#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MUC7	4589	broad.mit.edu	37	4	71347534	71347534	+	Missense_Mutation	SNP	G	G	A	rs145866670	byFrequency	TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr4:71347534G>A	ENST00000304887.5	+	3	1263	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	MUC7_ENST00000413702.1_Missense_Mutation_p.R358Q|MUC7_ENST00000456088.1_Missense_Mutation_p.R358Q	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	358					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AAAATTTCTCGATTTCTTTTA	0.358													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20675	0.0		0.001	False		,,,				2504	0.0					ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1072-1074)cGa>cAa		mucin 7, secreted		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	64.0	71.0	69.0		1073,1073,1073	-2.5	0.0	4	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MUC7	NM_001145006.1,NM_001145007.1,NM_152291.2	43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	358/378,358/378,358/378	71347534	1,13005	2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347534G>A	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.1073G>A	4.37:g.71347534G>A	ENSP00000302021:p.Arg358Gln					MUC7_ENST00000304887.5_Missense_Mutation_p.R358Q|MUC7_ENST00000456088.1_Missense_Mutation_p.R358Q	p.R358Q	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	1361	+			358					Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.1073G>A	CCDS3541.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.35	2.209655	0.39003	0.0	1.16E-4	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.55234	0.53;0.53;0.53	2.81	-2.46	0.06461	.	.	.	.	.	T	0.31263	0.0791	N	0.24115	0.695	0.09310	N	1	B	0.23735	0.09	B	0.13407	0.009	T	0.16630	-1.0396	8	.	.	.	0.0857	7.5652	0.27874	0.4291:0.0:0.5709:0.0	.	358	Q8TAX7	MUC7_HUMAN	Q	358	ENSP00000407422:R358Q;ENSP00000400585:R358Q;ENSP00000302021:R358Q	.	R	+	2	0	MUC7	71382123	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.460000	0.06720	-0.542000	0.06249	-0.806000	0.03193	CGA		0.358	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		5	69	0	0	0	0.000602214	0	5	69				
IGHV2-26	28455	broad.mit.edu	37	14	106757779	106757779	+	RNA	SNP	G	G	A	rs376866206		TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr14:106757779G>A	ENST00000390611.2	-	0	251									immunoglobulin heavy variable 2-26																		AGGATTTTTCGTCATTCGAAA	0.532																																						ENST00000390611.2																			0															G		2,3906		0,2,1952	97.0	90.0	92.0			-2.2	0.0	14		92	1,8299		0,1,4149	no	intergenic				0,3,6101	AA,AG,GG		0.012,0.0512,0.0246			106757779	3,12205	1954	4150	6104			0							g.chr14:106757779G>A	M99648		14q32.33	2012-02-08			ENSG00000211951	ENSG00000211951		"""Immunoglobulins / IGH locus"""	5575	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152100		14.37:g.106757779G>A														0	251	-									RNA	SNP	ENST00000390611.2	37																																																																																						0.532	IGHV2-26-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325197.1	NG_001019		27	58	0	0	0	0.00395357	0	27	58				
GPRASP1	9737	broad.mit.edu	37	X	101909851	101909851	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chrX:101909851G>C	ENST00000361600.5	+	5	1811	c.1010G>C	c.(1009-1011)cGa>cCa	p.R337P	GPRASP1_ENST00000444152.1_Missense_Mutation_p.R337P|GPRASP1_ENST00000415986.1_Missense_Mutation_p.R337P|GPRASP1_ENST00000537097.1_Missense_Mutation_p.R337P|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	337					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGGCCAAGCGAGAAGCTTGC	0.478																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1009-1011)cGa>cCa		G protein-coupled receptor associated sorting protein 1							71.0	74.0	73.0					X																	101909851		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101909851G>C	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1010G>C	X.37:g.101909851G>C	ENSP00000355146:p.Arg337Pro					RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.R337P|GPRASP1_ENST00000361600.5_Missense_Mutation_p.R337P|GPRASP1_ENST00000415986.1_Missense_Mutation_p.R337P	p.R337P	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	1823	+			337					O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.1010G>C	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	9.758	1.169289	0.21621	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	2.2	-2.34	0.06704	.	.	.	.	.	T	0.17066	0.0410	L	0.59436	1.845	0.09310	N	1	D	0.54397	0.966	P	0.54346	0.749	T	0.10590	-1.0623	9	0.33940	T	0.23	-0.1561	8.5052	0.33184	0.7506:0.0:0.2494:0.0	.	337	Q5JY77	GASP1_HUMAN	P	337	ENSP00000393691:R337P;ENSP00000409420:R337P;ENSP00000355146:R337P;ENSP00000445683:R337P	ENSP00000355146:R337P	R	+	2	0	GPRASP1	101796507	0.000000	0.05858	0.002000	0.10522	0.350000	0.29205	-0.984000	0.03755	-0.872000	0.04037	0.458000	0.33432	CGA		0.478	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		5	107	0	0	0	0.00116845	0	5	107				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Agt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>A	2.37:g.209113113G>T	ENSP00000390265:p.Arg132Ser					IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S	p.R132S			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588857	0.86851	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.60682	0.878	D	0.98220	1.0477	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	S	132	ENSP00000260985:R132S;ENSP00000410513:R132S;ENSP00000390265:R132S;ENSP00000391075:R132S	ENSP00000260985:R132S	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	39	1	0	1.10923e-09	0.00278032	5.40147e-09	20	39				
OR10H3	26532	broad.mit.edu	37	19	15852474	15852474	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr19:15852474G>A	ENST00000305892.1	+	1	272	c.272G>A	c.(271-273)cGt>cAt	p.R91H		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTCACCCATCGTTCCATCACC	0.498																																						ENST00000305892.1																			0				cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(271-273)cGt>cAt		olfactory receptor, family 10, subfamily H, member 3							550.0	459.0	490.0					19																	15852474		2203	4300	6503	SO:0001583	missense	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852474G>A		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.272G>A	19.37:g.15852474G>A	ENSP00000307130:p.Arg91His						p.R91H	NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN			1	272	+			91					Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	ENST00000305892.1	37	c.272G>A	CCDS12334.1	.	.	.	.	.	.	.	.	.	.	.	0.191	-1.053034	0.01965	.	.	ENSG00000171936	ENST00000305892	T	0.38077	1.16	2.35	-4.7	0.03288	GPCR, rhodopsin-like superfamily (1);	1.169440	0.06743	N	0.778691	T	0.23014	0.0556	L	0.28054	0.825	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30060	-0.9991	10	0.45353	T	0.12	.	8.5472	0.33429	0.3882:0.0:0.6118:0.0	.	91	O60404	O10H3_HUMAN	H	91	ENSP00000307130:R91H	ENSP00000307130:R91H	R	+	2	0	OR10H3	15713474	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-3.668000	0.00398	-1.012000	0.03387	-1.215000	0.01618	CGT		0.498	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			10	381	0	0	0	0.00185496	0	10	381				
VIT	5212	broad.mit.edu	37	2	37032683	37032683	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr2:37032683C>T	ENST00000389975.3	+	13	1522	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	VIT_ENST00000497382.1_Missense_Mutation_p.T76M|VIT_ENST00000379242.3_Missense_Mutation_p.T422M|VIT_ENST00000379241.3_Missense_Mutation_p.T385M|VIT_ENST00000401530.1_Missense_Mutation_p.T386M|VIT_ENST00000404084.1_Missense_Mutation_p.T359M	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	407	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GGCTGGCCCACGGACAAAGTG	0.502																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1264-1266)aCg>aTg		vitrin							103.0	94.0	97.0					2																	37032683		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37032683C>T	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1220C>T	2.37:g.37032683C>T	ENSP00000374625:p.Thr407Met					VIT_ENST00000497382.1_Missense_Mutation_p.T76M|VIT_ENST00000389975.3_Missense_Mutation_p.T407M|VIT_ENST00000401530.1_Missense_Mutation_p.T386M|VIT_ENST00000379241.3_Missense_Mutation_p.T385M|VIT_ENST00000404084.1_Missense_Mutation_p.T359M	p.T422M	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			14	1567	+		all_hematologic(82;0.248)	407			VWFA 1.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1265C>T	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304240	0.81136	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.49	4.59	0.56863	von Willebrand factor, type A (3);	0.048826	0.85682	D	0.000000	D	0.89955	0.6865	L	0.50333	1.59	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.89778	0.3959	10	0.46703	T	0.11	-13.17	16.0159	0.80439	0.0:0.8652:0.1348:0.0	.	386;385;407;422	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	M	422;407;76;359;385;386	ENSP00000368544:T422M;ENSP00000374625:T407M;ENSP00000417874:T76M;ENSP00000384154:T359M;ENSP00000368543:T385M;ENSP00000385658:T386M	ENSP00000368543:T385M	T	+	2	0	VIT	36886187	1.000000	0.71417	0.910000	0.35882	0.960000	0.62799	6.037000	0.70956	1.258000	0.44101	0.650000	0.86243	ACG		0.502	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				16	85	0	0	0	0.00400662	0	16	85				
WBSCR17	64409	broad.mit.edu	37	7	70853295	70853295	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr7:70853295C>T	ENST00000333538.5	+	3	1131	c.497C>T	c.(496-498)tCg>tTg	p.S166L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	166	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAGGCCCTGTCGGTGATCCTG	0.542																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(496-498)tCg>tTg		Williams-Beuren syndrome chromosome region 17							130.0	108.0	116.0					7																	70853295		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70853295C>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.497C>T	7.37:g.70853295C>T	ENSP00000329654:p.Ser166Leu					WBSCR17_ENST00000498380.2_3'UTR	p.S166L	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			3	1131	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	166			Catalytic subdomain A.		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.497C>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478671	0.96291	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	T;T	0.60548	0.18;0.18	5.44	5.44	0.79542	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.83547	0.5278	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.88243	0.2911	10	0.87932	D	0	.	18.6108	0.91284	0.0:1.0:0.0:0.0	.	166	Q6IS24	GLTL3_HUMAN	L	166;144	ENSP00000329654:S166L;ENSP00000392019:S144L	ENSP00000329654:S166L	S	+	2	0	WBSCR17	70491231	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	7.768000	0.85345	2.702000	0.92279	0.655000	0.94253	TCG		0.542	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		7	68	0	0	0	0.00198382	0	7	68				
SEMA7A	8482	broad.mit.edu	37	15	74709961	74709961	+	Missense_Mutation	SNP	G	G	A	rs140327601		TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr15:74709961G>A	ENST00000261918.4	-	5	1069	c.521C>T	c.(520-522)cCg>cTg	p.P174L	SEMA7A_ENST00000543145.2_Missense_Mutation_p.P160L|SEMA7A_ENST00000542748.1_Missense_Mutation_p.P9L	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	174	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GTTCTCGTCCGGGCTGAAGGG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		19714	0.0		0.001	False		,,,				2504	0.0					ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(520-522)cCg>cTg		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)		G	LEU/PRO,LEU/PRO,LEU/PRO	1,4393	2.1+/-5.4	0,1,2196	46.0	44.0	44.0		479,26,521	4.6	1.0	15	dbSNP_134	44	3,8589	3.0+/-9.4	0,3,4293	yes	missense,missense,missense	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	98,98,98	0,4,6489	AA,AG,GG		0.0349,0.0228,0.0308	probably-damaging,probably-damaging,probably-damaging	160/653,9/502,174/667	74709961	4,12982	2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74709961G>A	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.521C>T	15.37:g.74709961G>A	ENSP00000261918:p.Pro174Leu					SEMA7A_ENST00000542748.1_Missense_Mutation_p.P9L|SEMA7A_ENST00000543145.2_Missense_Mutation_p.P160L	p.P174L	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			5	1069	-			174			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.521C>T	CCDS10262.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.64	3.438927	0.63067	2.28E-4	3.49E-4	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.36157	1.27;1.27;1.27	4.6	4.6	0.57074	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.145254	0.48767	D	0.000161	T	0.45617	0.1351	M	0.88181	2.935	0.53688	D	0.99997	D;D	0.65815	0.987;0.995	B;P	0.45681	0.287;0.49	T	0.56535	-0.7963	10	0.87932	D	0	-15.9257	6.4898	0.22109	0.0973:0.1851:0.7175:0.0	.	160;174	F5H1S0;O75326	.;SEM7A_HUMAN	L	174;160;9	ENSP00000261918:P174L;ENSP00000438966:P160L;ENSP00000441493:P9L	ENSP00000261918:P174L	P	-	2	0	SEMA7A	72497014	0.961000	0.32948	0.962000	0.40283	0.947000	0.59692	1.803000	0.38863	2.383000	0.81215	0.491000	0.48974	CCG		0.612	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		15	33	0	0	0	0.00074312	0	15	33				
GPRASP1	9737	broad.mit.edu	37	X	101910618	101910618	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chrX:101910618G>C	ENST00000361600.5	+	5	2578	c.1777G>C	c.(1777-1779)Gat>Cat	p.D593H	GPRASP1_ENST00000444152.1_Missense_Mutation_p.D593H|GPRASP1_ENST00000415986.1_Missense_Mutation_p.D593H|GPRASP1_ENST00000537097.1_Missense_Mutation_p.D593H|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	593	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GACCTATATGGATTGTAGGGC	0.507																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1777-1779)Gat>Cat		G protein-coupled receptor associated sorting protein 1							85.0	92.0	90.0					X																	101910618		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101910618G>C	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1777G>C	X.37:g.101910618G>C	ENSP00000355146:p.Asp593His					RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.D593H|GPRASP1_ENST00000361600.5_Missense_Mutation_p.D593H|GPRASP1_ENST00000415986.1_Missense_Mutation_p.D593H	p.D593H	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	2590	+			593			Glu-rich.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.1777G>C	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467093	0.26335	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	2.65	2.65	0.31530	.	.	.	.	.	T	0.33614	0.0869	M	0.63843	1.955	0.09310	N	1	D	0.76494	0.999	P	0.62813	0.907	T	0.04229	-1.0967	9	0.54805	T	0.06	-8.4768	10.6803	0.45811	0.0:0.0:1.0:0.0	.	593	Q5JY77	GASP1_HUMAN	H	593	ENSP00000393691:D593H;ENSP00000409420:D593H;ENSP00000355146:D593H;ENSP00000445683:D593H	ENSP00000355146:D593H	D	+	1	0	GPRASP1	101797274	0.030000	0.19436	0.011000	0.14972	0.065000	0.16274	0.936000	0.28938	1.635000	0.50512	0.519000	0.50382	GAT		0.507	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		3	134	0	0	0	6.4e-05	0	3	134				
DLGAP3	58512	broad.mit.edu	37	1	35334404	35334404	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr1:35334404T>G	ENST00000373347.1	-	9	2555	c.2287A>C	c.(2287-2289)Acc>Ccc	p.T763P	DLGAP3_ENST00000235180.4_Missense_Mutation_p.T763P			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	763					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				gggccgggggtgggggcgggg	0.766																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(2287-2289)Acc>Ccc		discs, large (Drosophila) homolog-associated protein 3							5.0	7.0	6.0					1																	35334404		1774	3680	5454	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35334404T>G	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.2287A>C	1.37:g.35334404T>G	ENSP00000362444:p.Thr763Pro					DLGAP3_ENST00000235180.4_Missense_Mutation_p.T763P	p.T763P			O95886	DLGP3_HUMAN			9	2555	-		Myeloproliferative disorder(586;0.0393)	763					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.2287A>C	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.710737	0.48517	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.17854	2.25;2.25	5.09	0.229	0.15368	.	0.496014	0.22840	N	0.054989	T	0.16385	0.0394	N	0.22421	0.69	0.25042	N	0.991192	D	0.59357	0.985	P	0.57057	0.812	T	0.15983	-1.0418	10	0.27082	T	0.32	-3.8395	7.4445	0.27203	0.0:0.5676:0.0:0.4324	.	763	O95886	DLGP3_HUMAN	P	763	ENSP00000362444:T763P;ENSP00000235180:T763P	ENSP00000235180:T763P	T	-	1	0	DLGAP3	35106991	0.931000	0.31567	0.529000	0.27951	0.994000	0.84299	0.300000	0.19156	0.114000	0.18032	0.533000	0.62120	ACC		0.766	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		3	21	0	0	0	0.00116845	0	3	21				
TSPAN16	26526	broad.mit.edu	37	19	11417342	11417342	+	Silent	SNP	G	G	A			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr19:11417342G>A	ENST00000316737.1	+	5	663	c.513G>A	c.(511-513)acG>acA	p.T171T	TSPAN16_ENST00000590327.1_Silent_p.T171T|TSPAN16_ENST00000592955.1_Silent_p.T146T|CTC-510F12.4_ENST00000586356.1_RNA	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	171						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						AAATGACAACGGGCCACACCT	0.488																																						ENST00000316737.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						c.(511-513)acG>acA		tetraspanin 16							114.0	98.0	103.0					19																	11417342		2203	4300	6503	SO:0001819	synonymous_variant	26526					integral to membrane		g.chr19:11417342G>A	BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"""Tetraspanins"""	30725	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 16"""	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.513G>A	19.37:g.11417342G>A						CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000590327.1_Silent_p.T171T|TSPAN16_ENST00000592955.1_Silent_p.T146T	p.T171T	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN			5	663	+			171					K7EN22|K7EPD8|Q8N6J7	Silent	SNP	ENST00000316737.1	37	c.513G>A	CCDS12256.1																																																																																				0.488	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453204.1	NM_012466		5	65	0	0	0	0.00198382	0	5	65				
HIVEP3	59269	broad.mit.edu	37	1	42049093	42049093	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr1:42049093G>A	ENST00000372583.1	-	4	2261	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	HIVEP3_ENST00000247584.5_Missense_Mutation_p.T459M|HIVEP3_ENST00000429157.2_Missense_Mutation_p.T459M|HIVEP3_ENST00000372584.1_Missense_Mutation_p.T459M	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	459	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GATCACCTGCGTCCGGGGTAC	0.637																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(1375-1377)aCg>aTg		human immunodeficiency virus type I enhancer binding protein 3							62.0	56.0	58.0					1																	42049093		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42049093G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1376C>T	1.37:g.42049093G>A	ENSP00000361664:p.Thr459Met					HIVEP3_ENST00000247584.5_Missense_Mutation_p.T459M|HIVEP3_ENST00000429157.2_Missense_Mutation_p.T459M|HIVEP3_ENST00000372583.1_Missense_Mutation_p.T459M	p.T459M	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	2390	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	459			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.1376C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853574	0.51270	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	4.82	4.82	0.62117	.	0.000000	0.53938	D	0.000051	T	0.44393	0.1291	L	0.58101	1.795	0.50813	D	0.999891	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.33394	-0.9870	10	0.56958	D	0.05	-5.665	17.6825	0.88248	0.0:0.0:1.0:0.0	.	459;459	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	M	459	ENSP00000361665:T459M;ENSP00000361664:T459M;ENSP00000247584:T459M;ENSP00000410828:T459M	ENSP00000247584:T459M	T	-	2	0	HIVEP3	41821680	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.447000	0.73465	2.514000	0.84764	0.561000	0.74099	ACG		0.637	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		12	48	0	0	0	0.000978159	0	12	48				
LONRF1	91694	broad.mit.edu	37	8	12595574	12595574	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr8:12595574T>C	ENST00000398246.3	-	4	1112	c.1043A>G	c.(1042-1044)aAa>aGa	p.K348R	LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	348							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		AGGTCTGTTTTTAGTACATGG	0.363																																						ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1042-1044)aAa>aGa		LON peptidase N-terminal domain and ring finger 1							101.0	92.0	95.0					8																	12595574		1839	4091	5930	SO:0001583	missense	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12595574T>C	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1043A>G	8.37:g.12595574T>C	ENSP00000381298:p.Lys348Arg					LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	p.K348R	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	4	1112	-			348					B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	c.1043A>G	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	T	11.86	1.764368	0.31228	.	.	ENSG00000154359	ENST00000398246	T	0.42900	0.96	5.45	4.31	0.51392	.	1.048270	0.07519	N	0.910279	T	0.19005	0.0456	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.39187	-0.9626	10	0.02654	T	1	-17.2227	4.7558	0.13082	0.0:0.1831:0.0:0.8169	.	348	Q17RB8	LONF1_HUMAN	R	348	ENSP00000381298:K348R	ENSP00000381298:K348R	K	-	2	0	LONRF1	12639945	1.000000	0.71417	0.945000	0.38365	0.979000	0.70002	3.695000	0.54749	2.371000	0.80710	0.533000	0.62120	AAA		0.363	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		16	41	0	0	0	0.00400662	0	16	41				
MAP3K13	9175	broad.mit.edu	37	3	185161243	185161243	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr3:185161243A>G	ENST00000265026.3	+	4	1004	c.670A>G	c.(670-672)Act>Gct	p.T224A	MAP3K13_ENST00000424227.1_Missense_Mutation_p.T224A|MAP3K13_ENST00000446828.1_Missense_Mutation_p.T17A|MAP3K13_ENST00000535426.1_Missense_Mutation_p.T80A|MAP3K13_ENST00000443863.1_Missense_Mutation_p.T80A|snoU13_ENST00000459417.1_RNA	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGGTGTTTGTACTCAGGCCCC	0.363																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(670-672)Act>Gct		mitogen-activated protein kinase kinase kinase 13							136.0	123.0	127.0					3																	185161243		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185161243A>G	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.670A>G	3.37:g.185161243A>G	ENSP00000265026:p.Thr224Ala					MAP3K13_ENST00000446828.1_Missense_Mutation_p.T17A|MAP3K13_ENST00000443863.1_Missense_Mutation_p.T80A|MAP3K13_ENST00000535426.1_Missense_Mutation_p.T80A|MAP3K13_ENST00000424227.1_Missense_Mutation_p.T224A	p.T224A	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	1004	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		224			Protein kinase.			Missense_Mutation	SNP	ENST00000265026.3	37	c.670A>G	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.664590	0.88251	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87954	0.6308	L	0.48986	1.54	0.80722	D	1	P;D;D	0.64830	0.925;0.992;0.994	P;P;D	0.64877	0.848;0.886;0.93	D	0.87871	0.2671	10	0.48119	T	0.1	.	16.1778	0.81874	1.0:0.0:0.0:0.0	.	80;17;224	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	A	17;224;80;80;224	ENSP00000411483:T17A;ENSP00000399910:T224A;ENSP00000409325:T80A;ENSP00000439257:T80A;ENSP00000265026:T224A	ENSP00000265026:T224A	T	+	1	0	MAP3K13	186643937	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.339000	0.96797	2.279000	0.76181	0.533000	0.62120	ACT		0.363	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		3	59	0	0	0	6.4e-05	0	3	59				
MMP16	4325	broad.mit.edu	37	8	89339322	89339322	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr8:89339322C>G	ENST00000286614.6	-	1	395	c.114G>C	c.(112-114)gaG>gaC	p.E38D	RP11-586K2.1_ENST00000523254.1_RNA|RP11-586K2.1_ENST00000520849.1_RNA|RP11-586K2.1_ENST00000521433.1_RNA|MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	38					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TGAAATACTGCTCCGTTCCGC	0.507																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(112-114)gaG>gaC		matrix metallopeptidase 16 (membrane-inserted)							139.0	119.0	126.0					8																	89339322		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89339322C>G	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.114G>C	8.37:g.89339322C>G	ENSP00000286614:p.Glu38Asp					RP11-586K2.1_ENST00000523254.1_RNA|MMP16_ENST00000544227.1_5'UTR	p.E38D	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			1	395	-			38					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.114G>C	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138058	0.37728	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.38722	1.12;1.12	5.58	3.81	0.43845	Metallopeptidase, catalytic domain (1);	0.225469	0.45126	D	0.000391	T	0.26738	0.0654	N	0.20986	0.625	0.43156	D	0.994933	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.003	T	0.05289	-1.0894	10	0.19590	T	0.45	.	10.7077	0.45965	0.0:0.8526:0.0:0.1474	.	38;38	P51512-2;P51512	.;MMP16_HUMAN	D	38;55	ENSP00000286614:E38D;ENSP00000429147:E55D	ENSP00000286614:E38D	E	-	3	2	MMP16	89408438	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.925000	0.40074	0.737000	0.32582	-0.214000	0.12660	GAG		0.507	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		3	104	0	0	0	0.00024832	0	3	104				
DYNC2LI1	51626	broad.mit.edu	37	2	44021694	44021694	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr2:44021694A>G	ENST00000260605.8	+	6	519	c.419A>G	c.(418-420)aAa>aGa	p.K140R	DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.K140R|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.K14R|DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.K140R|DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000489222.2_3'UTR	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	140					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATGTAGACAAAGTGATAATG	0.408																																						ENST00000260605.8																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26						c.(418-420)aAa>aGa		dynein, cytoplasmic 2, light intermediate chain 1							111.0	114.0	113.0					2																	44021694		2203	4300	6503	SO:0001583	missense	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44021694A>G		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.419A>G	2.37:g.44021694A>G	ENSP00000260605:p.Lys140Arg					DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.K14R|DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.K140R|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.K140R	p.K140R	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN			6	519	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	140					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	c.419A>G	CCDS1813.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.01|13.01	2.110092|2.110092	0.37242|0.37242	.|.	.|.	ENSG00000138036|ENSG00000138036	ENST00000378587|ENST00000260605;ENST00000443170;ENST00000406852	T|T;T;T	0.14022|0.46819	2.54|2.28;0.86;1.4	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.43567|0.43567	0.1253|0.1253	L|L	0.56769|0.56769	1.78|1.78	0.48341|0.48341	D|D	0.999632|0.999632	.|B;B;B;B	.|0.20261	.|0.016;0.019;0.016;0.043	.|B;B;B;B	.|0.21360	.|0.02;0.034;0.02;0.034	T|T	0.40289|0.40289	-0.9571|-0.9571	8|10	0.28530|0.46703	T|T	0.3|0.11	-20.5193|-20.5193	10.2793|10.2793	0.43530|0.43530	0.9228:0.0:0.0772:0.0|0.9228:0.0:0.0772:0.0	.|.	.|140;140;140;140	.|Q8TCX1-2;Q8TCX1;Q8TCX1-3;Q8TCX1-4	.|.;DC2L1_HUMAN;.;.	E|R	124|140;14;140	ENSP00000367850:K124E|ENSP00000260605:K140R;ENSP00000388941:K14R;ENSP00000385738:K140R	ENSP00000367850:K124E|ENSP00000260605:K140R	K|K	+|+	1|2	0|0	DYNC2LI1|DYNC2LI1	43875198|43875198	1.000000|1.000000	0.71417|0.71417	0.683000|0.683000	0.30040|0.30040	0.748000|0.748000	0.42578|0.42578	2.382000|2.382000	0.44345|0.44345	2.188000|2.188000	0.69820|0.69820	0.528000|0.528000	0.53228|0.53228	AAG|AAA		0.408	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008		4	65	0	0	0	0.000602214	0	4	65				
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	lincRNA	DEL	AT	AT	-			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262																																						ENST00000428624.1																			0																																																			0							g.chr1:143391923_143391924delAT																													1.37:g.143391933_143391934delAT						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	DEL	ENST00000428624.1	37																																																																																						0.262	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			3	4						3	4	---	---	---	---
CEP162	22832	broad.mit.edu	37	6	84896233	84896233	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr6:84896233delA	ENST00000403245.3	-	12	1332	c.1218delT	c.(1216-1218)tttfs	p.F406fs	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATTTTTGTCAAAAAAAAGGT	0.358																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1216-1218)ttfs		KIAA1009							141.0	150.0	147.0					6																	84896233		2202	4300	6502	SO:0001589	frameshift_variant	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84896233delA																												ENST00000403245.3:c.1218delT	6.37:g.84896233delA	ENSP00000385215:p.Phe406fs					KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs	p.F406fs	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	12	1332	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	406						Frame_Shift_Del	DEL	ENST00000403245.3	37	c.1218delT	CCDS34494.2																																																																																				0.358	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			7	191						7	191	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578444	7578449	+	In_Frame_Del	DEL	GATGGC	GATGGC	-	rs587780069|rs193920817		TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr17:7578444_7578449delGATGGC	ENST00000269305.4	-	5	670_675	c.481_486delGCCATC	c.(481-486)gccatcdel	p.AI161del	TP53_ENST00000413465.2_In_Frame_Del_p.AI161del|TP53_ENST00000455263.2_In_Frame_Del_p.AI161del|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_In_Frame_Del_p.AI161del|TP53_ENST00000420246.2_In_Frame_Del_p.AI161del|TP53_ENST00000359597.4_In_Frame_Del_p.AI161del	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	161	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A161T(54)|p.A161D(11)|p.I162F(10)|p.A161V(8)|p.0?(8)|p.I162S(7)|p.I162N(6)|p.I162V(5)|p.A161A(5)|p.I162I(4)|p.I162_Y163>N(3)|p.I162M(3)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.I162fs*10(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.I162fs*19(2)|p.V157_C176del20(1)|p.A68D(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.A161S(1)|p.I30_Y31>N(1)|p.A161fs*19(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.I69_Y70>N(1)|p.A29D(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.I162_Y163delIY(1)|p.I69S(1)|p.A161fs*20(1)|p.I30fs*10(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.I69N(1)|p.A161G(1)|p.S149fs*72(1)|p.I162fs*8(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.I30N(1)|p.I69fs*10(1)|p.R156fs*20(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.R158fs*8(1)|p.I30S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACTGCTTGTAGATGGCCATGGCGCGG	0.631		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		177	Substitution - Missense(120)|Deletion - Frameshift(11)|Deletion - In frame(10)|Insertion - Frameshift(10)|Substitution - coding silent(9)|Whole gene deletion(8)|Complex - deletion inframe(5)|Complex - frameshift(3)|Complex - compound substitution(1)	p.A161T(54)|p.A161D(11)|p.I162F(10)|p.A161V(8)|p.0?(8)|p.I162S(7)|p.I162N(6)|p.I162V(5)|p.A161A(5)|p.I162I(4)|p.I162_Y163>N(3)|p.I162M(3)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.I162fs*10(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.I162fs*19(2)|p.V157_C176del20(1)|p.A68D(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.A161S(1)|p.I30_Y31>N(1)|p.A161fs*19(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.I69_Y70>N(1)|p.A29D(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.I162_Y163delIY(1)|p.I69S(1)|p.A161fs*20(1)|p.I30fs*10(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.I69N(1)|p.A161G(1)|p.S149fs*72(1)|p.I162fs*8(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.I30N(1)|p.I69fs*10(1)|p.R156fs*20(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.R158fs*8(1)|p.I30S(1)	lung(24)|haematopoietic_and_lymphoid_tissue(20)|large_intestine(16)|breast(16)|urinary_tract(12)|liver(12)|central_nervous_system(11)|oesophagus(11)|stomach(11)|upper_aerodigestive_tract(8)|pancreas(7)|ovary(7)|endometrium(5)|bone(4)|skin(3)|thyroid(2)|soft_tissue(2)|vulva(1)|peritoneum(1)|meninges(1)|cervix(1)|prostate(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CI023564|CM983887	TP53	I|M		c.(481-486)del	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001651	inframe_deletion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578444_7578449delGATGGC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.481_486delGCCATC	17.37:g.7578444_7578449delGATGGC	ENSP00000269305:p.Ala161_Ile162del	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_In_Frame_Del_p.AI161del|TP53_ENST00000269305.4_In_Frame_Del_p.AI161del|TP53_ENST00000413465.2_In_Frame_Del_p.AI161del|TP53_ENST00000359597.4_In_Frame_Del_p.AI161del|TP53_ENST00000455263.2_In_Frame_Del_p.AI161del	p.AI161del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	613_618	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	161		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	ENST00000269305.4	37	c.481_486delGCCATC	CCDS11118.1																																																																																				0.631	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	25						38	25	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76939673	76939674	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chrX:76939673_76939674insT	ENST00000373344.5	-	9	1288_1289	c.1074_1075insA	c.(1072-1077)aaactgfs	p.L359fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.L321fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	359					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GTCTCAATCAGTTTTTTTGCCT	0.366			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1072-1077)aatgatfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939673_76939674insT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1075dupA	X.37:g.76939680_76939680dupT	ENSP00000362441:p.Leu359fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.ND320fs	p.ND358fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1288_1289	-			358					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.1074_1075insA	CCDS14434.1																																																																																				0.366	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		53	96						53	96	---	---	---	---
