#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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
MPP7	143098	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	28345529	28345529	+	Silent	SNP	T	T	C	rs200989770		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr10:28345529T>C	ENST00000375732.1	-	16	1690	c.1431A>G	c.(1429-1431)ctA>ctG	p.L477L	MPP7_ENST00000337532.5_Silent_p.L477L|MPP7_ENST00000540098.1_Silent_p.L477L|MPP7_ENST00000375719.3_Silent_p.L477L|MPP7_ENST00000445954.2_3'UTR			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	477	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GCTTAAATTCTAGTGTCCTTA	0.333													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17619	0.0		0.0	False		,,,				2504	0.0															0													116.0	115.0	116.0					10																	28345529		2203	4300	6503	SO:0001819	synonymous_variant	143098			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1431A>G	10.37:g.28345529T>C			B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	ENST00000375732.1	37	CCDS7158.1																																																																																				0.333	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		50	49	50	49
OR52I2	143502	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	4608789	4608789	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:4608789C>G	ENST00000312614.4	+	1	769	c.747C>G	c.(745-747)atC>atG	p.I249M		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCCTATATCTTAATTCTCA	0.488																																																0													173.0	172.0	173.0					11																	4608789		2201	4298	6499	SO:0001583	missense	143502			BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.747C>G	11.37:g.4608789C>G	ENSP00000308764:p.Ile249Met		B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528080	0.27299	.	.	ENSG00000226288	ENST00000312614	T	0.72725	-0.68	4.18	-0.0945	0.13644	GPCR, rhodopsin-like superfamily (1);	1.984660	0.02596	N	0.100520	T	0.63070	0.2480	L	0.38692	1.165	0.09310	N	1	P	0.45594	0.862	P	0.45681	0.49	T	0.52041	-0.8628	10	0.54805	T	0.06	0.3153	1.3663	0.02202	0.1409:0.4279:0.1583:0.2729	.	249	Q8NH67	O52I2_HUMAN	M	249	ENSP00000308764:I249M	ENSP00000308764:I249M	I	+	3	3	OR52I2	4565365	0.000000	0.05858	0.205000	0.23548	0.973000	0.67179	-4.858000	0.00177	0.077000	0.16863	0.644000	0.83932	ATC		0.488	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		64	46	64	46
OR51L1	119682	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	5021019	5021019	+	Silent	SNP	T	T	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:5021019T>C	ENST00000321543.1	+	1	807	c.807T>C	c.(805-807)caT>caC	p.H269H		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGGAAGCATCTGTCTCCCA	0.463																																																0													209.0	179.0	189.0					11																	5021019		2201	4298	6499	SO:0001819	synonymous_variant	119682			AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.807T>C	11.37:g.5021019T>C			Q6IFE5	Silent	SNP	ENST00000321543.1	37	CCDS31369.1																																																																																				0.463	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		5	34	5	34
MRGPRX3	117195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	18159642	18159642	+	Missense_Mutation	SNP	C	C	T	rs551318965		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:18159642C>T	ENST00000396275.2	+	3	1254	c.893C>T	c.(892-894)aCg>aTg	p.T298M		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T298M(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTGCAGGACACGCCTGAGGTG	0.562																																																1	Substitution - Missense(1)	prostate(1)											45.0	48.0	47.0					11																	18159642		2200	4292	6492	SO:0001583	missense	117195				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.893C>T	11.37:g.18159642C>T	ENSP00000379571:p.Thr298Met		B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	8.740	0.918658	0.17982	.	.	ENSG00000179826	ENST00000396275	T	0.24538	1.85	1.3	0.311	0.15831	.	0.912774	0.09241	N	0.829205	T	0.23649	0.0572	M	0.71871	2.18	0.20821	N	0.999841	P	0.40476	0.718	B	0.36335	0.222	T	0.24368	-1.0162	10	0.66056	D	0.02	.	3.3533	0.07160	0.0:0.704:0.0:0.296	.	298	Q96LB0	MRGX3_HUMAN	M	298	ENSP00000379571:T298M	ENSP00000379571:T298M	T	+	2	0	MRGPRX3	18116218	0.000000	0.05858	0.560000	0.28344	0.046000	0.14306	0.332000	0.19751	0.097000	0.17492	0.195000	0.17529	ACG		0.562	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		28	11	28	11
OR9G4	283189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	56510829	56510829	+	Silent	SNP	G	G	A	rs149257582		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:56510829G>A	ENST00000302957.3	-	1	458	c.459C>T	c.(457-459)acC>acT	p.T153T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TACAGAGGGCGGTGGACATGG	0.478																																																0								G		1,4401	2.1+/-5.4	0,1,2200	100.0	104.0	103.0		459	-8.3	0.0	11	dbSNP_134	103	0,8592		0,0,4296	no	coding-synonymous	OR9G4	NM_001005284.1		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		153/328	56510829	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	283189			BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.459C>T	11.37:g.56510829G>A			Q6IF62|Q96RA9	Silent	SNP	ENST00000302957.3	37	CCDS31537.1																																																																																				0.478	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		15	191	15	191
PTGR2	145482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	74347933	74347933	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr14:74347933A>G	ENST00000555661.1	+	8	1022	c.877A>G	c.(877-879)Aaa>Gaa	p.K293E	PTGR2_ENST00000555228.1_Missense_Mutation_p.K293E|RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.K223E|PTGR2_ENST00000553813.1_Missense_Mutation_p.K159E|PTGR2_ENST00000267568.4_Missense_Mutation_p.K293E			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	293					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	ATTAAATTATAAAGACAAATT	0.358																																					Esophageal Squamous(98;1155 1417 16452 47043 47872)											0													75.0	80.0	79.0					14																	74347933		2203	4298	6501	SO:0001583	missense	145482			AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"""zinc binding alcohol dehydrogenase domain containing 1"""	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.877A>G	14.37:g.74347933A>G	ENSP00000452280:p.Lys293Glu		Q3L8A4|Q6MZH8	Missense_Mutation	SNP	ENST00000555661.1	37	CCDS9820.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.348903	0.24426	.	.	ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000258653	ENST00000555228;ENST00000555661;ENST00000267568;ENST00000553813	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.47	4.25	0.50352	NAD(P)-binding domain (1);	0.270197	0.40222	N	0.001159	T	0.58906	0.2155	L	0.31476	0.935	0.33330	D	0.568403	B	0.02656	0.0	B	0.04013	0.001	T	0.62685	-0.6802	10	0.41790	T	0.15	-16.857	6.8246	0.23876	0.7709:0.1531:0.076:0.0	.	293	Q8N8N7	PTGR2_HUMAN	E	293;293;293;159	ENSP00000450975:K293E;ENSP00000452280:K293E;ENSP00000267568:K293E;ENSP00000450824:K159E	ENSP00000267568:K293E	K	+	1	0	RP5-1021I20.4;PTGR2	73417686	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.863000	0.56016	2.071000	0.62044	0.477000	0.44152	AAA		0.358	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1			51	66	51	66
ISLR	3671	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	74467824	74467824	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr15:74467824G>A	ENST00000249842.3	+	2	982	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	ISLR_ENST00000395118.1_Missense_Mutation_p.A209T|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	209	LRRCT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GGACAACATCGCCTGCACCTC	0.652																																																0													59.0	51.0	54.0					15																	74467824		2198	4297	6495	SO:0001583	missense	3671			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.625G>A	15.37:g.74467824G>A	ENSP00000249842:p.Ala209Thr			Missense_Mutation	SNP	ENST00000249842.3	37	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	G	5.887	0.347861	0.11126	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.51817	0.69;0.69	4.21	2.21	0.28008	Cysteine-rich flanking region, C-terminal (1);	0.710257	0.11713	N	0.536708	T	0.19725	0.0474	N	0.10707	0.03	0.32940	D	0.518282	B	0.11235	0.004	B	0.04013	0.001	T	0.37267	-0.9713	10	0.02654	T	1	.	4.1093	0.10052	0.3599:0.2021:0.438:0.0	.	209	O14498	ISLR_HUMAN	T	209	ENSP00000249842:A209T;ENSP00000378550:A209T	ENSP00000249842:A209T	A	+	1	0	ISLR	72254877	0.000000	0.05858	0.987000	0.45799	0.791000	0.44710	0.531000	0.23052	0.666000	0.31087	0.313000	0.20887	GCC		0.652	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		14	52	14	52
CRAMP1L	57585	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	1706072	1706072	+	Silent	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr16:1706072C>T	ENST00000397412.3	+	10	1413	c.1314C>T	c.(1312-1314)gaC>gaT	p.D438D	CRAMP1L_ENST00000293925.5_Silent_p.D438D|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000262317.4_Intron|CRAMP1L_ENST00000436138.3_Silent_p.D435D			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	438						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GTGCCAAGGACGCCCACGTGC	0.706																																																0													12.0	15.0	14.0					16																	1706072		2008	4136	6144	SO:0001819	synonymous_variant	57585			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.1314C>T	16.37:g.1706072C>T			A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	CCDS10440.2																																																																																				0.706	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			10	16	10	16
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	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;	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		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	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	41	26	41
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	0.552		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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	GRCh37	CM941329	TP53	M							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	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;	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.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	22	25	22
ZC3H4	23211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	47570840	47570840	+	Silent	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr19:47570840G>A	ENST00000253048.5	-	15	2722	c.2685C>T	c.(2683-2685)gcC>gcT	p.A895A	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	895							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGGTGGGCAGGGCGCGAGCCA	0.701																																																0													12.0	17.0	15.0					19																	47570840		1886	4112	5998	SO:0001819	synonymous_variant	23211			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2685C>T	19.37:g.47570840G>A			Q9Y420	Silent	SNP	ENST00000253048.5	37	CCDS42582.1																																																																																				0.701	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			13	19	13	19
HIVEP3	59269	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	41978828	41978828	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr1:41978828C>T	ENST00000372583.1	-	8	6949	c.6064G>A	c.(6064-6066)Ggc>Agc	p.G2022S	HIVEP3_ENST00000372584.1_Missense_Mutation_p.G2022S|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G2022S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G2022S	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2022					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)				GGGAGAGCGCCCATGCCCCTT	0.632																																																0													40.0	46.0	44.0					1																	41978828		2203	4300	6503	SO:0001583	missense	59269			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.6064G>A	1.37:g.41978828C>T	ENSP00000361664:p.Gly2022Ser		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.597933	0.00857	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.03745	3.85;3.82;3.82;3.85	2.9	0.614	0.17603	.	0.841393	0.10211	N	0.702111	T	0.01765	0.0056	N	0.04880	-0.145	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.04013	0.001;0.001	T	0.49542	-0.8929	10	0.13853	T	0.58	-1.4287	5.7914	0.18363	0.3029:0.5781:0.0:0.119	.	2022;2022	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	S	2022	ENSP00000361665:G2022S;ENSP00000361664:G2022S;ENSP00000247584:G2022S;ENSP00000410828:G2022S	ENSP00000247584:G2022S	G	-	1	0	HIVEP3	41751415	0.022000	0.18835	0.001000	0.08648	0.002000	0.02628	0.127000	0.15790	0.490000	0.27771	0.655000	0.94253	GGC		0.632	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		31	39	31	39
CD1E	913	hgsc.bcm.edu;ucsc.edu	37	1	158325319	158325319	+	Silent	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr1:158325319G>A	ENST00000368167.3	+	3	824	c.585G>A	c.(583-585)gcG>gcA	p.A195A	CD1E_ENST00000368165.3_Intron|CD1E_ENST00000434258.1_Silent_p.A193A|CD1E_ENST00000368160.3_Silent_p.A195A|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368161.3_Silent_p.A195A|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Silent_p.A195A|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000444681.2_Silent_p.A96A|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368157.1_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	195	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GATTTCTAGCGGGGCTCATGG	0.478																																																0													44.0	45.0	45.0					1																	158325319		1909	4127	6036	SO:0001819	synonymous_variant	913			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.585G>A	1.37:g.158325319G>A			B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	CCDS41417.1																																																																																				0.478	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		4	33	4	33
OR2T1	26696	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	248570030	248570030	+	Silent	SNP	C	C	T	rs148427102		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr1:248570030C>T	ENST00000366474.1	+	1	735	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGCCCTCTACGAGACAGTGA	0.493																																																0								T		1,4405	826.1+/-416.6	0,1,2202	215.0	186.0	196.0		735	-8.3	0.0	1	dbSNP_134	196	0,8600		0,0,4300	no	coding-synonymous	OR2T1	NM_030904.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		245/370	248570030	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26696			U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.735C>T	1.37:g.248570030C>T			Q6IEZ9	Silent	SNP	ENST00000366474.1	37	CCDS31115.1																																																																																				0.493	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			36	49	36	49
MYH7B	57644	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	33581234	33581234	+	Missense_Mutation	SNP	G	G	A	rs370697289		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr20:33581234G>A	ENST00000262873.7	+	24	2623	c.2531G>A	c.(2530-2532)cGc>cAc	p.R844H	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	802						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCCGTGGCCGCCTCATGCGC	0.672																																																0								G	HIS/ARG	0,3964		0,0,1982	13.0	16.0	15.0		2531	0.3	1.0	20		15	1,8289		0,1,4144	no	missense	MYH7B	NM_020884.3	29	0,1,6126	AA,AG,GG		0.0121,0.0,0.0082	benign	844/1984	33581234	1,12253	1982	4145	6127	SO:0001583	missense	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2531G>A	20.37:g.33581234G>A	ENSP00000262873:p.Arg844His		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	7.190	0.591395	0.13812	0.0	1.21E-4	ENSG00000078814	ENST00000262873	T	0.71341	-0.56	4.61	0.258	0.15578	.	0.573793	0.13334	N	0.395697	T	0.45816	0.1361	N	0.11560	0.145	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.29150	-1.0021	10	0.40728	T	0.16	.	5.7554	0.18170	0.3045:0.0:0.5491:0.1464	.	802	A7E2Y1	MYH7B_HUMAN	H	844	ENSP00000262873:R844H	ENSP00000262873:R844H	R	+	2	0	MYH7B	33044895	0.000000	0.05858	0.995000	0.50966	0.648000	0.38561	0.039000	0.13884	0.218000	0.20820	0.655000	0.94253	CGC		0.672	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		14	19	14	19
DGCR2	9993	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	19026633	19026633	+	Splice_Site	SNP	G	G	A	rs146027196		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr22:19026633G>A	ENST00000263196.7	-	10	1645	c.1398C>T	c.(1396-1398)gaC>gaT	p.D466D	DGCR2_ENST00000537045.1_Splice_Site_p.D425D|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	466					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.D466D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					AAGCATCATCGTCTGCAGGAA	0.622																																																1	Substitution - coding silent(1)	large_intestine(1)						G	,,,	1,4401		0,1,2200	35.0	35.0	35.0		1275,1266,1389,1398	-11.2	0.5	22	dbSNP_134	35	0,8598		0,0,4299	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	DGCR2	NM_001173533.1,NM_001173534.1,NM_001184781.1,NM_005137.2	,,,	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	,,,	425/510,422/507,463/548,466/551	19026633	1,12999	2201	4299	6500	SO:0001630	splice_region_variant	9993			D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.1397-1C>T	22.37:g.19026633G>A			A6NIB5|A8K6K5|B5TY34|B7Z935	Splice_Site	SNP	ENST00000263196.7	37	CCDS33598.1																																																																																				0.622	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137	Silent	14	33	14	33
APOB	338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	21226157	21226157	+	Missense_Mutation	SNP	C	C	T	rs149273387	byFrequency	TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:21226157C>T	ENST00000233242.1	-	29	12264	c.12137G>A	c.(12136-12138)cGg>cAg	p.R4046Q	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4046					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAGATTCCCGGACCCTCAA	0.408																																																0								C	GLN/ARG	0,4406		0,0,2203	209.0	235.0	226.0		12137	-6.1	0.0	2	dbSNP_134	226	1,8599		0,1,4299	no	missense	APOB	NM_000384.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	4046/4564	21226157	1,13005	2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12137G>A	2.37:g.21226157C>T	ENSP00000233242:p.Arg4046Gln		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	4.959	0.178210	0.09443	0.0	1.16E-4	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.30981	1.51	5.39	-6.07	0.02158	.	1.950710	0.02199	N	0.062070	T	0.11707	0.0285	N	0.04508	-0.205	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.11616	-1.0580	10	0.28530	T	0.3	.	2.6658	0.05049	0.0931:0.2913:0.1917:0.4239	.	4046	P04114	APOB_HUMAN	Q	4046	ENSP00000233242:R4046Q	ENSP00000233242:R4046Q	R	-	2	0	APOB	21079662	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.132000	0.10467	-0.941000	0.03700	-1.202000	0.01658	CGG		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			122	242	122	242
SCN2A	6326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	166211024	166211024	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:166211024G>C	ENST00000375437.2	+	17	3532	c.3242G>C	c.(3241-3243)aGt>aCt	p.S1081T	SCN2A_ENST00000283256.6_Missense_Mutation_p.S1081T|SCN2A_ENST00000357398.3_Missense_Mutation_p.S1081T|SCN2A_ENST00000375427.2_Missense_Mutation_p.S1081T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1081					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATAGGCAGCAGTGTAGAAAAA	0.388																																																0													106.0	105.0	105.0					2																	166211024		2203	4300	6503	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3242G>C	2.37:g.166211024G>C	ENSP00000364586:p.Ser1081Thr		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767808	0.49574	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.26	5.26	0.73747	Sodium ion transport-associated (1);	0.155104	0.46145	D	0.000305	D	0.91147	0.7212	M	0.75085	2.285	0.44201	D	0.997025	B;D	0.61080	0.091;0.989	B;D	0.83275	0.115;0.996	D	0.91698	0.5371	10	0.62326	D	0.03	.	18.858	0.92260	0.0:0.0:1.0:0.0	.	1081;1081	Q99250-2;Q99250	.;SCN2A_HUMAN	T	1081	ENSP00000364586:S1081T;ENSP00000349973:S1081T;ENSP00000283256:S1081T;ENSP00000364576:S1081T	ENSP00000283256:S1081T	S	+	2	0	SCN2A	165919270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.111000	0.71541	2.447000	0.82792	0.591000	0.81541	AGT		0.388	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		30	52	30	52
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	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.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				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.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			28	50	28	50
ANKRD28	23243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	15719776	15719776	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:15719776C>T	ENST00000399451.2	-	24	2924	c.2557G>A	c.(2557-2559)Gac>Aac	p.D853N	ANKRD28_ENST00000383777.1_Missense_Mutation_p.D886N|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	853						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CCTGTAGAGTCCACAGAATTG	0.398																																																0													107.0	99.0	102.0					3																	15719776		1878	4122	6000	SO:0001583	missense	23243			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2557G>A	3.37:g.15719776C>T	ENSP00000382379:p.Asp853Asn		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159820	0.94727	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.17054	2.33;2.3;2.33	5.45	5.45	0.79879	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.39226	0.1070	L	0.56396	1.775	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	T	0.04440	-1.0951	10	0.49607	T	0.09	.	19.2979	0.94131	0.0:1.0:0.0:0.0	.	853	O15084	ANR28_HUMAN	N	853;886;853	ENSP00000382379:D853N;ENSP00000373287:D886N;ENSP00000397341:D853N	ENSP00000373287:D886N	D	-	1	0	ANKRD28	15694780	1.000000	0.71417	0.967000	0.41034	0.685000	0.39939	7.818000	0.86416	2.559000	0.86315	0.650000	0.86243	GAC		0.398	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		17	17	17	17
SATB1	6304	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	18435971	18435971	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:18435971C>A	ENST00000338745.6	-	7	2923	c.1189G>T	c.(1189-1191)Gct>Tct	p.A397S	SATB1_ENST00000417717.2_Missense_Mutation_p.A397S|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.A397S|SATB1_ENST00000475083.1_5'Flank	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	397					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTGTTAAAAGCCACACGTGCA	0.433																																																0													131.0	120.0	124.0					3																	18435971		2203	4300	6503	SO:0001583	missense	6304				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1189G>T	3.37:g.18435971C>A	ENSP00000341024:p.Ala397Ser		B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262741	0.95399	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.52754	0.66;0.66;0.65	5.93	5.93	0.95920	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.048458	0.85682	N	0.000000	T	0.66509	0.2796	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.986;1.0	T	0.65018	-0.6270	10	0.62326	D	0.03	-17.4866	20.3539	0.98825	0.0:1.0:0.0:0.0	.	397;397	Q01826-2;Q01826	.;SATB1_HUMAN	S	397	ENSP00000341024:A397S;ENSP00000399708:A397S;ENSP00000399518:A397S	ENSP00000341024:A397S	A	-	1	0	SATB1	18410975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.815000	0.86186	2.826000	0.97356	0.655000	0.94253	GCT		0.433	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		47	104	47	104
SLC4A7	9497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	27439832	27439832	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:27439832G>C	ENST00000295736.5	-	17	2483	c.2413C>G	c.(2413-2415)Ctt>Gtt	p.L805V	SLC4A7_ENST00000454389.1_Missense_Mutation_p.L814V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L801V|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L681V|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L797V|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L686V|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L690V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L686V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L801V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L355V|SLC4A7_ENST00000425128.2_3'UTR	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	805					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ACACCACGAAGTTTTTTACAT	0.363																																																0													86.0	88.0	88.0					3																	27439832		2203	4300	6503	SO:0001583	missense	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2413C>G	3.37:g.27439832G>C	ENSP00000295736:p.Leu805Val		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	5.476	0.272776	0.10349	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.71	1.92	0.25849	Bicarbonate transporter, C-terminal (1);	0.355203	0.32769	N	0.005675	T	0.67674	0.2918	L	0.51422	1.61	0.09310	N	0.999992	B;B;B;B;B;B;B;B;B	0.17465	0.022;0.022;0.009;0.002;0.001;0.0;0.018;0.022;0.0	B;B;B;B;B;B;B;B;B	0.32211	0.142;0.142;0.099;0.013;0.014;0.004;0.087;0.142;0.008	T	0.53507	-0.8429	10	0.26408	T	0.33	.	2.4888	0.04605	0.6116:0.1289:0.136:0.1234	.	801;686;797;801;814;355;681;805;686	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	V	356;805;681;814;801;686;797;686;801;690;355;701	ENSP00000411031:L356V;ENSP00000295736:L805V;ENSP00000416368:L681V;ENSP00000390394:L814V;ENSP00000414797:L801V;ENSP00000394252:L686V;ENSP00000406605:L797V;ENSP00000407382:L686V;ENSP00000406804:L801V;ENSP00000395336:L690V;ENSP00000373429:L355V;ENSP00000388703:L701V	ENSP00000295736:L805V	L	-	1	0	SLC4A7	27414836	0.044000	0.20184	0.017000	0.16124	0.608000	0.37181	1.961000	0.40432	0.083000	0.17047	-1.339000	0.01253	CTT		0.363	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		50	48	50	48
MYH15	22989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	108195254	108195254	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:108195254G>A	ENST00000273353.3	-	13	1339	c.1283C>T	c.(1282-1284)aCt>aTt	p.T428I		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	428	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTGTTCTATAGTTTGACCTCT	0.338																																																0													77.0	73.0	74.0					3																	108195254		1848	4094	5942	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1283C>T	3.37:g.108195254G>A	ENSP00000273353:p.Thr428Ile			Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549009	0.45383	.	.	ENSG00000144821	ENST00000273353	T	0.73789	-0.78	5.98	-8.2	0.01045	Myosin head, motor domain (2);	.	.	.	.	D	0.86356	0.5913	H	0.96691	3.865	0.09310	N	0.999995	P	0.47762	0.9	P	0.58577	0.841	T	0.82940	-0.0208	9	0.87932	D	0	.	10.7785	0.46363	0.1597:0.0706:0.6613:0.1084	.	428	Q9Y2K3	MYH15_HUMAN	I	428	ENSP00000273353:T428I	ENSP00000273353:T428I	T	-	2	0	MYH15	109677944	0.003000	0.15002	0.003000	0.11579	0.626000	0.37791	-2.771000	0.00779	-1.136000	0.02892	-0.271000	0.10264	ACT		0.338	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		28	26	28	26
HCN1	348980	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	45262407	45262407	+	Silent	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr5:45262407C>T	ENST00000303230.4	-	8	2346	c.2289G>A	c.(2287-2289)ccG>ccA	p.P763P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	763					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTCATTTTTCGGCGTGGAGC	0.652																																																0													70.0	69.0	69.0					5																	45262407		2203	4300	6503	SO:0001819	synonymous_variant	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2289G>A	5.37:g.45262407C>T				Silent	SNP	ENST00000303230.4	37	CCDS3952.1																																																																																				0.652	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		33	35	33	35
ERAP2	64167	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	96215430	96215430	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr5:96215430C>T	ENST00000437043.3	+	2	752	c.41C>T	c.(40-42)cCa>cTa	p.P14L	ERAP2_ENST00000510309.1_Missense_Mutation_p.P14L|ERAP2_ENST00000379904.4_Missense_Mutation_p.P14L|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	14					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CACAGAAAACCAATGTTTAAC	0.373																																																0													119.0	110.0	113.0					5																	96215430		2203	4300	6503	SO:0001583	missense	64167			AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.41C>T	5.37:g.96215430C>T	ENSP00000400376:p.Pro14Leu		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	C	0.540	-0.854129	0.02630	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904;ENST00000510309	T;T;T;T;T	0.04654	5.16;4.76;4.2;5.1;3.58	4.08	-0.0165	0.13972	.	1.765390	0.04011	N	0.298107	T	0.02012	0.0063	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41574	-0.9501	10	0.08381	T	0.77	.	2.4534	0.04524	0.2105:0.2878:0.0:0.5016	.	14;14	Q6P179-3;Q6P179	.;ERAP2_HUMAN	L	14	ENSP00000400376:P14L;ENSP00000421175:P14L;ENSP00000421849:P14L;ENSP00000369235:P14L;ENSP00000425758:P14L	ENSP00000369235:P14L	P	+	2	0	ERAP2	96241186	0.005000	0.15991	0.013000	0.15412	0.009000	0.06853	-0.075000	0.11431	0.148000	0.19059	-0.261000	0.10672	CCA		0.373	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		8	92	8	92
LIMK1	3984	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	73511062	73511062	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr7:73511062C>G	ENST00000336180.2	+	3	314	c.263C>G	c.(262-264)tCt>tGt	p.S88C	LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000418310.1_Missense_Mutation_p.S118C|LIMK1_ENST00000538333.3_Missense_Mutation_p.S54C	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	88	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	CATGGGTGCTCTGAGCAAATC	0.597																																																0													78.0	75.0	76.0					7																	73511062		2203	4300	6503	SO:0001583	missense	3984			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.263C>G	7.37:g.73511062C>G	ENSP00000336740:p.Ser88Cys		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584680	0.65992	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000423685;ENST00000538333	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.61	5.61	0.85477	Zinc finger, LIM-type (5);	0.264840	0.36854	N	0.002375	D	0.92573	0.7641	M	0.74881	2.28	0.44834	D	0.997845	P;P	0.52577	0.954;0.954	P;P	0.61533	0.89;0.89	D	0.93009	0.6430	10	0.72032	D	0.01	-17.0849	17.1985	0.86900	0.0:1.0:0.0:0.0	.	54;88	B7Z6I8;P53667	.;LIMK1_HUMAN	C	118;88;88;54;54	ENSP00000409717:S118C;ENSP00000336740:S88C;ENSP00000396480:S54C;ENSP00000444452:S54C	ENSP00000336740:S88C	S	+	2	0	LIMK1	73148998	0.972000	0.33761	0.991000	0.47740	0.993000	0.82548	2.421000	0.44688	2.655000	0.90218	0.650000	0.86243	TCT		0.597	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		18	40	18	40
LRRCC1	85444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	86021973	86021973	+	Missense_Mutation	SNP	T	T	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr8:86021973T>G	ENST00000360375.3	+	2	397	c.248T>G	c.(247-249)cTa>cGa	p.L83R	LRRCC1_ENST00000414626.2_Missense_Mutation_p.L63R	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	83					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATTGAAGGACTAAACACACTG	0.323																																																0													68.0	62.0	64.0					8																	86021973		1847	4081	5928	SO:0001583	missense	85444			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.248T>G	8.37:g.86021973T>G	ENSP00000353538:p.Leu83Arg		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108373	0.77096	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.34275	1.37;1.37	5.79	5.79	0.91817	.	0.000000	0.32343	N	0.006230	T	0.74261	0.3693	H	0.97491	4.015	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.84297	0.0503	10	0.87932	D	0	-7.8533	16.1169	0.81309	0.0:0.0:0.0:1.0	.	63;83	Q9C099-2;Q9C099	.;LRCC1_HUMAN	R	83;63	ENSP00000353538:L83R;ENSP00000394695:L63R	ENSP00000353538:L83R	L	+	2	0	LRRCC1	86209225	1.000000	0.71417	0.902000	0.35471	0.727000	0.41649	7.552000	0.82192	2.205000	0.71048	0.482000	0.46254	CTA		0.323	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		9	12	9	12
RASEF	158158	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	85607825	85607825	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:85607825G>C	ENST00000376447.3	-	15	2296	c.2036C>G	c.(2035-2037)gCc>gGc	p.A679G		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	679					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCTTACCATGGCCAGTTTCTC	0.473																																																0													165.0	154.0	158.0					9																	85607825		2203	4300	6503	SO:0001583	missense	158158			AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.2036C>G	9.37:g.85607825G>C	ENSP00000365630:p.Ala679Gly		A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	G	32	5.186540	0.94885	.	.	ENSG00000165105	ENST00000376447	D	0.82344	-1.6	5.57	5.57	0.84162	Small GTP-binding protein domain (1);	0.056938	0.64402	D	0.000001	D	0.92450	0.7603	M	0.87269	2.87	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.93305	0.6680	10	0.87932	D	0	.	19.1665	0.93560	0.0:0.0:1.0:0.0	.	679	Q8IZ41	RASEF_HUMAN	G	679	ENSP00000365630:A679G	ENSP00000365630:A679G	A	-	2	0	RASEF	84797645	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.726000	0.98782	2.622000	0.88805	0.655000	0.94253	GCC		0.473	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		82	184	82	184
ZNF189	7743	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	104170609	104170609	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:104170609C>T	ENST00000339664.2	+	3	688	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	ZNF189_ENST00000374861.3_Missense_Mutation_p.R173C|ZNF189_ENST00000259395.4_Missense_Mutation_p.R145C	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	187					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAGTTTTAGTCGCAGTTCATT	0.413																																																0													82.0	84.0	83.0					9																	104170609		2203	4300	6503	SO:0001583	missense	7743			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.559C>T	9.37:g.104170609C>T	ENSP00000342019:p.Arg187Cys		O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.206983	0.39003	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.19532	2.14;2.14;2.14	4.66	4.66	0.58398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000176	T	0.20088	0.0483	L	0.49571	1.57	0.45378	D	0.998363	B;P;B	0.36495	0.164;0.556;0.354	B;B;B	0.30029	0.023;0.101;0.11	T	0.03384	-1.1042	10	0.52906	T	0.07	.	15.8687	0.79091	0.0:1.0:0.0:0.0	.	172;173;187	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	C	173;187;145	ENSP00000363995:R173C;ENSP00000342019:R187C;ENSP00000259395:R145C	ENSP00000259395:R145C	R	+	1	0	ZNF189	103210430	0.000000	0.05858	1.000000	0.80357	0.931000	0.56810	-1.107000	0.03316	2.873000	0.98535	0.563000	0.77884	CGC		0.413	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		37	112	37	112
CAMSAP1	157922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	138713009	138713009	+	Silent	SNP	G	G	A	rs183813341	byFrequency	TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:138713009G>A	ENST00000389532.4	-	11	3562	c.3498C>T	c.(3496-3498)ttC>ttT	p.F1166F	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.F1177F|CAMSAP1_ENST00000312405.6_Silent_p.F888F	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1166					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGTAACTGTCGAAGAGACACT	0.567													G|||	2	0.000399361	0.0	0.0	5008	,	,		18728	0.002		0.0	False		,,,				2504	0.0															0													94.0	99.0	97.0					9																	138713009		2203	4300	6503	SO:0001819	synonymous_variant	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3498C>T	9.37:g.138713009G>A			A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	CCDS35176.2																																																																																				0.567	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		107	112	107	112
PBDC1	51260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	75396760	75396760	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:75396760C>G	ENST00000373358.3	+	5	545	c.342C>G	c.(340-342)gaC>gaG	p.D114E	PBDC1_ENST00000373357.3_Intron	NM_016500.3	NP_057584.2	Q9BVG4	PBDC1_HUMAN	polysaccharide biosynthesis domain containing 1	114																	TTGTTGAAGACTTCAACTATG	0.423																																																0													228.0	184.0	199.0					X																	75396760		2203	4300	6503	SO:0001583	missense	51260			BC001220	CCDS14432.1, CCDS75995.1	Xq13.2	2012-11-28	2012-11-28	2012-11-28	ENSG00000102390	ENSG00000102390			28790	protein-coding gene	gene with protein product			"""chromosome X open reading frame 26"""	CXorf26		11042152	Standard	NM_016500		Approved	MGC874	uc004ecl.1	Q9BVG4	OTTHUMG00000021876	ENST00000373358.3:c.342C>G	X.37:g.75396760C>G	ENSP00000362456:p.Asp114Glu			Missense_Mutation	SNP	ENST00000373358.3	37	CCDS14432.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465181	0.63513	.	.	ENSG00000102390	ENST00000373358	.	.	.	4.94	-0.49	0.12049	Yst0336-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	M	0.88181	2.935	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.75764	-0.3203	9	0.56958	D	0.05	-7.0775	9.1123	0.36734	0.0:0.291:0.0:0.709	.	114	Q9BVG4	CX026_HUMAN	E	114	.	ENSP00000362456:D114E	D	+	3	2	CXorf26	75313163	1.000000	0.71417	0.995000	0.50966	0.932000	0.56968	0.851000	0.27751	-0.124000	0.11724	-0.297000	0.09499	GAC		0.423	PBDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057294.1	NM_016500		34	88	34	88
ATRX	546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	76940431	76940431	+	Splice_Site	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:76940431C>T	ENST00000373344.5	-	8	876	c.662G>A	c.(661-663)aGg>aAg	p.R221K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.R183K	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	221	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				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						TATTACCTACCTACATTGTTC	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											151.0	127.0	135.0					X																	76940431		2203	4291	6494	SO:0001630	splice_region_variant	546			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.662+1G>A	X.37:g.76940431C>T			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156533	0.78114	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.95554	-3.74;-3.74	5.54	5.54	0.83059	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.97093	0.9050	L	0.58669	1.825	0.80722	D	1	P;D;P;P	0.67145	0.889;0.996;0.933;0.911	D;D;D;D	0.83275	0.958;0.996;0.981;0.97	D	0.96814	0.9599	9	.	.	.	-15.232	18.4755	0.90791	0.0:1.0:0.0:0.0	.	221;182;183;221	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	K	221;183;177	ENSP00000362441:R221K;ENSP00000378967:R183K	.	R	-	2	0	ATRX	76827087	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.415000	0.80131	2.306000	0.77630	0.422000	0.28245	AGG		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Missense_Mutation	36	71	36	71
PLS3	5358	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	114882253	114882253	+	Missense_Mutation	SNP	T	T	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:114882253T>G	ENST00000420625.2	+	15	1810	c.1676T>G	c.(1675-1677)aTt>aGt	p.I559S	PLS3_ENST00000355899.3_Missense_Mutation_p.I559S|PLS3_ENST00000539310.1_Missense_Mutation_p.I514S|PLS3_ENST00000543070.1_Missense_Mutation_p.I153S|PLS3_ENST00000289290.3_Missense_Mutation_p.I523S|PLS3_ENST00000537301.1_Missense_Mutation_p.I546S	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	559	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GTGGATTTAATTGATGCCATC	0.403																																					Colon(160;1047 1864 8490 12969 29601)											0													185.0	159.0	168.0					X																	114882253		2203	4300	6503	SO:0001583	missense	5358			L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.1676T>G	X.37:g.114882253T>G	ENSP00000398945:p.Ile559Ser		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.506872	0.85282	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310;ENST00000543070	D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.79	5.79	0.91817	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98308	0.9439	M	0.90705	3.14	0.80722	D	1	D;D;D	0.71674	0.998;0.982;0.991	D;D;D	0.77557	0.99;0.943;0.958	D	0.99282	1.0896	10	0.87932	D	0	0.2228	13.8643	0.63578	0.0:0.0:0.0:1.0	.	532;546;559	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	S	559;546;523;559;514;153	ENSP00000348163:I559S;ENSP00000445105:I546S;ENSP00000289290:I523S;ENSP00000398945:I559S;ENSP00000445339:I514S;ENSP00000439260:I153S	ENSP00000289290:I523S	I	+	2	0	PLS3	114788509	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.930000	0.87610	1.955000	0.56771	0.441000	0.28932	ATT		0.403	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			66	108	66	108
ZNF275	10838	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	152612569	152612569	+	Silent	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:152612569G>A	ENST00000421401.3	+	4	603	c.426G>A	c.(424-426)gcG>gcA	p.A142A	ZNF275_ENST00000440091.1_Silent_p.A172A|ZNF275_ENST00000370249.2_Silent_p.A89A|ZNF275_ENST00000370251.3_Silent_p.A142A			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGGTGGCGGAGTTTAATG	0.607																																																0													39.0	42.0	41.0					X																	152612569		2048	4173	6221	SO:0001819	synonymous_variant	10838			BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.426G>A	X.37:g.152612569G>A			A6NE92	Silent	SNP	ENST00000421401.3	37																																																																																					0.607	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485		19	19	19	19
CANT1	124583	broad.mit.edu;ucsc.edu	37	17	76991172	76991172	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:76991172C>T	ENST00000302345.2	-	3	1257	c.763G>A	c.(763-765)Ggc>Agc	p.G255S	CANT1_ENST00000392446.5_Missense_Mutation_p.G255S|CANT1_ENST00000591773.1_Missense_Mutation_p.G255S	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	255					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCCACGCTGCCCTTGTAGCCC	0.652			T	ETV4	prostate																																		Dom	yes		17	17q25	124583	calcium activated nucleotidase 1		E	0													85.0	68.0	74.0					17																	76991172		2203	4300	6503	SO:0001583	missense	124583			AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.763G>A	17.37:g.76991172C>T	ENSP00000307674:p.Gly255Ser		B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819975	0.90873	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000339300	D;D	0.94723	-3.5;-3.5	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.97554	0.9199	M	0.88105	2.93	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.98175	1.0454	10	0.54805	T	0.06	-37.8737	17.3886	0.87424	0.0:1.0:0.0:0.0	.	255	Q8WVQ1	CANT1_HUMAN	S	255;255;204	ENSP00000307674:G255S;ENSP00000376241:G255S	ENSP00000307674:G255S	G	-	1	0	CANT1	74502767	1.000000	0.71417	0.943000	0.38184	0.635000	0.38103	7.291000	0.78721	2.092000	0.63282	0.462000	0.41574	GGC		0.652	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		3	3	3	3
AKAP5	9495	broad.mit.edu;hgsc.bcm.edu	37	14	64936370	64936374	+	Frame_Shift_Del	DEL	AATAA	AATAA	-			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr14:64936370_64936374delAATAA	ENST00000394718.4	+	2	1636_1640	c.1258_1262delAATAA	c.(1258-1263)aataaafs	p.NK420fs	ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000320636.5_Frame_Shift_Del_p.NK420fs	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	420					energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		CTCTGATGATAATAAAATAAACAAT	0.341																																																0										1,4257		0,1,2128						1.5	1.0			74	1,8237		0,1,4118	no	frameshift	AKAP5	NM_004857.3		0,2,6246	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12494				SO:0001589	frameshift_variant	9495			M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.1258_1262delAATAA	14.37:g.64936375_64936379delAATAA	ENSP00000378207:p.Asn420fs		A2RRB8	Frame_Shift_Del	DEL	ENST00000394718.4	37	CCDS9764.1																																																																																				0.341	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3			21	86	21	86
