#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
TG	7038	broad.mit.edu	37	8	133906022	133906022	+	Missense_Mutation	SNP	G	G	A	rs375996100	byFrequency	TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr8:133906022G>A	ENST00000220616.4	+	11	2889	c.2849G>A	c.(2848-2850)cGg>cAg	p.R950Q	TG_ENST00000377869.1_Missense_Mutation_p.R950Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	950	Thyroglobulin type-1 8. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AACAGTTCTCGGTTCCCTCTG	0.572																																						uc003ytw.3																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(2848-2850)cGg>cAg		Homo sapiens thyroglobulin (TG), mRNA.							134.0	125.0	128.0					8																	133906022		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133906022G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2849G>A	8.37:g.133906022G>A	ENSP00000220616:p.Arg950Gln		Somatic					p.R950Q	NM_003235	NP_003226	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	10	2890	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	950			Thyroglobulin type-1 8.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.2849G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	g	8.366	0.834213	0.16820	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.62105	0.05;0.05	5.14	-4.8	0.03190	.	1.621170	0.03855	N	0.272902	T	0.30355	0.0762	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.19160	-1.0314	10	0.19147	T	0.46	.	8.4662	0.32958	0.6663:0.1668:0.1669:0.0	.	950	P01266	THYG_HUMAN	Q	950	ENSP00000367100:R950Q;ENSP00000220616:R950Q	ENSP00000220616:R950Q	R	+	2	0	TG	133975204	0.000000	0.05858	0.001000	0.08648	0.735000	0.41995	-0.425000	0.07017	-0.782000	0.04541	0.380000	0.24917	CGG		0.572	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		4	111	0	0	0	1	0	4	111				
FOXM1	2305	broad.mit.edu	37	12	2983216	2983216	+	Silent	SNP	T	T	G			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr12:2983216T>G	ENST00000359843.3	-	2	497	c.429A>C	c.(427-429)ccA>ccC	p.P143P	FOXM1_ENST00000361953.3_Silent_p.P143P|FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000342628.2_Silent_p.P143P	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	143					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CTGCAGGTTTTGGTCCCAAGG	0.572																																						uc001qle.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(427-429)ccA>ccC		Homo sapiens forkhead box M1 (FOXM1), transcript variant 1, mRNA.							190.0	185.0	187.0					12																	2983216		2203	4300	6503	SO:0001819	synonymous_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2983216T>G	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.429A>C	12.37:g.2983216T>G			Somatic				FOXM1_uc001qlf.3_Silent_p.P143P|FOXM1_uc009zea.3_Silent_p.P143P|FOXM1_uc009zeb.3_Silent_p.P143P|FOXM1_uc001qlg.3_Silent_p.P143P	p.P143P	NM_202002	NP_973731	WXS	Illumina GAIIx	Phase_I	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		1	712	-			143					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	c.429A>C	CCDS8515.1																																																																																				0.572	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		3	134	0	0	0	1	0	3	134				
THPO	7066	broad.mit.edu	37	3	184090683	184090683	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr3:184090683G>C	ENST00000204615.7	-	6	894	c.680C>G	c.(679-681)gCc>gGc	p.A227G	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Missense_Mutation_p.S188R|THPO_ENST00000477594.1_5'Flank|THPO_ENST00000445696.2_Missense_Mutation_p.A223G	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	227					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGAATCTTGGCTCTGAATCC	0.527																																						uc003fol.1																			0				NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(679-681)gCc>gGc		Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.							62.0	59.0	60.0					3																	184090683		2203	4300	6503	SO:0001583	missense	7066				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	g.chr3:184090683G>C		CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"""Endogenous ligands"""	11795	protein-coding gene	gene with protein product	"""prepro-thrombopoietin"", ""megakaryocyte stimulating factor"", ""myeloproliferative leukemia virus oncogene ligand"", ""megakaryocyte growth and development factor"", ""MPL ligand"", ""megakaryocyte colony-stimulating factor"", ""c-mpl ligand"", ""thrombopoietin nirs variant 1"""	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.680C>G	3.37:g.184090683G>C	ENSP00000204615:p.Ala227Gly		Somatic				THPO_uc003fom.2_Missense_Mutation_p.A223G|THPO_uc021xii.1_Missense_Mutation_p.S221R|THPO_uc003fon.3_Missense_Mutation_p.S188R|THPO_uc011bro.2_Missense_Mutation_p.S184R|THPO_uc003fop.3_Missense_Mutation_p.S184R|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Intron|THPO_uc003for.1_Non-coding_Transcript|THPO_uc003fos.1_Non-coding_Transcript	p.A227G	NM_000460	NP_000451	WXS	Illumina GAIIx	Phase_I	P40225	TPO_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	895	-	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		227					A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	37	c.680C>G	CCDS3265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.26|12.26	1.884739|1.884739	0.33255|0.33255	.|.	.|.	ENSG00000090534|ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000353488|ENST00000421442	T;T|T	0.35421|0.37915	1.31;1.32|1.17	4.18|4.18	2.29|2.29	0.28610|0.28610	Four-helical cytokine, core (1);|.	0.474650|.	0.17772|.	N|.	0.162553|.	T|T	0.25419|0.25419	0.0618|0.0618	L|L	0.29908|0.29908	0.895|0.895	0.22926|0.22926	N|N	0.998557|0.998557	P;P|B	0.40731|0.14012	0.728;0.608|0.009	B;B|B	0.38616|0.12156	0.277;0.143|0.007	T|T	0.21280|0.21280	-1.0250|-1.0250	10|9	0.72032|0.62326	D|D	0.01|0.03	-8.2907|-8.2907	7.0482|7.0482	0.25059|0.25059	0.2228:0.0:0.7772:0.0|0.2228:0.0:0.7772:0.0	.|.	223;227|188	P40225-2;P40225|F8W6L1	.;TPO_HUMAN|.	G|R	227;223;188|188	ENSP00000204615:A227G;ENSP00000410763:A223G|ENSP00000411704:S188R	ENSP00000204615:A227G|ENSP00000411704:S188R	A|S	-|-	2|3	0|2	THPO|THPO	185573377|185573377	0.990000|0.990000	0.36364|0.36364	0.994000|0.994000	0.49952|0.49952	0.791000|0.791000	0.44710|0.44710	1.387000|1.387000	0.34430|0.34430	0.943000|0.943000	0.37553|0.37553	0.461000|0.461000	0.40582|0.40582	GCC|AGC		0.527	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460		4	50	0	0	0	1	0	4	50				
UBASH3A	53347	broad.mit.edu	37	21	43838718	43838718	+	Splice_Site	SNP	G	G	T			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr21:43838718G>T	ENST00000319294.6	+	7	1077	c.1046G>T	c.(1045-1047)aGg>aTg	p.R349M	UBASH3A_ENST00000291535.6_Splice_Site_p.R311M|RNU6-1149P_ENST00000516810.1_RNA|UBASH3A_ENST00000398367.1_Splice_Site_p.R311M	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	349					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GTGAAGCACAGGTGAGTGCTG	0.582																																						uc002zbe.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.e7+1		Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.							28.0	30.0	29.0					21																	43838718		2203	4300	6503	SO:0001630	splice_region_variant	53347					cytosol|nucleus		g.chr21:43838718G>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1046+1G>T	21.37:g.43838718G>T			Somatic				UBASH3A_uc002zbf.3_Splice_Site_p.R311_splice|UBASH3A_uc010gpe.3_Splice_Site_p.R311_splice|UBASH3A_uc010gpc.3_Splice_Site|UBASH3A_uc010gpd.3_Splice_Site|U6_uc021wjq.1_5'Flank	p.R349_splice	NM_018961	NP_061834	WXS	Illumina GAIIx	Phase_I	P57075	UBS3A_HUMAN			7	1130	+			349					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Splice_Site	SNP	ENST00000319294.6	37	c.1046_splice	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955041	0.73902	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.10860	3.0;2.99;2.83	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	T	0.22666	0.0547	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.03139	-1.1068	10	0.54805	T	0.06	-36.5097	18.9442	0.92615	0.0:0.0:1.0:0.0	.	311;311;349	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	M	311;349;311	ENSP00000291535:R311M;ENSP00000317327:R349M;ENSP00000381408:R311M	ENSP00000291535:R311M	R	+	2	0	UBASH3A	42711787	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	7.087000	0.76893	2.466000	0.83321	0.591000	0.81541	AGG		0.582	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895	Missense_Mutation	13	17	0	0	0	1	0	13	17				
PDPN	10630	broad.mit.edu	37	1	13942398	13942398	+	Splice_Site	SNP	A	A	G			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr1:13942398A>G	ENST00000509009.1	+	6	511		c.e6-1		PDPN_ENST00000376057.4_Splice_Site|PDPN_ENST00000376061.4_Splice_Site|PDPN_ENST00000294489.6_Splice_Site|PDPN_ENST00000513143.1_Splice_Site|PDPN_ENST00000487038.1_Splice_Site|PDPN_ENST00000475043.1_Splice_Site					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CTATTTTCACAGGCCCTAAAG	0.478																																						uc001avd.3																			0				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.e6-2		Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.							158.0	134.0	142.0					1																	13942398		2203	4300	6503	SO:0001630	splice_region_variant	10630				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		g.chr1:13942398A>G	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"""lung type I cell membrane associated glycoprotein"""	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.468-1A>G	1.37:g.13942398A>G			Somatic				PDPN_uc001avc.3_Splice_Site_p.R235_splice|PDPN_uc009vob.3_Splice_Site_p.S119_splice|PDPN_uc009voc.3_Splice_Site_p.S119_splice|PDPN_uc001ave.3_Splice_Site_p.R117_splice|PDPN_uc001avf.3_Splice_Site_p.S119_splice	p.S237_splice	NM_006474	NP_001006625	WXS	Illumina GAIIx	Phase_I	Q86YL7	PDPN_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)	6	760	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	161						Splice_Site	SNP	ENST00000509009.1	37	c.711_splice		.	.	.	.	.	.	.	.	.	.	A	12.39	1.922725	0.33908	.	.	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9836	0.47510	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDPN	13814985	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	4.428000	0.59894	2.087000	0.62958	0.533000	0.62120	.		0.478	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1	NM_006474	Intron	3	83	0	0	0	1	0	3	83				
STK32B	55351	broad.mit.edu	37	4	5468544	5468544	+	Missense_Mutation	SNP	A	A	C			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr4:5468544A>C	ENST00000282908.5	+	10	1446	c.1024A>C	c.(1024-1026)Aag>Cag	p.K342Q	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.K265Q|STK32B_ENST00000510398.1_Missense_Mutation_p.K295Q	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GGATGGCACAAAGGACAGCTG	0.502																																						uc003gih.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(1024-1026)Aag>Cag		Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.							81.0	78.0	79.0					4																	5468544		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5468544A>C	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.1024A>C	4.37:g.5468544A>C	ENSP00000282908:p.Lys342Gln		Somatic				STK32B_uc010ida.1_Missense_Mutation_p.K295Q	p.K342Q	NM_018401	NP_060871	WXS	Illumina GAIIx	Phase_I	Q9NY57	ST32B_HUMAN			9	1088	+			342		K -> T (in dbSNP:rs55961955).				Missense_Mutation	SNP	ENST00000282908.5	37	c.1024A>C	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852903	0.32699	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.68479	-0.26;0.05;-0.33	4.95	4.95	0.65309	.	0.000000	0.43416	U	0.000567	T	0.77928	0.4204	M	0.73962	2.25	0.50313	D	0.999866	D	0.62365	0.991	D	0.64321	0.924	T	0.76080	-0.3090	10	0.23891	T	0.37	.	13.4591	0.61217	1.0:0.0:0.0:0.0	.	342	Q9NY57	ST32B_HUMAN	Q	342;265;295	ENSP00000282908:K342Q;ENSP00000423209:K265Q;ENSP00000420984:K295Q	ENSP00000282908:K342Q	K	+	1	0	STK32B	5519445	0.914000	0.31030	0.874000	0.34290	0.090000	0.18270	1.958000	0.40402	1.862000	0.54008	0.472000	0.43445	AAG		0.502	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		3	40	0	0	0	1	0	3	40				
MAS1L	116511	broad.mit.edu	37	6	29454710	29454710	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr6:29454710T>C	ENST00000377127.3	-	1	1028	c.970A>G	c.(970-972)Agg>Ggg	p.R324G		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	324					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R324G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCCTTCAGCCTTTTCTTTCTG	0.463																																					NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.2																			1	Substitution - Missense(1)	p.R324G(2)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(970-972)Agg>Ggg		Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.							94.0	100.0	98.0					6																	29454710		2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454710T>C	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.970A>G	6.37:g.29454710T>C	ENSP00000366331:p.Arg324Gly		Somatic					p.R324G	NM_052967	NP_443199	WXS	Illumina GAIIx	Phase_I	P35410	MAS1L_HUMAN			0	970	-			324					Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.970A>G	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	T	7.400	0.632554	0.14322	.	.	ENSG00000204687	ENST00000377127	T	0.37584	1.19	2.36	-0.36	0.12568	.	.	.	.	.	T	0.14527	0.0351	L	0.39633	1.23	0.09310	N	1	B	0.29378	0.243	B	0.36845	0.234	T	0.38134	-0.9675	9	0.56958	D	0.05	.	8.1955	0.31394	0.0:0.0:0.4246:0.5754	.	324	P35410	MAS1L_HUMAN	G	324	ENSP00000366331:R324G	ENSP00000366331:R324G	R	-	1	2	MAS1L	29562689	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.995000	0.03712	-0.236000	0.09753	-0.612000	0.04053	AGG		0.463	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		3	127	0	0	0	1	0	3	127				
RGL2	5863	broad.mit.edu	37	6	33263171	33263171	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr6:33263171G>A	ENST00000497454.1	-	8	1544	c.1049C>T	c.(1048-1050)tCa>tTa	p.S350L	RGL2_ENST00000444031.2_Missense_Mutation_p.S268L|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	350	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGCATAAACTGAAGAGAAGTT	0.602																																						uc003odv.3																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(1048-1050)tCa>tTa		Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.							30.0	33.0	32.0					6																	33263171		2203	4300	6503	SO:0001583	missense	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33263171G>A		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1049C>T	6.37:g.33263171G>A	ENSP00000420211:p.Ser350Leu		Somatic				RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_5'UTR|RGL2_uc003odw.3_Missense_Mutation_p.S268L|RGL2_uc011drb.2_Missense_Mutation_p.S268L	p.S350L	NM_004761	NP_001230667	WXS	Illumina GAIIx	Phase_I	O15211	RGL2_HUMAN			7	1609	-			350			Ras-GEF.		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	c.1049C>T	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758180	0.69763	.	.	ENSG00000237441	ENST00000497454;ENST00000421215;ENST00000444031	T;T	0.40476	1.03;1.03	5.01	5.01	0.66863	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	M	0.92833	3.35	0.80722	D	1	D;B	0.89917	1.0;0.43	D;B	0.91635	0.999;0.191	T	0.74685	-0.3582	10	0.87932	D	0	.	13.6974	0.62589	0.0:0.0:1.0:0.0	.	268;350	B4DG72;O15211	.;RGL2_HUMAN	L	350;214;268	ENSP00000420211:S350L;ENSP00000403070:S268L	ENSP00000400083:S214L	S	-	2	0	RGL2	33371149	1.000000	0.71417	0.917000	0.36280	0.991000	0.79684	6.544000	0.73878	2.599000	0.87857	0.643000	0.83706	TCA		0.602	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			5	6	0	0	0	1	0	5	6				
OTUB1	55611	broad.mit.edu	37	11	63764532	63764532	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr11:63764532T>C	ENST00000538426.1	+	6	478	c.434T>C	c.(433-435)cTg>cCg	p.L145P	OTUB1_ENST00000428192.2_Missense_Mutation_p.L145P|OTUB1_ENST00000543988.1_Missense_Mutation_p.L115P|OTUB1_ENST00000543004.1_Missense_Mutation_p.L154P|OTUB1_ENST00000422031.2_Missense_Mutation_p.L182P|OTUB1_ENST00000535715.1_Missense_Mutation_p.L145P|OTUB1_ENST00000541478.1_Missense_Mutation_p.L44P	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	145	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						TTCATGGACCTGATTGAGCAG	0.617																																						uc001nyg.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						c.(562-564)cTg>cCg		Homo sapiens OTU domain, ubiquitin aldehyde binding 1 (OTUB1), transcript variant 2, non-coding RNA.							121.0	105.0	111.0					11																	63764532		2201	4297	6498	SO:0001583	missense	55611				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity	g.chr11:63764532T>C	AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"""OTU domain containing"""	23077	protein-coding gene	gene with protein product		608337	"""OTU domain, ubiquitin aldehyde binding 1"""			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.434T>C	11.37:g.63764532T>C	ENSP00000444357:p.Leu145Pro		Somatic				OTUB1_uc001nyf.1_Missense_Mutation_p.L145P|OTUB1_uc010rna.1_Missense_Mutation_p.L154P|OTUB1_uc009ypb.1_Missense_Mutation_p.L115P	p.L188P			WXS	Illumina GAIIx	Phase_I	Q96FW1	OTUB1_HUMAN			4	1246	+			145			OTU.		Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Missense_Mutation	SNP	ENST00000538426.1	37	c.563T>C	CCDS8055.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452811	0.63290	.	.	ENSG00000167770	ENST00000541478;ENST00000535715;ENST00000428192;ENST00000422031;ENST00000538426;ENST00000543004;ENST00000543988	T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71	4.9	4.9	0.64082	Ovarian tumour, otubain (1);	0.082410	0.49916	D	0.000137	T	0.72526	0.3471	M	0.88704	2.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.998	T	0.78135	-0.2322	10	0.62326	D	0.03	.	13.9457	0.64082	0.0:0.0:0.0:1.0	.	182;44;189;145	B4DPD5;F5H3F0;Q96FW1-2;Q96FW1	.;.;.;OTUB1_HUMAN	P	44;145;145;182;145;154;115	ENSP00000439142:L44P;ENSP00000440211:L145P;ENSP00000402551:L145P;ENSP00000416973:L182P;ENSP00000444357:L145P;ENSP00000437453:L154P;ENSP00000441328:L115P	ENSP00000416973:L182P	L	+	2	0	OTUB1	63521108	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	5.853000	0.69496	2.196000	0.70406	0.533000	0.62120	CTG		0.617	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396277.1	NM_017670		3	84	0	0	0	1	0	3	84				
TEAD4	7004	broad.mit.edu	37	12	3127744	3127744	+	Missense_Mutation	SNP	A	A	T			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr12:3127744A>T	ENST00000397122.2	+	5	415	c.130A>T	c.(130-132)Acg>Tcg	p.T44S	TEAD4_ENST00000358409.2_Missense_Mutation_p.T130S|TEAD4_ENST00000359864.2_Missense_Mutation_p.T173S	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	173					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CCAAGCCGGAACGTCCCATGA	0.582																																						uc010sej.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(517-519)Acg>Tcg		Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.							125.0	109.0	114.0					12																	3127744		2203	4300	6503	SO:0001583	missense	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3127744A>T	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.130A>T	12.37:g.3127744A>T	ENSP00000380311:p.Thr44Ser		Somatic				TEAD4_uc010sek.2_Missense_Mutation_p.T130S|TEAD4_uc001qln.3_Missense_Mutation_p.T44S	p.T173S	NM_201443	NP_958851	WXS	Illumina GAIIx	Phase_I	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		6	809	+	Ovarian(42;0.211)		173					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	ENST00000397122.2	37	c.517A>T	CCDS41737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.600|7.600	0.672587|0.672587	0.14776|0.14776	.|.	.|.	ENSG00000197905|ENSG00000197905	ENST00000544666|ENST00000358409;ENST00000359864;ENST00000543035;ENST00000397122	.|T;T;T	.|0.29397	.|1.57;1.57;1.57	5.36|5.36	1.42|1.42	0.22433|0.22433	.|.	.|0.489617	.|0.22311	.|N	.|0.061729	T|T	0.10380|0.10380	0.0254|0.0254	N|N	0.10837|0.10837	0.055|0.055	0.27204|0.27204	N|N	0.960085|0.960085	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.22977|0.22977	-1.0201|-1.0201	6|10	0.87932|0.07325	D|T	0|0.83	-1.2787|-1.2787	1.5158|1.5158	0.02506|0.02506	0.5249:0.1429:0.0893:0.243|0.5249:0.1429:0.0893:0.243	.|.	.|173	.|Q15561	.|TEAD4_HUMAN	I|S	95|130;173;173;44	.|ENSP00000351184:T130S;ENSP00000352926:T173S;ENSP00000380311:T44S	ENSP00000411475:N108I|ENSP00000351184:T130S	N|T	+|+	2|1	0|0	TEAD4|TEAD4	2998005|2998005	0.749000|0.749000	0.28305|0.28305	0.972000|0.972000	0.41901|0.41901	0.944000|0.944000	0.59088|0.59088	0.730000|0.730000	0.26043|0.26043	0.326000|0.326000	0.23384|0.23384	0.533000|0.533000	0.62120|0.62120	AAC|ACG		0.582	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213		18	45	0	0	0	1	0	18	45				
TLR4	7099	broad.mit.edu	37	9	120475419	120475419	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr9:120475419T>C	ENST00000355622.6	+	3	1114	c.1013T>C	c.(1012-1014)gTt>gCt	p.V338A	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.V298A	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	338					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TTAGAATTAGTTAACTGTAAA	0.338																																						uc004bjz.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(1012-1014)gTt>gCt		Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.							58.0	65.0	63.0					9																	120475419		2202	4300	6502	SO:0001583	missense	7099				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475419T>C	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1013T>C	9.37:g.120475419T>C	ENSP00000363089:p.Val338Ala		Somatic				TLR4_uc004bkb.3_Missense_Mutation_p.V138A|TLR4_uc004bka.3_Missense_Mutation_p.V298A	p.V338A	NM_138554	NP_612564	WXS	Illumina GAIIx	Phase_I	O00206	TLR4_HUMAN			2	1304	+			338					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.1013T>C	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.417180	0.25552	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.20598	2.06;2.06	5.78	-1.28	0.09318	.	1.527470	0.03523	N	0.221283	T	0.20861	0.0502	L	0.50333	1.59	0.09310	N	1	B	0.28850	0.225	B	0.33392	0.163	T	0.31475	-0.9942	10	0.37606	T	0.19	.	4.7753	0.13176	0.238:0.406:0.0:0.356	.	338	O00206	TLR4_HUMAN	A	298;338	ENSP00000377997:V298A;ENSP00000363089:V338A	ENSP00000363089:V338A	V	+	2	0	TLR4	119515240	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.573000	0.23699	0.092000	0.17331	0.533000	0.62120	GTT		0.338	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		14	60	0	0	0	1	0	14	60				
TUBB4B	10383	broad.mit.edu	37	9	140137041	140137041	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr9:140137041C>G	ENST00000340384.4	+	4	519	c.371C>G	c.(370-372)gCt>gGt	p.A124G		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	124					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	AGAAAGGAGGCTGAGAGCTGT	0.617																																						uc004cmh.1																			0											c.(370-372)gCt>gGt		Homo sapiens tubulin, beta 4B class IVb (TUBB4B), mRNA.							74.0	74.0	74.0					9																	140137041		2203	4300	6503	SO:0001583	missense	10383				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|cellular component movement|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding	g.chr9:140137041C>G	BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.371C>G	9.37:g.140137041C>G	ENSP00000341289:p.Ala124Gly		Somatic				TUBB4B_uc004cmg.1_5'UTR	p.A124G	NM_006088	NP_006079	WXS	Illumina GAIIx	Phase_I	P68371	TBB2C_HUMAN			3	473	+			124					A2BFA2|P05217	Missense_Mutation	SNP	ENST00000340384.4	37	c.371C>G	CCDS7039.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503458	0.44558	.	.	ENSG00000188229	ENST00000340384	T	0.71222	-0.55	5.07	4.11	0.48088	.	0.202562	0.29653	N	0.011542	D	0.86138	0.5861	H	0.98951	4.38	0.54753	D	0.999982	B	0.30211	0.273	B	0.42593	0.392	D	0.89167	0.3534	10	0.87932	D	0	.	13.0161	0.58757	0.1618:0.8382:0.0:0.0	.	124	P68371	TBB4B_HUMAN	G	124	ENSP00000341289:A124G	ENSP00000341289:A124G	A	+	2	0	TUBB2C	139256862	0.995000	0.38212	0.982000	0.44146	0.990000	0.78478	3.243000	0.51392	2.359000	0.80004	0.655000	0.94253	GCT		0.617	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		26	46	0	0	0	1	0	26	46				
DOK6	220164	broad.mit.edu	37	18	67231729	67231729	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr18:67231729delA	ENST00000382713.5	+	2	263	c.73delA	c.(73-75)agafs	p.R26fs	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	26	PH.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TCAGATTTTCAGACGATGCTG	0.328																																						uc002lkl.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(73-75)agafs		Homo sapiens docking protein 6 (DOK6), mRNA.							80.0	79.0	79.0					18																	67231729		2203	4300	6503	SO:0001589	frameshift_variant	220164						insulin receptor binding	g.chr18:67231729delA	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.73delA	18.37:g.67231729delA	ENSP00000372160:p.Arg26fs		Somatic					p.R25fs	NM_152721	NP_689934	WXS	Illumina GAIIx	Phase_I	Q6PKX4	DOK6_HUMAN			1	270	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	25			PH.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Frame_Shift_Del	DEL	ENST00000382713.5	37	c.73delA	CCDS32841.1																																																																																				0.328	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		18	23						18	23	---	---	---	---
