#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AJAP1	55966	broad.mit.edu	37	1	4772618	4772618	+	Missense_Mutation	SNP	A	A	G			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr1:4772618A>G	ENST00000378191.4	+	2	1069	c.688A>G	c.(688-690)Acg>Gcg	p.T230A	AJAP1_ENST00000378190.3_Missense_Mutation_p.T230A	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	230	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		cacccccaTGACGCTGCAGAC	0.617																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(688-690)Acg>Gcg		adherens junctions associated protein 1							38.0	38.0	38.0					1																	4772618		2202	4299	6501	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772618A>G	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.688A>G	1.37:g.4772618A>G	ENSP00000367433:p.Thr230Ala		Somatic				AJAP1_ENST00000378190.3_Missense_Mutation_p.T230A	p.T230A	NM_018836.3	NP_061324.1	WXS	Illumina GAIIx	Phase_I	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	1069	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	230			Thr-rich.		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.688A>G	CCDS54.1	.	.	.	.	.	.	.	.	.	.	A	5.603	0.295997	0.10622	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.56941	0.43;0.43	5.35	-0.175	0.13315	.	0.255013	0.30809	N	0.008838	T	0.29684	0.0741	L	0.27053	0.805	0.20638	N	0.999874	B	0.14805	0.011	B	0.18263	0.021	T	0.06789	-1.0807	10	0.33940	T	0.23	-6.7891	1.596	0.02664	0.4819:0.1484:0.0832:0.2864	.	230	Q9UKB5	AJAP1_HUMAN	A	230	ENSP00000367432:T230A;ENSP00000367433:T230A	ENSP00000367432:T230A	T	+	1	0	AJAP1	4672478	0.977000	0.34250	0.060000	0.19600	0.840000	0.47671	2.464000	0.45067	0.005000	0.14708	0.383000	0.25322	ACG		0.617	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		23	13	23	13	---	---	---	---
METTL13	51603	broad.mit.edu	37	1	171761209	171761209	+	Silent	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr1:171761209C>T	ENST00000361735.3	+	6	1793	c.1527C>T	c.(1525-1527)ctC>ctT	p.L509L	METTL13_ENST00000362019.3_Silent_p.L423L|METTL13_ENST00000367737.5_Silent_p.L353L|METTL13_ENST00000458517.1_Silent_p.L508L|METTL13_ENST00000466643.1_3'UTR	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	509							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GCCTCCCCCTCTTTGTCCACG	0.527																																						ENST00000361735.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(1525-1527)ctC>ctT		methyltransferase like 13							132.0	119.0	123.0					1																	171761209		2203	4300	6503	SO:0001819	synonymous_variant	51603						methyltransferase activity|protein binding	g.chr1:171761209C>T	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1527C>T	1.37:g.171761209C>T			Somatic				METTL13_ENST00000362019.3_Silent_p.L423L|METTL13_ENST00000458517.1_Silent_p.L508L|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000367737.5_Silent_p.L353L	p.L509L	NM_015935.4	NP_057019.3	WXS	Illumina GAIIx	Phase_I	Q8N6R0	MTL13_HUMAN			6	1793	+			509					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	c.1527C>T	CCDS1299.1																																																																																				0.527	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		48	70	48	70	---	---	---	---
MDM4	4194	broad.mit.edu	37	1	204501935	204501935	+	Intron	SNP	G	G	C			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr1:204501935G>C	ENST00000367182.3	+	5	505				MDM4_ENST00000367180.1_Missense_Mutation_p.E128Q|MDM4_ENST00000391947.2_Intron|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000454264.2_Intron|MDM4_ENST00000463049.1_Intron|MDM4_ENST00000367183.3_Intron	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator						cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ccacgctctagagttggcaga	0.313			A		"""GBM, bladder, retinoblastoma"""																																	ENST00000367180.1				Dom	yes		1	1q32	4194	A	Mdm4 p53 binding protein homolog			M			"""GBM, bladder, retinoblastoma"""		0				central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(382-384)Gag>Cag		Mdm4 p53 binding protein homolog (mouse)							138.0	141.0	140.0					1																	204501935		876	1991	2867	SO:0001627	intron_variant	4194				apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding	g.chr1:204501935G>C	AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"""mouse double minute 4, human homolog of; p53-binding protein"", ""Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)"", ""Mdm4 p53 binding protein homolog (mouse)"""			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	ENST00000367182.3:c.343+561G>C	1.37:g.204501935G>C			Somatic				MDM4_ENST00000367182.3_Intron|MDM4_ENST00000463049.1_Intron|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000391947.2_Intron|MDM4_ENST00000454264.2_Intron	p.E128Q			WXS	Illumina GAIIx	Phase_I	O15151	MDM4_HUMAN	GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)		5	411	+	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		0					Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Missense_Mutation	SNP	ENST00000367182.3	37	c.382G>C	CCDS1447.1	.	.	.	.	.	.	.	.	.	.	G	3.800	-0.041862	0.07452	.	.	ENSG00000198625	ENST00000367180	.	.	.	3.62	1.71	0.24356	.	.	.	.	.	T	0.39410	0.1077	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.33548	-0.9864	5	0.62326	D	0.03	.	6.0051	0.19541	0.2409:0.0:0.7591:0.0	.	.	.	.	Q	128	.	ENSP00000356148:E128Q	E	+	1	0	MDM4	202768558	0.002000	0.14202	0.033000	0.17914	0.079000	0.17450	0.338000	0.19858	0.506000	0.28125	0.655000	0.94253	GAG		0.313	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087415.2	NM_002393		44	68	44	68	---	---	---	---
IL1B	3553	broad.mit.edu	37	2	113593795	113593795	+	Silent	SNP	T	T	C			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr2:113593795T>C	ENST00000263341.2	-	2	222	c.12A>G	c.(10-12)gtA>gtG	p.V4V	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	4					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|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 prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	CGAGCTCAGGTACTTCTGCCA	0.473																																						ENST00000263341.2																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12						c.(10-12)gtA>gtG		interleukin 1, beta	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						106.0	92.0	97.0					2																	113593795		2203	4300	6503	SO:0001819	synonymous_variant	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113593795T>C	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.12A>G	2.37:g.113593795T>C			Somatic				IL1B_ENST00000491056.1_5'UTR	p.V4V	NM_000576.2	NP_000567.1	WXS	Illumina GAIIx	Phase_I	P01584	IL1B_HUMAN			2	222	-			4					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Silent	SNP	ENST00000263341.2	37	c.12A>G	CCDS2102.1																																																																																				0.473	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		41	54	41	54	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138413129	138413129	+	Missense_Mutation	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr2:138413129G>A	ENST00000409968.1	+	22	4182	c.4004G>A	c.(4003-4005)gGt>gAt	p.G1335D	THSD7B_ENST00000413152.2_Missense_Mutation_p.G1307D|THSD7B_ENST00000272643.3_Missense_Mutation_p.G1338D|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1337	TSP type-1 17. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTCCACAGTGGTTCAATATCT	0.502																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(4003-4005)gGt>gAt		thrombospondin, type I, domain containing 7B							93.0	93.0	93.0					2																	138413129		2091	4230	6321	SO:0001583	missense	80731							g.chr2:138413129G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4004G>A	2.37:g.138413129G>A	ENSP00000387145:p.Gly1335Asp		Somatic				THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.G1338D|THSD7B_ENST00000413152.2_Missense_Mutation_p.G1307D	p.G1335D			WXS	Illumina GAIIx	Phase_I				BRCA - Breast invasive adenocarcinoma(221;0.19)	22	4182	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.4004G>A		.	.	.	.	.	.	.	.	.	.	G	14.88	2.667190	0.47677	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.61510	0.1;0.1;0.1	5.26	3.34	0.38264	.	0.229429	0.44285	D	0.000468	T	0.68778	0.3038	L	0.61218	1.895	0.80722	D	1	D	0.62365	0.991	P	0.61070	0.883	T	0.69694	-0.5076	10	0.35671	T	0.21	.	15.3785	0.74633	0.0:0.4025:0.5975:0.0	.	1307	C9JKN6	.	D	1335;1338;1307	ENSP00000387145:G1335D;ENSP00000272643:G1338D;ENSP00000413841:G1307D	ENSP00000272643:G1338D	G	+	2	0	THSD7B	138129599	1.000000	0.71417	0.768000	0.31515	0.276000	0.26787	3.222000	0.51223	1.407000	0.46875	0.650000	0.86243	GGT		0.502	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		9	15	9	15	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38763822	38763822	+	Missense_Mutation	SNP	C	C	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr3:38763822C>A	ENST00000449082.2	-	19	3433	c.3434G>T	c.(3433-3435)tGc>tTc	p.C1145F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1145					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GATACGGTAGCAAGTCTTGCG	0.567																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3433-3435)tGc>tTc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						167.0	137.0	148.0					3																	38763822		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38763822C>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3434G>T	3.37:g.38763822C>A	ENSP00000390600:p.Cys1145Phe		Somatic					p.C1145F	NM_006514.2	NP_006505.2	WXS	Illumina GAIIx	Phase_I	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	19	3433	-			1145					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3434G>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290289	0.80914	.	.	ENSG00000185313	ENST00000449082	D	0.88586	-2.4	4.27	4.27	0.50696	Sodium ion transport-associated (1);	0.000000	0.85682	D	0.000000	D	0.95017	0.8387	M	0.87617	2.895	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	D	0.96021	0.9009	10	0.87932	D	0	.	16.8955	0.86099	0.0:1.0:0.0:0.0	.	1145	Q9Y5Y9	SCNAA_HUMAN	F	1145	ENSP00000390600:C1145F	ENSP00000390600:C1145F	C	-	2	0	SCN10A	38738826	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.651000	0.83577	2.221000	0.72209	0.561000	0.74099	TGC		0.567	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		43	57	43	57	---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194146084	194146084	+	Silent	SNP	A	A	G			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr3:194146084A>G	ENST00000439040.1	-	30	4091	c.3300T>C	c.(3298-3300)ccT>ccC	p.P1100P	ATP13A3_ENST00000256031.4_Silent_p.P1100P			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1100						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTTTGTAGCAAGGTTGCCTGA	0.338																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(3298-3300)ccT>ccC		ATPase type 13A3							94.0	88.0	90.0					3																	194146084		1828	4077	5905	SO:0001819	synonymous_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194146084A>G	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3300T>C	3.37:g.194146084A>G			Somatic				ATP13A3_ENST00000256031.4_Silent_p.P1100P	p.P1100P			WXS	Illumina GAIIx	Phase_I	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	30	4091	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	1100					Q8NC11|Q96KS1	Silent	SNP	ENST00000439040.1	37	c.3300T>C	CCDS43187.1																																																																																				0.338	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		20	43	20	43	---	---	---	---
EGF	1950	broad.mit.edu	37	4	110864507	110864507	+	Missense_Mutation	SNP	T	T	G			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr4:110864507T>G	ENST00000265171.5	+	3	870	c.425T>G	c.(424-426)gTa>gGa	p.V142G	EGF_ENST00000509793.1_Missense_Mutation_p.V142G|EGF_ENST00000503392.1_Missense_Mutation_p.V142G|EGF_ENST00000502723.1_3'UTR	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	142					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	ATCATTACAGTAACAGATATG	0.313																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(424-426)gTa>gGa		epidermal growth factor	Sulindac(DB00605)						79.0	83.0	81.0					4																	110864507		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110864507T>G	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.425T>G	4.37:g.110864507T>G	ENSP00000265171:p.Val142Gly		Somatic				EGF_ENST00000509793.1_Missense_Mutation_p.V142G|EGF_ENST00000503392.1_Missense_Mutation_p.V142G|EGF_ENST00000502723.1_3'UTR	p.V142G	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	WXS	Illumina GAIIx	Phase_I	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	3	870	+		Hepatocellular(203;0.0893)	142					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.425T>G	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.477818	0.44044	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;T;T	0.28895	1.59;1.59;1.59	5.6	4.22	0.49857	Six-bladed beta-propeller, TolB-like (1);	0.466144	0.26769	N	0.022586	T	0.41096	0.1144	M	0.80746	2.51	0.45066	D	0.998087	P;D;P	0.53151	0.93;0.958;0.882	B;P;B	0.48921	0.391;0.595;0.391	T	0.44937	-0.9295	10	0.72032	D	0.01	.	7.7074	0.28659	0.0:0.1533:0.0:0.8467	.	142;142;142	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	G	142	ENSP00000424316:V142G;ENSP00000265171:V142G;ENSP00000421384:V142G	ENSP00000265171:V142G	V	+	2	0	EGF	111083956	0.968000	0.33430	0.998000	0.56505	0.997000	0.91878	1.384000	0.34396	2.133000	0.65898	0.528000	0.53228	GTA		0.313	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			58	76	58	76	---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138453022	138453022	+	Missense_Mutation	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr4:138453022G>A	ENST00000344876.4	-	1	607	c.221C>T	c.(220-222)tCt>tTt	p.S74F	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.S74F|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	74	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AAGTAGAGGAGAATTTCCCCT	0.428																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(220-222)tCt>tTt		protocadherin 18							148.0	145.0	146.0					4																	138453022		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138453022G>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.221C>T	4.37:g.138453022G>A	ENSP00000355082:p.Ser74Phe		Somatic				PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.S74F	p.S74F	NM_019035.3	NP_061908.1	WXS	Illumina GAIIx	Phase_I	Q9HCL0	PCD18_HUMAN			1	607	-	all_hematologic(180;0.24)		74			Cadherin 1.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.221C>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.918376	0.52546	.	.	ENSG00000189184	ENST00000344876;ENST00000412923	T;T	0.28454	1.61;1.61	5.56	4.72	0.59763	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.349077	0.20667	U	0.087915	T	0.46092	0.1375	M	0.64997	1.995	0.80722	D	1	P;P	0.42203	0.659;0.773	P;P	0.52267	0.694;0.678	T	0.43048	-0.9415	10	0.59425	D	0.04	.	14.1569	0.65424	0.0716:0.0:0.9284:0.0	.	74;74	Q9HCL0-2;Q9HCL0	.;PCD18_HUMAN	F	74	ENSP00000355082:S74F;ENSP00000390688:S74F	ENSP00000355082:S74F	S	-	2	0	PCDH18	138672472	1.000000	0.71417	0.681000	0.30009	0.064000	0.16182	2.381000	0.44336	1.351000	0.45789	0.555000	0.69702	TCT		0.428	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		4	146	4	146	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21802288	21802288	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr5:21802288C>T	ENST00000382254.1	-	10	2330	c.1244G>A	c.(1243-1245)aGc>aAc	p.S415N	CDH12_ENST00000522262.1_Missense_Mutation_p.S375N|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.S415N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	415	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AACAGCACTGCTGCCTACATC	0.433										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1243-1245)aGc>aAc		cadherin 12, type 2 (N-cadherin 2)							84.0	66.0	72.0					5																	21802288		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21802288C>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1244G>A	5.37:g.21802288C>T	ENSP00000371689:p.Ser415Asn	HNSCC(59;0.17)	Somatic				CDH12_ENST00000504376.2_Missense_Mutation_p.S415N|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.S375N	p.S415N	NM_004061.3	NP_004052.2	WXS	Illumina GAIIx	Phase_I	P55289	CAD12_HUMAN			10	2330	-			415			Cadherin 4.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1244G>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	4.644	0.119804	0.08881	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.37235	1.21;1.21;1.21	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	0.162599	0.64402	D	0.000003	T	0.16342	0.0393	N	0.03294	-0.36	0.42174	D	0.991652	B;B	0.12013	0.001;0.005	B;B	0.14578	0.009;0.011	T	0.12344	-1.0551	10	0.02654	T	1	.	15.5979	0.76602	0.0:0.8631:0.1369:0.0	.	375;415	B7Z2U6;P55289	.;CAD12_HUMAN	N	415;415;375	ENSP00000423577:S415N;ENSP00000371689:S415N;ENSP00000428786:S375N	ENSP00000371689:S415N	S	-	2	0	CDH12	21838045	0.995000	0.38212	0.976000	0.42696	0.916000	0.54674	1.463000	0.35277	2.765000	0.95021	0.655000	0.94253	AGC		0.433	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		39	32	39	32	---	---	---	---
RAB24	53917	broad.mit.edu	37	5	176728925	176728925	+	Splice_Site	SNP	C	C	G			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr5:176728925C>G	ENST00000303251.6	-	7	967		c.e7+1		PRELID1_ENST00000503216.1_5'Flank|PRELID1_ENST00000303204.4_5'Flank|RAB24_ENST00000393611.2_Splice_Site|RAB24_ENST00000303270.6_Splice_Site	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family						autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.?(1)				all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGCACACACCTGTCATCAC	0.537																																						ENST00000303270.6																			1	Unknown(1)	p.?(1)	kidney(1)								c.e6+1		RAB24, member RAS oncogene family							122.0	121.0	121.0					5																	176728925		2203	4300	6503	SO:0001630	splice_region_variant	53917				autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding	g.chr5:176728925C>G	AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"""RAB, member RAS oncogene"""	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.547+1G>C	5.37:g.176728925C>G			Somatic				RAB24_ENST00000393611.2_Splice_Site|RAB24_ENST00000303251.6_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q969Q5	RAB24_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1063	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)						Q7Z4Z7	Splice_Site	SNP	ENST00000303251.6	37		CCDS34300.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620257	0.66787	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7856	0.88536	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAB24	176661531	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.920000	0.75799	2.432000	0.82394	0.561000	0.74099	.		0.537	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	NM_130781	Intron	29	44	29	44	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142479980	142479980	+	RNA	SNP	C	C	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr7:142479980C>A	ENST00000603901.1	+	0	112					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGTCCCCTACCAGGTGTCCTT	0.552																																						ENST00000603901.1																			0																				96.0	72.0	79.0					7																	142479980		692	1591	2283			154754							g.chr7:142479980C>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142479980C>A			Somatic						NR_001296.3		WXS	Illumina GAIIx	Phase_I					0	112	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.552	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		63	131	63	131	---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95507178	95507178	+	Silent	SNP	G	G	C			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr8:95507178G>C	ENST00000297591.5	-	20	4626	c.4551C>G	c.(4549-4551)gcC>gcG	p.A1517A	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1517					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CAAGCACATAGGCAGTCCTGG	0.368																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4549-4551)gcC>gcG		KIAA1429							114.0	119.0	117.0					8																	95507178		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95507178G>C	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4551C>G	8.37:g.95507178G>C			Somatic				KIAA1429_ENST00000437199.1_3'UTR	p.A1517A	NM_015496.4	NP_056311.2	WXS	Illumina GAIIx	Phase_I	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		20	4626	-	Breast(36;3.29e-05)		1517					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.4551C>G	CCDS34923.1																																																																																				0.368	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		7	213	7	213	---	---	---	---
KANK1	23189	broad.mit.edu	37	9	731264	731264	+	Silent	SNP	A	A	C			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr9:731264A>C	ENST00000382303.1	+	9	3655	c.3003A>C	c.(3001-3003)ggA>ggC	p.G1001G	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.G843G|KANK1_ENST00000382297.2_Silent_p.G1001G	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1001					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCATTAATGGAGGGTAAGGAA	0.438																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3001-3003)ggA>ggC		KN motif and ankyrin repeat domains 1							119.0	110.0	113.0					9																	731264		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:731264A>C	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3003A>C	9.37:g.731264A>C			Somatic				KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.G843G|KANK1_ENST00000382297.2_Silent_p.G1001G	p.G1001G	NM_001256876.1	NP_001243805.1	WXS	Illumina GAIIx	Phase_I	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	9	3655	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1001					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3003A>C	CCDS34976.1																																																																																				0.438	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		11	24	11	24	---	---	---	---
USP20	10868	broad.mit.edu	37	9	132630711	132630711	+	Missense_Mutation	SNP	G	G	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr9:132630711G>T	ENST00000315480.4	+	11	1276	c.1118G>T	c.(1117-1119)aGc>aTc	p.S373I	USP20_ENST00000358355.1_Missense_Mutation_p.S373I|USP20_ENST00000372429.3_Missense_Mutation_p.S373I			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	373	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CGGTCCTCCAGCCCCTGCCGG	0.682																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(1117-1119)aGc>aTc		ubiquitin specific peptidase 20							21.0	24.0	23.0					9																	132630711		1985	4100	6085	SO:0001583	missense	10868				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132630711G>T	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1118G>T	9.37:g.132630711G>T	ENSP00000313811:p.Ser373Ile		Somatic				USP20_ENST00000372429.3_Missense_Mutation_p.S373I|USP20_ENST00000358355.1_Missense_Mutation_p.S373I	p.S373I			WXS	Illumina GAIIx	Phase_I	Q9Y2K6	UBP20_HUMAN			11	1276	+		Ovarian(14;0.00556)	373					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.1118G>T	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904683	0.33628	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.17054	2.3;2.3;2.3	5.25	5.25	0.73442	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	2.363990	0.01152	N	0.006444	T	0.18341	0.0440	N	0.11201	0.11	0.51767	D	0.999933	P	0.50369	0.934	P	0.47864	0.559	T	0.34601	-0.9822	10	0.16896	T	0.51	.	16.0111	0.80404	0.0:0.0:1.0:0.0	.	373	Q9Y2K6	UBP20_HUMAN	I	373	ENSP00000361506:S373I;ENSP00000313811:S373I;ENSP00000351122:S373I	ENSP00000313811:S373I	S	+	2	0	USP20	131670532	1.000000	0.71417	0.997000	0.53966	0.018000	0.09664	6.255000	0.72466	2.459000	0.83118	0.561000	0.74099	AGC		0.682	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			3	43	3	43	---	---	---	---
CTSC	1075	broad.mit.edu	37	11	88068157	88068157	+	Missense_Mutation	SNP	T	T	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr11:88068157T>A	ENST00000227266.5	-	2	380	c.266A>T	c.(265-267)aAc>aTc	p.N89I	CTSC_ENST00000524463.1_Missense_Mutation_p.N89I|CTSC_ENST00000393301.4_5'UTR|CTSC_ENST00000529974.1_Missense_Mutation_p.N89I	NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	89					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAGCCTTGGTTGTAAATGAT	0.363																																						ENST00000524463.1																			0				large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22						c.(265-267)aAc>aTc		cathepsin C							131.0	121.0	125.0					11																	88068157		2201	4299	6500	SO:0001583	missense	1075				immune response	lysosome	cysteine-type endopeptidase activity	g.chr11:88068157T>A	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.266A>T	11.37:g.88068157T>A	ENSP00000227266:p.Asn89Ile		Somatic				CTSC_ENST00000227266.5_Missense_Mutation_p.N89I|CTSC_ENST00000529974.1_Missense_Mutation_p.N89I|CTSC_ENST00000393301.4_5'UTR	p.N89I	NM_001114173.1|NM_148170.3	NP_001107645.1|NP_680475.1	WXS	Illumina GAIIx	Phase_I	P53634	CATC_HUMAN			2	354	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	89					A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	ENST00000227266.5	37	c.266A>T	CCDS8282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.9|27.9	4.870067|4.870067	0.91587|0.91587	.|.	.|.	ENSG00000109861|ENSG00000109861	ENST00000393302;ENST00000227266;ENST00000524463;ENST00000529974|ENST00000527018	D;D;D|.	0.92249|.	-3.0;-3.0;-3.0|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Cathepsin C exclusion (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78188|0.78188	0.4244|0.4244	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.87578|.	0.996;0.982;0.998|.	T|T	0.80522|0.80522	-0.1345|-0.1345	9|5	.|.	.|.	.|.	.|.	13.7534|13.7534	0.62921|0.62921	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	89;89;89|.	Q2HIY8;P53634-2;P53634|.	.;.;CATC_HUMAN|.	I|S	72;89;89;89|46	ENSP00000227266:N89I;ENSP00000432541:N89I;ENSP00000433539:N89I|.	.|.	N|T	-|-	2|1	0|0	CTSC|CTSC	87707805|87707805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.097000|7.097000	0.76967|0.76967	2.228000|2.228000	0.72767|0.72767	0.533000|0.533000	0.62120|0.62120	AAC|ACC		0.363	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		29	31	29	31	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13716213	13716213	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr12:13716213C>T	ENST00000609686.1	-	13	4168	c.3959G>A	c.(3958-3960)cGc>cAc	p.R1320H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1320					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTTACGCTGCGCGGGGCCAG	0.582																																						ENST00000609686.1																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3958-3960)cGc>cAc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						68.0	75.0	73.0					12																	13716213		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716213C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3959G>A	12.37:g.13716213C>T	ENSP00000477455:p.Arg1320His		Somatic					p.R1320H	NM_000834.3	NP_000825.2	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			13	4168	-								Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3959G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956710	0.73902	.	.	ENSG00000150086	ENST00000279593	T	0.45276	0.9	4.81	4.81	0.61882	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66748	-0.5845	10	0.87932	D	0	.	18.436	0.90646	0.0:1.0:0.0:0.0	.	1320	Q13224	NMDE2_HUMAN	H	1320	ENSP00000279593:R1320H	ENSP00000279593:R1320H	R	-	2	0	GRIN2B	13607480	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.273000	0.78527	2.637000	0.89404	0.563000	0.77884	CGC		0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			49	48	49	48	---	---	---	---
TWF1	5756	broad.mit.edu	37	12	44190803	44190803	+	Missense_Mutation	SNP	T	T	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr12:44190803T>A	ENST00000395510.2	-	8	987	c.858A>T	c.(856-858)caA>caT	p.Q286H	TWF1_ENST00000325127.4_Missense_Mutation_p.Q320H|TWF1_ENST00000552521.1_Missense_Mutation_p.Q188H|TWF1_ENST00000548315.1_Missense_Mutation_p.Q293H	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	286	ADF-H 2. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		CCATTTGTAGTTGTCTTTCTA	0.338																																						ENST00000395510.2																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14						c.(856-858)caA>caT		twinfilin actin-binding protein 1							81.0	86.0	84.0					12																	44190803		2203	4299	6502	SO:0001583	missense	5756					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity	g.chr12:44190803T>A	U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"""protein tyrosine kinase 9"", ""PTK9 protein tyrosine kinase 9"", ""twinfilin, actin-binding protein, homolog 1 (Drosophila)"""	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.858A>T	12.37:g.44190803T>A	ENSP00000378886:p.Gln286His		Somatic				TWF1_ENST00000548315.1_Missense_Mutation_p.Q293H|TWF1_ENST00000325127.4_Missense_Mutation_p.Q320H|TWF1_ENST00000552521.1_Missense_Mutation_p.Q188H	p.Q286H	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	WXS	Illumina GAIIx	Phase_I	Q12792	TWF1_HUMAN		GBM - Glioblastoma multiforme(48;0.0474)	8	987	-	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)	286			ADF-H 2.		A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Missense_Mutation	SNP	ENST00000395510.2	37	c.858A>T	CCDS31780.2	.	.	.	.	.	.	.	.	.	.	T	10.81	1.455211	0.26161	.	.	ENSG00000151239	ENST00000552521;ENST00000395510;ENST00000325127;ENST00000548315	T;T;T;T	0.32515	1.45;2.2;2.19;2.2	5.55	1.81	0.25067	Actin-binding, cofilin/tropomyosin type (3);	0.604283	0.18655	N	0.134881	T	0.19087	0.0458	N	0.12746	0.255	0.38505	D	0.948326	B;B	0.30114	0.227;0.269	B;B	0.37267	0.245;0.194	T	0.10753	-1.0616	10	0.35671	T	0.21	-21.4054	9.3144	0.37926	0.0:0.3823:0.0:0.6177	.	293;286	Q12792-3;Q12792	.;TWF1_HUMAN	H	188;286;320;293	ENSP00000448750:Q188H;ENSP00000378886:Q286H;ENSP00000321058:Q320H;ENSP00000449428:Q293H	ENSP00000321058:Q320H	Q	-	3	2	TWF1	42477070	0.005000	0.15991	0.999000	0.59377	0.994000	0.84299	-1.188000	0.03064	0.069000	0.16605	0.482000	0.46254	CAA		0.338	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822		31	36	31	36	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78415542	78415542	+	Missense_Mutation	SNP	T	T	A	rs200251820	byFrequency	TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr12:78415542T>A	ENST00000397909.2	+	9	2096	c.1923T>A	c.(1921-1923)aaT>aaA	p.N641K	NAV3_ENST00000228327.6_Missense_Mutation_p.N641K|NAV3_ENST00000266692.7_Missense_Mutation_p.N641K|NAV3_ENST00000536525.2_Missense_Mutation_p.N641K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	641						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTCAGAAAATGAAGGTACCG	0.388										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1921-1923)aaT>aaA		neuron navigator 3							100.0	100.0	100.0					12																	78415542		1986	4183	6169	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78415542T>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1923T>A	12.37:g.78415542T>A	ENSP00000381007:p.Asn641Lys	HNSCC(70;0.22)	Somatic				NAV3_ENST00000536525.2_Missense_Mutation_p.N641K|NAV3_ENST00000266692.7_Missense_Mutation_p.N641K|NAV3_ENST00000228327.6_Missense_Mutation_p.N641K	p.N641K			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			9	2096	+			641					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1923T>A		.	.	.	.	.	.	.	.	.	.	T	17.32	3.359343	0.61403	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	5.46	5.46	0.80206	.	0.000000	0.42821	U	0.000655	T	0.15305	0.0369	L	0.46157	1.445	0.80722	D	1	D;P	0.53151	0.958;0.59	B;B	0.42692	0.395;0.187	T	0.04678	-1.0934	10	0.25751	T	0.34	-15.8882	15.5544	0.76180	0.0:0.0:0.0:1.0	.	641;641	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	K	641	ENSP00000446628:N641K;ENSP00000446132:N641K;ENSP00000381007:N641K;ENSP00000228327:N641K;ENSP00000266692:N641K	ENSP00000228327:N641K	N	+	3	2	NAV3	76939673	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.128000	0.50492	2.083000	0.62718	0.533000	0.62120	AAT		0.388	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		4	91	4	91	---	---	---	---
PSMB11	122706	broad.mit.edu	37	14	23511486	23511486	+	Missense_Mutation	SNP	T	T	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr14:23511486T>A	ENST00000408907.2	+	1	111	c.52T>A	c.(52-54)Tca>Aca	p.S18T		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	18					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CCAGGGACCATCACCTCACCT	0.622																																						ENST00000408907.2																			0				endometrium(1)|kidney(2)|lung(4)	7						c.(52-54)Tca>Aca		proteasome (prosome, macropain) subunit, beta type, 11							76.0	87.0	83.0					14																	23511486		2094	4218	6312	SO:0001583	missense	122706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr14:23511486T>A		CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.52T>A	14.37:g.23511486T>A	ENSP00000386212:p.Ser18Thr		Somatic					p.S18T	NM_001099780.1	NP_001093250.1	WXS	Illumina GAIIx	Phase_I	A5LHX3	PSB11_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	111	+	all_cancers(95;3.3e-05)		18						Missense_Mutation	SNP	ENST00000408907.2	37	c.52T>A	CCDS41923.1	.	.	.	.	.	.	.	.	.	.	T	8.718	0.913762	0.17907	.	.	ENSG00000222028	ENST00000408907	T	0.28454	1.61	4.61	2.23	0.28157	.	1.144360	0.06705	N	0.772145	T	0.20210	0.0486	L	0.40543	1.245	0.09310	N	1	B	0.31318	0.319	B	0.24155	0.051	T	0.25047	-1.0143	10	0.15066	T	0.55	-0.3926	4.0328	0.09716	0.0:0.1078:0.2166:0.6756	.	18	A5LHX3	PSB11_HUMAN	T	18	ENSP00000386212:S18T	ENSP00000386212:S18T	S	+	1	0	PSMB11	22581326	0.000000	0.05858	0.002000	0.10522	0.717000	0.41224	0.094000	0.15107	0.838000	0.34948	0.533000	0.62120	TCA		0.622	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	NM_001099780		55	75	55	75	---	---	---	---
MPRIP	23164	broad.mit.edu	37	17	17075149	17075149	+	Missense_Mutation	SNP	C	C	G			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr17:17075149C>G	ENST00000341712.4	+	16	2281	c.2281C>G	c.(2281-2283)Cta>Gta	p.L761V	RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395811.5_Missense_Mutation_p.L761V|MPRIP_ENST00000395804.3_Missense_Mutation_p.L761V|RNU6-767P_ENST00000384132.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.L723V			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	761	Interaction with RHOA.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGACCGCCTCCTAGCCGAGGA	0.557																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(2281-2283)Cta>Gta		myosin phosphatase Rho interacting protein							50.0	57.0	55.0					17																	17075149		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17075149C>G	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2281C>G	17.37:g.17075149C>G	ENSP00000342379:p.Leu761Val		Somatic				MPRIP_ENST00000395804.3_Missense_Mutation_p.L761V|MPRIP_ENST00000444976.1_Missense_Mutation_p.L723V|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000341712.4_Missense_Mutation_p.L761V	p.L761V	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	WXS	Illumina GAIIx	Phase_I	Q6WCQ1	MPRIP_HUMAN			16	2370	+			761			Interaction with RHOA.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.2281C>G	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.073119|4.073119	0.76415|0.76415	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712|ENST00000313485	T;T;T;T|.	0.34072|.	1.38;1.69;1.65;1.65|.	5.79|5.79	4.63|4.63	0.57726|0.57726	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.76793|0.76793	0.4037|0.4037	M|M	0.81497|0.81497	2.545|2.545	0.40362|0.40362	D|D	0.979258|0.979258	D;D;D|.	0.89917|.	1.0;0.999;0.997|.	D;D;D|.	0.91635|.	0.999;0.991;0.991|.	T|T	0.78770|0.78770	-0.2074|-0.2074	10|5	0.56958|.	D|.	0.05|.	-8.5622|-8.5622	15.7416|15.7416	0.77901|0.77901	0.0:0.9239:0.0:0.0761|0.0:0.9239:0.0:0.0761	.|.	1125;761;761|.	Q9Y6X7;Q6WCQ1-2;Q6WCQ1|.	.;.;MPRIP_HUMAN|.	V|R	723;761;761;761|1125	ENSP00000400189:L723V;ENSP00000379156:L761V;ENSP00000379149:L761V;ENSP00000342379:L761V|.	ENSP00000342379:L761V|.	L|P	+|+	1|2	2|0	MPRIP|MPRIP	17015874|17015874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	2.650000|2.650000	0.46665|0.46665	2.743000|2.743000	0.94032|0.94032	0.655000|0.655000	0.94253|0.94253	CTA|CCT		0.557	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		21	31	21	31	---	---	---	---
KRT27	342574	broad.mit.edu	37	17	38936652	38936652	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr17:38936652C>T	ENST00000301656.3	-	3	624	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27									p.R195Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CAGGACTCTTCGCAAACCATT	0.478																																						ENST00000301656.3																			1	Substitution - Missense(1)	p.R195Q(1)	large_intestine(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(583-585)cGa>cAa		keratin 27							86.0	74.0	78.0					17																	38936652		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38936652C>T	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.584G>A	17.37:g.38936652C>T	ENSP00000301656:p.Arg195Gln		Somatic					p.R195Q	NM_181537.3	NP_853515.2	WXS	Illumina GAIIx	Phase_I	Q7Z3Y8	K1C27_HUMAN			3	624	-		Breast(137;0.000812)	195			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000301656.3	37	c.584G>A	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199105	0.79015	.	.	ENSG00000171446	ENST00000301656	D	0.92099	-2.97	5.5	4.53	0.55603	Filament (1);	0.000000	0.64402	D	0.000012	D	0.96153	0.8746	M	0.86573	2.825	0.37185	D	0.903669	D	0.76494	0.999	D	0.75020	0.985	D	0.98541	1.0632	10	0.87932	D	0	.	13.9161	0.63899	0.0:0.9262:0.0:0.0738	.	195	Q7Z3Y8	K1C27_HUMAN	Q	195	ENSP00000301656:R195Q	ENSP00000301656:R195Q	R	-	2	0	KRT27	36190178	0.298000	0.24417	0.981000	0.43875	0.728000	0.41692	0.974000	0.29436	1.456000	0.47831	0.655000	0.94253	CGA		0.478	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		12	31	12	31	---	---	---	---
CDK5RAP3	80279	broad.mit.edu	37	17	46054119	46054119	+	Silent	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr17:46054119G>A	ENST00000338399.4	+	9	946	c.840G>A	c.(838-840)ggG>ggA	p.G280G	RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Silent_p.G305G	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	280					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						TGTCTGAGGGGACTGACTCTG	0.537																																						ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.(913-915)ggG>ggA		CDK5 regulatory subunit associated protein 3							75.0	74.0	74.0					17																	46054119		1949	4138	6087	SO:0001819	synonymous_variant	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46054119G>A	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.840G>A	17.37:g.46054119G>A			Somatic				CDK5RAP3_ENST00000338399.4_Silent_p.G280G	p.G305G	NM_001278197.1	NP_001265126.1	WXS	Illumina GAIIx	Phase_I	Q96JB5	CK5P3_HUMAN			9	1024	+			280					B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Silent	SNP	ENST00000338399.4	37	c.915G>A	CCDS42356.1																																																																																				0.537	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096		30	7	30	7	---	---	---	---
L3MBTL4	91133	broad.mit.edu	37	18	6311576	6311576	+	Missense_Mutation	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr18:6311576G>A	ENST00000284898.6	-	3	249	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R17C|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.R17C|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R17C	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	17					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TGATCCAAACGCTCTTTGGAA	0.478																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000400104.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(49-51)Cgt>Tgt		l(3)mbt-like 4 (Drosophila)							308.0	275.0	286.0					18																	6311576		2203	4300	6503	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6311576G>A	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.49C>T	18.37:g.6311576G>A	ENSP00000284898:p.Arg17Cys		Somatic				L3MBTL4_ENST00000284898.6_Missense_Mutation_p.R17C|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R17C|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R17C	p.R17C			WXS	Illumina GAIIx	Phase_I	Q8NA19	LMBL4_HUMAN			3	249	-		Colorectal(10;0.0249)	17					A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.49C>T	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	.	13.13	2.146287	0.37923	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000400104	T;T;T;T	0.14640	2.49;2.49;2.49;2.69	4.8	3.0	0.34707	.	0.914058	0.09169	N	0.839236	T	0.08223	0.0205	N	0.22421	0.69	0.19300	N	0.999972	P	0.48911	0.917	B	0.36418	0.224	T	0.25882	-1.0119	10	0.59425	D	0.04	.	6.0343	0.19697	0.0958:0.0:0.7193:0.1849	.	17	Q8NA19	LMBL4_HUMAN	C	17	ENSP00000382976:R17C;ENSP00000318543:R17C;ENSP00000284898:R17C;ENSP00000382975:R17C	ENSP00000284898:R17C	R	-	1	0	L3MBTL4	6301576	0.011000	0.17503	0.097000	0.21041	0.682000	0.39822	0.988000	0.29616	0.625000	0.30304	-0.228000	0.12330	CGT		0.478	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		18	180	18	180	---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44561290	44561290	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr18:44561290C>T	ENST00000332567.4	-	1	698	c.346G>A	c.(346-348)Gcg>Acg	p.A116T	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	116					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A116T(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGGCCGTCGCGTTTTCTGGG	0.662																																						ENST00000332567.4																			1	Substitution - Missense(1)	p.A116T(1)	large_intestine(1)	breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(346-348)Gcg>Acg		transcription elongation factor B polypeptide 3B (elongin A2)							45.0	53.0	50.0					18																	44561290		2199	4296	6495	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561290C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.346G>A	18.37:g.44561290C>T	ENSP00000331302:p.Ala116Thr		Somatic				KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.A116T	NM_016427.2	NP_057511.2	WXS	Illumina GAIIx	Phase_I	Q8IYF1	ELOA2_HUMAN			1	698	-			116					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.346G>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	5.944	0.358254	0.11239	.	.	ENSG00000206181	ENST00000332567	T	0.06687	3.27	2.61	-5.22	0.02806	.	1.448910	0.05242	U	0.512412	T	0.03477	0.0100	N	0.22421	0.69	0.09310	N	1	P	0.46020	0.871	B	0.33521	0.165	T	0.20806	-1.0264	10	0.22706	T	0.39	2.3089	1.5561	0.02585	0.1498:0.3783:0.2263:0.2456	.	116	Q8IYF1	ELOA2_HUMAN	T	116	ENSP00000331302:A116T	ENSP00000331302:A116T	A	-	1	0	TCEB3B	42815288	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.541000	0.06099	-2.991000	0.00279	-0.534000	0.04291	GCG		0.662	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		4	78	4	78	---	---	---	---
BRSK1	84446	broad.mit.edu	37	19	55805438	55805438	+	Missense_Mutation	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr19:55805438G>A	ENST00000309383.1	+	5	789	c.512G>A	c.(511-513)cGc>cAc	p.R171H	BRSK1_ENST00000590333.1_Missense_Mutation_p.R187H|BRSK1_ENST00000585418.1_Missense_Mutation_p.R171H	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	171	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AACAACATCCGCATTGCAGAC	0.622																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(511-513)cGc>cAc		BR serine/threonine kinase 1							166.0	172.0	170.0					19																	55805438		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55805438G>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.512G>A	19.37:g.55805438G>A	ENSP00000310649:p.Arg171His		Somatic				BRSK1_ENST00000590333.1_Missense_Mutation_p.R187H|BRSK1_ENST00000585418.1_Missense_Mutation_p.R171H	p.R171H	NM_032430.1	NP_115806.1	WXS	Illumina GAIIx	Phase_I	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	5	789	+		Renal(1328;0.245)	171			Protein kinase.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.512G>A	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	33	5.234175	0.95207	.	.	ENSG00000160469	ENST00000309383	T	0.25414	1.8	4.79	4.79	0.61399	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	0.64402	D	0.000002	T	0.41096	0.1144	L	0.31845	0.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.975	T	0.35773	-0.9775	10	0.87932	D	0	.	16.9671	0.86288	0.0:0.0:1.0:0.0	.	171;187	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	H	171	ENSP00000310649:R171H	ENSP00000310649:R171H	R	+	2	0	BRSK1	60497250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.123000	0.94387	2.371000	0.80710	0.561000	0.74099	CGC		0.622	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		7	346	7	346	---	---	---	---
PCSK2	5126	broad.mit.edu	37	20	17462324	17462324	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr20:17462324C>T	ENST00000262545.2	+	12	1841	c.1526C>T	c.(1525-1527)gCt>gTt	p.A509V	PCSK2_ENST00000536609.1_Missense_Mutation_p.A474V|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.A490V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	509					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CATGTCCAGGCTGTCATCACG	0.532																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1525-1527)gCt>gTt		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						125.0	99.0	108.0					20																	17462324		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17462324C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1526C>T	20.37:g.17462324C>T	ENSP00000262545:p.Ala509Val		Somatic				PCSK2_ENST00000536609.1_Missense_Mutation_p.A474V|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.A490V	p.A509V	NM_002594.3	NP_002585.2	WXS	Illumina GAIIx	Phase_I	P16519	NEC2_HUMAN			12	1841	+			509					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1526C>T	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256494	0.80246	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.56941	0.43;0.43;0.43	5.93	5.93	0.95920	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	L	0.28400	0.85	0.80722	D	1	D;D;P	0.89917	0.997;1.0;0.574	P;D;B	0.72625	0.904;0.978;0.093	T	0.53549	-0.8423	10	0.22109	T	0.4	-18.7329	18.9036	0.92452	0.0:1.0:0.0:0.0	.	474;490;509	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	V	490;509;474	ENSP00000367131:A490V;ENSP00000262545:A509V;ENSP00000437458:A474V	ENSP00000262545:A509V	A	+	2	0	PCSK2	17410324	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	6.060000	0.71141	2.803000	0.96430	0.585000	0.79938	GCT		0.532	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		16	30	16	30	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136594312	136594313	+	Frame_Shift_Ins	INS	-	-	TTGAAGTATTGCTCTG			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr6:136594312_136594313insTTGAAGTATTGCTCTG	ENST00000531224.1	-	7	2117_2118	c.1865_1866insCAGAGCAATACTTCAA	c.(1864-1866)aagfs	p.K622fs	BCLAF1_ENST00000527759.1_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000353331.4_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000392348.2_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000530767.1_Frame_Shift_Ins_p.K449fs|BCLAF1_ENST00000527536.1_Frame_Shift_Ins_p.K622fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	622					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGCAGCTGACTTGAAGTATTG	0.401																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1864-1866)aagfs		BCL2-associated transcription factor 1																																				SO:0001589	frameshift_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136594312_136594313insTTGAAGTATTGCTCTG	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1865_1866insCAGAGCAATACTTCAA	6.37:g.136594312_136594313insTTGAAGTATTGCTCTG	ENSP00000435210:p.Lys622fs		Somatic				BCLAF1_ENST00000527759.1_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000392348.2_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000530767.1_Frame_Shift_Ins_p.K449fs|BCLAF1_ENST00000353331.4_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000527536.1_Frame_Shift_Ins_p.K622fs	p.K622fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	WXS	Illumina GAIIx	Phase_I	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	7	2117_2118	-	Colorectal(23;0.24)		622					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Frame_Shift_Ins	INS	ENST00000531224.1	37	c.1865_1866insCAGAGCAATACTTCAA	CCDS5177.1																																																																																				0.401	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		11	259	11	259	---	---	---	---
