A	-	2	0	TFR2	100076389	0.952000	0.32445	0.583000	0.28640	0.050000	0.14768	3.279000	0.51670	1.256000	0.44068	0.313000	0.20887	GCG		0.592	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		25	35	0	0	0	1	0	25	35				
DOCK9	23348	broad.mit.edu	37	13	99533880	99533880	+	Splice_Site	SNP	C	C	T			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr13:99533880C>T	ENST00000376460.1	-	25	2757	c.2677G>A	c.(2677-2679)Gtc>Atc	p.V893I	DOCK9_ENST00000448493.2_Splice_Site_p.V905I|DOCK9_ENST00000339416.2_Splice_Site_p.V894I|DOCK9_ENST00000442173.1_Splice_Site_p.V893I	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	894					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGAATAATGACCCTACACACC	0.388																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.e25-1		dedicator of cytokinesis 9							78.0	72.0	74.0					13																	99533880		1944	4133	6077	SO:0001630	splice_region_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99533880C>T	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2676-1G>A	13.37:g.99533880C>T						DOCK9_ENST00000448493.2_Splice_Site_p.V905_splice|DOCK9_ENST00000339416.2_Splice_Site_p.V894_splice|DOCK9_ENST00000442173.1_Splice_Site_p.V893_splice	p.V893_splice	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			25	2757	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		894					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Splice_Site	SNP	ENST00000376460.1	37	c.2675_splice	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	34	5.333563	0.95758	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.67171	-0.25;-0.25;-0.1;2.02	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.82185	0.4982	M	0.86953	2.85	0.80722	D	1	P;P;P;B;P	0.45569	0.861;0.849;0.691;0.071;0.849	P;P;P;B;B	0.54401	0.677;0.751;0.566;0.413;0.443	D	0.84635	0.0692	10	0.72032	D	0.01	.	19.6793	0.95956	0.0:1.0:0.0:0.0	.	894;893;893;893;894	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	I	893;894;894;894;893;894;905;893	ENSP00000365643:V893I;ENSP00000341086:V894I;ENSP00000401958:V905I;ENSP00000406883:V893I	ENSP00000341086:V894I	V	-	1	0	DOCK9	98331881	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.405000	0.80007	2.713000	0.92767	0.655000	0.94253	GTC		0.388	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296	Missense_Mutation	3	8	0	0	0	1	0	3	8				
MATN4	8785	broad.mit.edu	37	20	43933259	43933259	+	Silent	SNP	G	G	A			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr20:43933259G>A	ENST00000372754.1	-	2	260	c.252C>T	c.(250-252)agC>agT	p.S84S	MATN4_ENST00000342716.4_Silent_p.S84S|MATN4_ENST00000372756.1_Silent_p.S84S|MATN4_ENST00000360607.6_Silent_p.S84S|RBPJL_ENST00000372741.3_5'Flank|RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000537548.1_Silent_p.S84S|MATN4_ENST00000372751.4_Intron|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000353917.5_Silent_p.S84S			O95460	MATN4_HUMAN	matrilin 4	84	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GAGGGAAGACGCTCTGCACTT	0.652																																						ENST00000537548.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(250-252)agC>agT		matrilin 4							38.0	35.0	36.0					20																	43933259		2203	4300	6503	SO:0001819	synonymous_variant	8785					extracellular region	protein binding	g.chr20:43933259G>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.252C>T	20.37:g.43933259G>A						MATN4_ENST00000372754.1_Silent_p.S84S|MATN4_ENST00000372756.1_Silent_p.S84S|MATN4_ENST00000342716.4_Silent_p.S84S|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000360607.5_Silent_p.S84S|MATN4_ENST00000353917.5_Silent_p.S84S	p.S84S			O95460	MATN4_HUMAN			4	496	-		Myeloproliferative disorder(115;0.0122)	84			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37	c.252C>T																																																																																					0.652	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			23	26	0	0	0	1	0	23	26				
PRKACB	5567	broad.mit.edu	37	1	84647929	84647929	+	Missense_Mutation	SNP	C	C	G			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr1:84647929C>G	ENST00000370689.2	+	3	419	c.155C>G	c.(154-156)aCa>aGa	p.T52R	PRKACB_ENST00000394839.2_Missense_Mutation_p.T55R|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370685.3_Missense_Mutation_p.T99R|PRKACB_ENST00000394838.2_Missense_Mutation_p.T59R|PRKACB_ENST00000370682.3_Missense_Mutation_p.T56R|PRKACB_ENST00000370680.1_Missense_Mutation_p.T58R|PRKACB_ENST00000370688.3_Missense_Mutation_p.T52R	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	52	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		ACCCTTGGAACAGGTTCATTT	0.323																																						ENST00000370689.2																			0				breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16						c.(154-156)aCa>aGa		protein kinase, cAMP-dependent, catalytic, beta							100.0	100.0	100.0					1																	84647929		2203	4300	6503	SO:0001583	missense	5567				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	g.chr1:84647929C>G	BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.155C>G	1.37:g.84647929C>G	ENSP00000359723:p.Thr52Arg					PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370680.1_Missense_Mutation_p.T58R|PRKACB_ENST00000370685.3_Missense_Mutation_p.T99R|PRKACB_ENST00000394838.2_Missense_Mutation_p.T59R|PRKACB_ENST00000370688.3_Missense_Mutation_p.T52R|PRKACB_ENST00000370682.3_Missense_Mutation_p.T56R|PRKACB_ENST00000394839.2_Missense_Mutation_p.T55R	p.T52R	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN		all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)	3	419	+			52			Protein kinase.		B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	c.155C>G	CCDS691.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881002	0.91740	.	.	ENSG00000142875	ENST00000370689;ENST00000370688;ENST00000370685;ENST00000446538;ENST00000370684;ENST00000436133;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000432111;ENST00000450730;ENST00000370680;ENST00000413538;ENST00000417530;ENST00000394839;ENST00000370681	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;3.26	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57125	0.2032	N	0.05306	-0.075	0.80722	D	1	D;B;B;B;B;B;B;P;B;D;B	0.65815	0.995;0.056;0.069;0.022;0.019;0.056;0.008;0.535;0.1;0.995;0.003	D;B;B;B;B;B;B;B;B;D;B	0.83275	0.996;0.048;0.078;0.065;0.024;0.047;0.047;0.069;0.177;0.996;0.026	T	0.71108	-0.4688	10	0.87932	D	0	-14.6694	19.4363	0.94796	0.0:1.0:0.0:0.0	.	52;40;59;58;55;58;56;99;99;52;52	B2RB89;P22694-3;B4DKB0;B1APG3;B1APG4;P22694-6;P22694-7;P22694-2;B4E2L0;P22694;P22694-8	.;.;.;.;.;.;.;.;.;KAPCB_HUMAN;.	R	52;52;99;59;40;56;59;56;58;48;55;58;47;39;55;14	ENSP00000359723:T52R;ENSP00000359722:T52R;ENSP00000359719:T99R;ENSP00000401252:T59R;ENSP00000359718:T40R;ENSP00000390906:T56R;ENSP00000378314:T59R;ENSP00000359716:T56R;ENSP00000392275:T48R;ENSP00000393654:T55R;ENSP00000359714:T58R;ENSP00000397175:T47R;ENSP00000399326:T39R;ENSP00000378315:T55R	ENSP00000359713:T58R	T	+	2	0	PRKACB	84420517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.606000	0.88127	0.650000	0.86243	ACA		0.323	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		41	8	0	0	0	1	0	41	8				
GLOD4	51031	broad.mit.edu	37	17	680227	680227	+	Splice_Site	SNP	G	G	T			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr17:680227G>T	ENST00000301328.5	-	4	210	c.187C>A	c.(187-189)Cct>Act	p.P63T	GLOD4_ENST00000536578.1_Splice_Site_p.P39T|GLOD4_ENST00000301329.6_Splice_Site_p.P48T			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	63						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCATCATAAGGCCTAGAAAAT	0.453																																						ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.e3-1		glyoxalase domain containing 4							111.0	96.0	101.0					17																	680227		2203	4300	6503	SO:0001630	splice_region_variant	51031					mitochondrion		g.chr17:680227G>T	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.186-1C>A	17.37:g.680227G>T						GLOD4_ENST00000301328.5_Splice_Site_p.P63_splice|GLOD4_ENST00000536578.1_Splice_Site_p.P39_splice	p.P48_splice	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	3	227	-			63					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Splice_Site	SNP	ENST00000301328.5	37	c.140_splice		.	.	.	.	.	.	.	.	.	.	G	27.9	4.872655	0.91587	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	T;T;T	0.62232	0.05;0.04;0.04	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.71384	0.3333	L	0.31207	0.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.74697	-0.3578	10	0.87932	D	0	-11.4865	18.2547	0.90015	0.0:0.0:1.0:0.0	.	39;63;48	B7Z403;Q9HC38;Q9HC38-2	.;GLOD4_HUMAN;.	T	48;251;63;39	ENSP00000301329:P48T;ENSP00000301328:P63T;ENSP00000444315:P39T	ENSP00000301328:P63T	P	-	1	0	GLOD4	626977	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.492000	0.97957	2.549000	0.85964	0.655000	0.94253	CCT		0.453	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080	Missense_Mutation	35	38	1	0	2.20262e-25	1	2.2591e-25	35	38				
UBR4	23352	broad.mit.edu	37	1	19481549	19481549	+	Silent	SNP	C	C	G			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr1:19481549C>G	ENST00000375254.3	-	44	6348	c.6321G>C	c.(6319-6321)gcG>gcC	p.A2107A	UBR4_ENST00000375226.2_Silent_p.A2107A|UBR4_ENST00000375267.2_Silent_p.A2107A|UBR4_ENST00000375217.2_Silent_p.A2107A	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2107					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACCACCGCCCGCCACCTGGC	0.483																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(6319-6321)gcG>gcC		ubiquitin protein ligase E3 component n-recognin 4							143.0	128.0	133.0					1																	19481549		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19481549C>G	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6321G>C	1.37:g.19481549C>G						UBR4_ENST00000375226.2_Silent_p.A2107A|UBR4_ENST00000375217.2_Silent_p.A2107A|UBR4_ENST00000375254.3_Silent_p.A2107A	p.A2107A			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	44	6324	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2107					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.6321G>C	CCDS189.1																																																																																				0.483	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		36	58	0	0	0	1	0	36	58				
SLC35G3	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	A	G	rs74740601		TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr17:33520358A>G	ENST00000297307.5	-	1	1054	c.969T>C	c.(967-969)atT>atC	p.I323I	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	323	EamA 2.					integral component of membrane (GO:0016021)		p.I323I(1)									TCTGGGCTGTAATGATGGCAA	0.547																																						ENST00000297307.5																			1	Substitution - coding silent(1)	p.I323I(1)	lung(1)								c.(967-969)atT>atC		solute carrier family 35, member G3																																				SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520358A>G	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.969T>C	17.37:g.33520358A>G							p.I323I	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1054	-			323			DUF6 2.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.969T>C	CCDS11293.1																																																																																				0.547	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		4	101	0	0	0	1	0	4	101				
LARP4B	23185	broad.mit.edu	37	10	890943	890943	+	Missense_Mutation	SNP	T	T	G			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr10:890943T>G	ENST00000316157.3	-	5	523	c.483A>C	c.(481-483)aaA>aaC	p.K161N		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	161	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CCAATGTTTTTTTAAGTACTT	0.358																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(481-483)aaA>aaC		La ribonucleoprotein domain family, member 4B							127.0	120.0	123.0					10																	890943		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:890943T>G	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.483A>C	10.37:g.890943T>G	ENSP00000326128:p.Lys161Asn						p.K161N	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			5	523	-			161			HTH La-type RNA-binding.		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.483A>C	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.027786	0.75390	.	.	ENSG00000107929	ENST00000316157	T	0.46819	0.86	5.65	-3.81	0.04294	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	M	0.80422	2.495	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.69412	-0.5152	10	0.72032	D	0.01	-18.7897	15.5529	0.76167	0.0:0.5858:0.0:0.4142	.	161	Q92615	LAR4B_HUMAN	N	161	ENSP00000326128:K161N	ENSP00000326128:K161N	K	-	3	2	LARP4B	880943	0.998000	0.40836	0.925000	0.36789	0.969000	0.65631	0.330000	0.19715	-0.921000	0.03794	-0.468000	0.05107	AAA		0.358	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		44	47	0	0	0	1	0	44	47				
IVL	3713	broad.mit.edu	37	1	152883994	152883994	+	Missense_Mutation	SNP	A	A	G			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr1:152883994A>G	ENST00000368764.3	+	2	1785	c.1721A>G	c.(1720-1722)cAg>cGg	p.Q574R	IVL_ENST00000392667.2_Missense_Mutation_p.Q428R			P07476	INVO_HUMAN	involucrin	574					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCAGCAGCAGAAGCAGGAG	0.567																																						ENST00000368764.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1720-1722)cAg>cGg		involucrin							68.0	69.0	69.0					1																	152883994		2203	4300	6503	SO:0001583	missense	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152883994A>G	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1721A>G	1.37:g.152883994A>G	ENSP00000357753:p.Gln574Arg					IVL_ENST00000392667.2_Missense_Mutation_p.Q428R	p.Q574R			P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	1785	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		574					Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	c.1721A>G	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.309857	0.40895	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.16743	2.32;2.6	3.35	2.23	0.28157	.	.	.	.	.	T	0.04272	0.0118	L	0.45581	1.43	0.21064	N	0.999797	B	0.30281	0.275	B	0.26310	0.068	T	0.38023	-0.9680	9	0.36615	T	0.2	.	2.7808	0.05360	0.6554:0.0:0.1226:0.222	.	574	P07476	INVO_HUMAN	R	574;428	ENSP00000357753:Q574R;ENSP00000376435:Q428R	ENSP00000357753:Q574R	Q	+	2	0	IVL	151150618	0.014000	0.17966	0.236000	0.24074	0.235000	0.25334	2.149000	0.42244	0.672000	0.31204	0.460000	0.39030	CAG		0.567	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		19	37	0	0	0	1	0	19	37				
SOX5	6660	broad.mit.edu	37	12	23818383	23818383	+	Missense_Mutation	SNP	C	C	A			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr12:23818383C>A	ENST00000451604.2	-	7	1027	c.926G>T	c.(925-927)gGa>gTa	p.G309V	SOX5_ENST00000546136.1_Missense_Mutation_p.G296V|SOX5_ENST00000309359.1_Missense_Mutation_p.G296V|SOX5_ENST00000541536.1_Missense_Mutation_p.G296V|SOX5_ENST00000381381.2_Missense_Mutation_p.G296V|SOX5_ENST00000537393.1_Missense_Mutation_p.G274V|SOX5_ENST00000545921.1_Missense_Mutation_p.G299V			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	309					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTTACTACATCCAGCCTTATA	0.478																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(886-888)gGa>gTa		SRY (sex determining region Y)-box 5							122.0	128.0	126.0					12																	23818383		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23818383C>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.926G>T	12.37:g.23818383C>A	ENSP00000398273:p.Gly309Val					SOX5_ENST00000545921.1_Missense_Mutation_p.G299V|SOX5_ENST00000451604.2_Missense_Mutation_p.G309V|SOX5_ENST00000541536.1_Missense_Mutation_p.G296V|SOX5_ENST00000381381.2_Missense_Mutation_p.G296V|SOX5_ENST00000537393.1_Missense_Mutation_p.G274V|SOX5_ENST00000309359.1_Missense_Mutation_p.G296V	p.G296V			P35711	SOX5_HUMAN			6	889	-			309					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.887G>T	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773239	0.90108	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921	D;D;D;D;D;D;D	0.97430	-4.29;-4.29;-4.38;-4.29;-4.27;-4.38;-4.29	5.28	5.28	0.74379	.	0.393014	0.27478	N	0.019187	D	0.98005	0.9343	L	0.60455	1.87	0.80722	D	1	B;D;P	0.76494	0.192;0.999;0.56	B;D;B	0.87578	0.094;0.998;0.158	D	0.98285	1.0510	10	0.52906	T	0.07	.	19.0818	0.93186	0.0:1.0:0.0:0.0	.	274;296;309	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	V	296;296;296;309;261;274;296;299	ENSP00000437487:G296V;ENSP00000308927:G296V;ENSP00000370788:G296V;ENSP00000398273:G309V;ENSP00000439832:G274V;ENSP00000441973:G296V;ENSP00000443520:G299V	ENSP00000308927:G296V	G	-	2	0	SOX5	23709650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.601000	0.82783	2.733000	0.93635	0.655000	0.94253	GGA		0.478	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		95	118	1	0	3.82633e-55	1	4.13657e-55	95	118				
NOP58	51602	broad.mit.edu	37	2	203155921	203155921	+	Silent	SNP	A	A	C			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr2:203155921A>C	ENST00000264279.5	+	8	934	c.708A>C	c.(706-708)gcA>gcC	p.A236A	SNORD11B_ENST00000607707.1_RNA|SNORD11_ENST00000459124.1_RNA	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	236				KAAAEISMGTEVSEEDICNILHLCTQ -> EGSCRDIHGNR GFRRRYLQYSASLHP (in Ref. 6; AAF29084). {ECO:0000305}.	cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						AAGTGAAAGCAGCTGCAGAGA	0.433																																						ENST00000264279.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						c.(706-708)gcA>gcC		NOP58 ribonucleoprotein							110.0	113.0	112.0					2																	203155921		2203	4300	6503	SO:0001819	synonymous_variant	51602				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	g.chr2:203155921A>C		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.708A>C	2.37:g.203155921A>C							p.A236A	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN			8	934	+			236	KAAAEISMGTEVSEEDICNILHLCTQ -> EGSCRDIHGNR GFRRRYLQYSASLHP (in Ref. 6; AAF29084).				Q53SA4|Q6PK08|Q9P036|Q9UFN3	Silent	SNP	ENST00000264279.5	37	c.708A>C	CCDS2353.1																																																																																				0.433	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		48	62	0	0	0	1	0	48	62				
ZNF676	163223	broad.mit.edu	37	19	22364263	22364263	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr19:22364263T>C	ENST00000397121.2	-	3	573	c.256A>G	c.(256-258)Acc>Gcc	p.T86A		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCCACATTGGTACAACTAATT	0.338																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(256-258)Acc>Gcc		zinc finger protein 676							110.0	102.0	104.0					19																	22364263		1954	4162	6116	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364263T>C	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.256A>G	19.37:g.22364263T>C	ENSP00000380310:p.Thr86Ala						p.T86A	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	573	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	86					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.256A>G	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	1.934	-0.445182	0.04604	.	.	ENSG00000196109	ENST00000397121	T	0.06933	3.24	0.113	0.113	0.14631	.	.	.	.	.	T	0.04227	0.0117	N	0.02011	-0.69	0.09310	N	1	P	0.46578	0.88	P	0.50270	0.636	T	0.39761	-0.9598	8	0.17369	T	0.5	.	.	.	.	.	86	Q8N7Q3	ZN676_HUMAN	A	86	ENSP00000380310:T86A	ENSP00000380310:T86A	T	-	1	0	ZNF676	22156103	0.001000	0.12720	0.061000	0.19648	0.246000	0.25737	0.606000	0.24194	0.158000	0.19367	0.156000	0.16432	ACC		0.338	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		56	76	0	0	0	1	0	56	76				
POLR2A	5430	broad.mit.edu	37	17	7417036	7417036	+	Missense_Mutation	SNP	A	A	G			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr17:7417036A>G	ENST00000322644.6	+	29	5852	c.5453A>G	c.(5452-5454)tAt>tGt	p.Y1818C		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1818	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TCTCCAACCTATACCCCAAGC	0.582																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(5452-5454)tAt>tGt		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							313.0	295.0	301.0					17																	7417036		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7417036A>G			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5453A>G	17.37:g.7417036A>G	ENSP00000314949:p.Tyr1818Cys						p.Y1818C	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			29	5852	+		Prostate(122;0.173)	1818			52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.5453A>G	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.358200	0.41801	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.73258	-0.73	3.4	3.4	0.38934	.	0.000000	0.41938	U	0.000784	D	0.82783	0.5112	M	0.92122	3.275	0.80722	D	1	P	0.51240	0.943	P	0.54706	0.759	D	0.85907	0.1438	10	0.56958	D	0.05	.	11.3013	0.49306	1.0:0.0:0.0:0.0	.	1818	P24928	RPB1_HUMAN	C	1774;717;1818	ENSP00000314949:Y1818C	ENSP00000314949:Y1818C	Y	+	2	0	SLC35G6	7357760	1.000000	0.71417	0.986000	0.45419	0.973000	0.67179	6.032000	0.70918	1.567000	0.49668	0.248000	0.18094	TAT		0.582	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		117	147	0	0	0	1	0	117	147				
OR52I2	143502	broad.mit.edu	37	11	4608623	4608623	+	Missense_Mutation	SNP	G	G	C			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr11:4608623G>C	ENST00000312614.4	+	1	603	c.581G>C	c.(580-582)aGt>aCt	p.S194T		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGATGGTGAGTCATCTACCT	0.507																																						ENST00000312614.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(580-582)aGt>aCt		olfactory receptor, family 52, subfamily I, member 2							131.0	128.0	129.0					11																	4608623		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608623G>C	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.581G>C	11.37:g.4608623G>C	ENSP00000308764:p.Ser194Thr						p.S194T	NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	603	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	194					B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.581G>C	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	G	3.315	-0.140030	0.06669	.	.	ENSG00000226288	ENST00000312614	T	0.72051	-0.62	4.17	2.0	0.26442	GPCR, rhodopsin-like superfamily (1);	0.127996	0.35772	N	0.002990	T	0.51244	0.1663	L	0.33624	1.015	0.09310	N	1	P	0.40681	0.727	B	0.35931	0.214	T	0.39035	-0.9633	10	0.20519	T	0.43	-6.8245	8.3837	0.32488	0.0:0.0:0.5425:0.4575	.	194	Q8NH67	O52I2_HUMAN	T	194	ENSP00000308764:S194T	ENSP00000308764:S194T	S	+	2	0	OR52I2	4565199	0.000000	0.05858	0.959000	0.39883	0.911000	0.54048	-0.981000	0.03766	0.942000	0.37525	0.638000	0.83543	AGT		0.507	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		50	42	0	0	0	1	0	50	42				
EPOR	2057	broad.mit.edu	37	19	11492639	11492639	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr19:11492639G>A	ENST00000222139.6	-	3	498	c.394C>T	c.(394-396)Cga>Tga	p.R132*	EPOR_ENST00000592375.2_Nonsense_Mutation_p.R132*	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	132					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	CGGTGATATCGCGGAGCGCCG	0.617											OREG0025255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000592375.2																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(394-396)Cga>Tga		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						65.0	56.0	59.0					19																	11492639		2203	4300	6503	SO:0001587	stop_gained	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11492639G>A	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.394C>T	19.37:g.11492639G>A	ENSP00000222139:p.Arg132*		OREG0025255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	672	EPOR_ENST00000222139.6_Nonsense_Mutation_p.R132*	p.R132*			P19235	EPOR_HUMAN			3	498	-			132					B2RCG4|Q15443|Q2M205	Nonsense_Mutation	SNP	ENST00000222139.6	37	c.394C>T	CCDS12260.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543544	0.86022	.	.	ENSG00000187266	ENST00000222139	.	.	.	3.49	1.12	0.20585	.	0.657976	0.14915	N	0.291027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-35.4346	4.0769	0.09908	0.1392:0.248:0.6129:0.0	.	.	.	.	X	132	.	ENSP00000222139:R132X	R	-	1	2	EPOR	11353639	0.043000	0.20138	0.001000	0.08648	0.174000	0.22865	1.394000	0.34509	0.832000	0.34804	0.305000	0.20034	CGA		0.617	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			11	27	0	0	0	1	0	11	27				
TMEM57	55219	broad.mit.edu	37	1	25775375	25775375	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr1:25775375delT	ENST00000374343.4	+	3	478	c.299delT	c.(298-300)cttfs	p.L100fs	TMEM57_ENST00000399766.3_Frame_Shift_Del_p.L100fs|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	100					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		ATACAGTGGCTTTTTTTTGCT	0.343																																						ENST00000374343.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(298-300)ctfs		transmembrane protein 57							143.0	133.0	136.0					1																	25775375		2203	4300	6503	SO:0001589	frameshift_variant	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25775375delT	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.299delT	1.37:g.25775375delT	ENSP00000363463:p.Leu100fs					TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Frame_Shift_Del_p.L100fs	p.L100fs	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	3	478	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	100					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Frame_Shift_Del	DEL	ENST00000374343.4	37	c.299delT	CCDS30638.1																																																																																				0.343	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		7	109						7	109	---	---	---	---
SUSD4	55061	broad.mit.edu	37	1	223536702	223536703	+	In_Frame_Ins	INS	-	-	TGC	rs371162328|rs568360954|rs143929528	byFrequency	TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr1:223536702_223536703insTGC	ENST00000343846.3	-	1	698_699	c.65_66insGCA	c.(64-66)caa>caGCAa	p.22_22Q>QQ	SUSD4_ENST00000366877.3_In_Frame_Ins_p.22_22Q>QQ|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000494793.2_In_Frame_Ins_p.22_22Q>QQ|SUSD4_ENST00000344029.6_In_Frame_Ins_p.22_22Q>QQ|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_In_Frame_Ins_p.22_22Q>QQ|SUSD4_ENST00000484758.2_In_Frame_Ins_p.22_22Q>QQ			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	22						integral component of membrane (GO:0016021)		p.Q22R(2)|p.Q22delQ(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGGACTGAGGTtgctgctgctg	0.574																																						ENST00000343846.3																			4	Substitution - Missense(2)|Deletion - In frame(2)	p.Q22R(2)|p.Q22delQ(2)	large_intestine(4)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(64-66)ccc>cGCAcc		sushi domain containing 4																																				SO:0001652	inframe_insertion	55061					integral to membrane		g.chr1:223536702_223536703insTGC	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.63_65dupGCA	1.37:g.223536709_223536711dupTGC	ENSP00000344219:p.Gln22dup					SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000366878.4_In_Frame_Ins_p.22_22P>RT|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000344029.6_In_Frame_Ins_p.22_22P>RT|SUSD4_ENST00000366877.3_In_Frame_Ins_p.22_22P>RT|SUSD4_ENST00000342943.3_In_Frame_Ins_p.22_22P>RT	p.22_22P>RT			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	1	698_699	-			22					D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	In_Frame_Ins	INS	ENST00000343846.3	37	c.65_66insGCA	CCDS41471.1																																																																																				0.574	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		4	7						4	7	---	---	---	---
SEMA3F	6405	broad.mit.edu	37	3	50212532	50212532	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr3:50212532delA	ENST00000002829.3	+	6	944	c.460delA	c.(460-462)acafs	p.T154fs	MIR566_ENST00000385187.1_RNA|SEMA3F_ENST00000413852.1_Intron|SEMA3F_ENST00000434342.1_Intron	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	154	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TTCTCAGGCCACACCATGGAC	0.687																																						ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(460-462)cafs		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							22.0	24.0	24.0					3																	50212532		2199	4298	6497	SO:0001589	frameshift_variant	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50212532delA	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.460delA	3.37:g.50212532delA	ENSP00000002829:p.Thr154fs					SEMA3F_ENST00000434342.1_Intron|SEMA3F_ENST00000413852.1_Intron	p.T154fs	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	6	944	+			154	Missing (in Ref. 2).		Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Frame_Shift_Del	DEL	ENST00000002829.3	37	c.460delA	CCDS2811.1																																																																																				0.687	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		2	4						2	4	---	---	---	---
TMA16	55319	broad.mit.edu	37	4	164428219	164428219	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr4:164428219delA	ENST00000358572.5	+	2	379	c.38delA	c.(37-39)gaafs	p.E13fs	TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000513134.1_Frame_Shift_Del_p.E13fs|TMA16_ENST00000513272.1_Frame_Shift_Del_p.E13fs|TMA16_ENST00000508268.1_Frame_Shift_Del_p.E13fs	NM_018352.2	NP_060822.2	Q96EY4	TMA16_HUMAN	translation machinery associated 16 homolog (S. cerevisiae)	13						nucleus (GO:0005634)											GCAGGACGGGAAAAAAAAGTC	0.363																																						ENST00000358572.5																			0											c.(37-39)gafs		translation machinery associated 16 homolog (S. cerevisiae)				31,3523		10,11,1756	54.0	48.0	50.0			5.7	1.0	4		50	85,7737		21,43,3847	no	frameshift	C4orf43	NM_018352.2		31,54,5603	A1A1,A1R,RR		1.0867,0.8723,1.0197			164428219	116,11260	1837	4085	5922	SO:0001589	frameshift_variant	55319							g.chr4:164428219delA		CCDS43278.1	4q32.3	2012-03-02	2012-03-02	2012-03-02	ENSG00000198498	ENSG00000198498			25638	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 43"""	C4orf43		12477932	Standard	NM_018352		Approved	FLJ11184	uc003iqq.4	Q96EY4	OTTHUMG00000161528	ENST00000358572.5:c.38delA	4.37:g.164428219delA	ENSP00000351380:p.Glu13fs					TMA16_ENST00000513134.1_Frame_Shift_Del_p.E13fs|TMA16_ENST00000513272.1_Frame_Shift_Del_p.E13fs|TMA16_ENST00000508268.1_Frame_Shift_Del_p.E13fs|TMA16_ENST00000511562.1_3'UTR	p.E13fs	NM_018352.2	NP_060822.2	Q96EY4	CD043_HUMAN			2	379	+			13					Q0P6E4|Q0P6J1|Q9NUR7	Frame_Shift_Del	DEL	ENST00000358572.5	37	c.38delA	CCDS43278.1																																																																																				0.363	TMA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365208.1	NM_018352		2	4						2	4	---	---	---	---
EPC1	80314	broad.mit.edu	37	10	32581929	32581930	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr10:32581929_32581930insT	ENST00000263062.8	-	4	921_922	c.652_653insA	c.(652-654)atgfs	p.M218fs	EPC1_ENST00000319778.6_Frame_Shift_Ins_p.M218fs|EPC1_ENST00000375110.2_Frame_Shift_Ins_p.M168fs	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	218					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TCGAGTCTGCATTTTTTCAGTA	0.322																																						ENST00000319778.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(652-654)gcafs		enhancer of polycomb homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32581929_32581930insT	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.653dupA	10.37:g.32581935_32581935dupT	ENSP00000263062:p.Met218fs					EPC1_ENST00000263062.8_Frame_Shift_Ins_p.A218fs|EPC1_ENST00000375110.2_Frame_Shift_Ins_p.A168fs	p.A218fs	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN			4	954_955	-		Prostate(175;0.0199)	218					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Frame_Shift_Ins	INS	ENST00000263062.8	37	c.652_653insA	CCDS7172.1																																																																																				0.322	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			33	39						33	39	---	---	---	---
PTPN5	84867	broad.mit.edu	37	11	18764923	18764924	+	Frame_Shift_Ins	INS	-	-	T	rs552726407		TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr11:18764923_18764924insT	ENST00000358540.2	-	5	774_775	c.344_345insA	c.(343-345)aacfs	p.N115fs	PTPN5_ENST00000396170.1_Intron|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396171.4_Frame_Shift_Ins_p.N115fs|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000477854.1_5'UTR|PTPN5_ENST00000396168.1_Frame_Shift_Ins_p.N91fs|PTPN5_ENST00000396167.2_Intron	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	115					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGTTTGTGGCGTTCTGTGACCA	0.604																																						ENST00000358540.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						c.(343-345)agcfs		protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)																																				SO:0001589	frameshift_variant	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18764923_18764924insT	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.345dupA	11.37:g.18764925_18764925dupT	ENSP00000351342:p.Asn115fs					PTPN5_ENST00000396168.1_Frame_Shift_Ins_p.S91fs|PTPN5_ENST00000396171.4_Frame_Shift_Ins_p.S115fs|PTPN5_ENST00000396170.1_Intron|PTPN5_ENST00000396167.2_Intron|PTPN5_ENST00000477854.1_5'UTR|PTPN5_ENST00000496201.2_5'UTR	p.S115fs	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN			5	774_775	-			115					B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Frame_Shift_Ins	INS	ENST00000358540.2	37	c.344_345insA	CCDS7845.1																																																																																				0.604	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		45	75						45	75	---	---	---	---
GAS6	2621	broad.mit.edu	37	13	114550011	114550012	+	Frame_Shift_Ins	INS	-	-	TCCC	rs200983078|rs142546022	byFrequency	TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr13:114550011_114550012insTCCC	ENST00000355761.4	-	1	44_45	c.45_46insGGGA	c.(43-48)ggatgtfs	p.C16fs	GAS6_ENST00000357389.3_Intron|GAS6_ENST00000476291.1_5'Flank|GAS6_ENST00000327773.6_Intron			Q14393	GAS6_HUMAN	growth arrest-specific 6	0					activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GACAGCAGACATCCCGCTAGGG	0.614																																						ENST00000355761.4																			0				central_nervous_system(4)|ovary(1)	5						c.(43-48)gggtctfs		growth arrest-specific 6				247,2277		40,167,1055						0.5	0.0		dbSNP_130	13	1,4955		0,1,2477	no	intron	GAS6	NM_000820.2		40,168,3532	A1A1,A1R,RR		0.0202,9.7861,3.3155				248,7232				SO:0001589	frameshift_variant	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114550011_114550012insTCCC		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000355761.4:c.42_45dupGGGA	13.37:g.114550012_114550015dupTCCC	ENSP00000348003:p.Cys16fs					GAS6_ENST00000327773.6_Intron|GAS6_ENST00000357389.3_Intron	p.S16fs			Q14393	GAS6_HUMAN			1	44_45	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	0					B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Frame_Shift_Ins	INS	ENST00000355761.4	37	c.45_46insGGGA																																																																																					0.614	GAS6-201	KNOWN	basic	protein_coding	protein_coding		NM_000820		4	6						4	6	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438																																						ENST00000429810.2																			0																																																			0							g.chr16:74372915delT																													16.37:g.74372915delT														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.438	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			3	3						3	3	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11049520	11049520	+	RNA	DEL	C	C	-			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr21:11049520delC	ENST00000470054.1	-	0	588							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCGCTGTATCCAGGCACATT	0.458																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							81.0	37.0	50.0					21																	11049520		692	1580	2272			85319							g.chr21:11049520delC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049520delC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	588	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.458	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		9	190						9	190	---	---	---	---
