#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
ITIH2	3698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	7786812	7786812	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr10:7786812T>C	ENST00000358415.4	+	19	2633	c.2467T>C	c.(2467-2469)Tcc>Ccc	p.S823P	ITIH2_ENST00000379587.4_Missense_Mutation_p.S812P	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	823					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAAAGAGATGTCCTTTTCTGT	0.418																																																0													153.0	142.0	146.0					10																	7786812		2203	4300	6503	SO:0001583	missense	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2467T>C	10.37:g.7786812T>C	ENSP00000351190:p.Ser823Pro		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.302604	0.60195	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.12465	2.68;2.68	5.79	5.79	0.91817	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.504726	0.22346	N	0.061280	T	0.30823	0.0777	M	0.80183	2.485	0.30630	N	0.757559	D	0.56521	0.976	P	0.54210	0.745	T	0.43294	-0.9400	10	0.66056	D	0.02	-8.8167	11.2291	0.48901	0.1367:0.0:0.0:0.8633	.	823	P19823	ITIH2_HUMAN	P	823;812	ENSP00000351190:S823P;ENSP00000368906:S812P	ENSP00000351190:S823P	S	+	1	0	ITIH2	7826818	1.000000	0.71417	0.996000	0.52242	0.690000	0.40134	3.591000	0.53986	2.209000	0.71365	0.482000	0.46254	TCC		0.418	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		23	50	23	50
VCL	7414	hgsc.bcm.edu;broad.mit.edu	37	10	75834513	75834513	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr10:75834513T>G	ENST00000211998.4	+	6	729	c.635T>G	c.(634-636)tTt>tGt	p.F212C	VCL_ENST00000372755.3_Missense_Mutation_p.F212C|VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	212	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					ATGAAGATTTTTGTAACAACT	0.269																																																0													64.0	70.0	68.0					10																	75834513		2202	4299	6501	SO:0001583	missense	7414			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.635T>G	10.37:g.75834513T>G	ENSP00000211998:p.Phe212Cys		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.238144	0.79800	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043	T;T	0.44482	0.92;0.92	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.984;1.0	P;D	0.91635	0.854;0.999	T	0.67987	-0.5528	10	0.48119	T	0.1	.	16.0553	0.80798	0.0:0.0:0.0:1.0	.	212;212	P18206-2;P18206	.;VINC_HUMAN	C	212;212;119;139	ENSP00000361841:F212C;ENSP00000211998:F212C	ENSP00000211998:F212C	F	+	2	0	VCL	75504519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.728000	0.62000	2.185000	0.69588	0.529000	0.55759	TTT		0.269	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		9	157	9	157
CTSC	1075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	88042410	88042410	+	Missense_Mutation	SNP	T	T	C	rs374844651		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr11:88042410T>C	ENST00000227266.5	-	4	676	c.562A>G	c.(562-564)Act>Gct	p.T188A		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	188					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATGTATGTAGTTGCAGTCCAA	0.388																																																0								T	ALA/THR	1,4401	2.1+/-5.4	0,1,2200	165.0	143.0	151.0		562	4.8	1.0	11		151	0,8598		0,0,4299	no	missense	CTSC	NM_001814.4	58	0,1,6499	CC,CT,TT		0.0,0.0227,0.0077	benign	188/464	88042410	1,12999	2201	4299	6500	SO:0001583	missense	1075			AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.562A>G	11.37:g.88042410T>C	ENSP00000227266:p.Thr188Ala		A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	ENST00000227266.5	37	CCDS8282.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.669632	0.47677	2.27E-4	0.0	ENSG00000109861	ENST00000393302;ENST00000227266	D	0.83335	-1.71	5.91	4.78	0.61160	.	0.264374	0.43260	N	0.000600	T	0.78136	0.4236	L	0.54323	1.7	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.13407	0.005;0.009	T	0.70813	-0.4770	9	.	.	.	.	11.6512	0.51290	0.0:0.0698:0.0:0.9302	.	171;188	B4DJQ8;P53634	.;CATC_HUMAN	A	171;188	ENSP00000227266:T188A	.	T	-	1	0	CTSC	87682058	1.000000	0.71417	0.991000	0.47740	0.962000	0.63368	2.228000	0.42981	1.059000	0.40554	0.528000	0.53228	ACT		0.388	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		35	50	35	50
CACNA2D4	93589	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	1992145	1992145	+	Missense_Mutation	SNP	G	G	A	rs373696894		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:1992145G>A	ENST00000382722.5	-	13	1735	c.1373C>T	c.(1372-1374)aCg>aTg	p.T458M	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T394M|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.T343M|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T458M|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T458M|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T394M	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	458	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.T458M(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTCCGCCAGCGTTGAGATCTG	0.642																																					Colon(2;101 179 21030 23310 28141)											1	Substitution - Missense(1)	NS(1)						G	MET/THR	1,4225		0,1,2112	64.0	67.0	66.0		1373	5.4	0.9	12		66	1,8457		0,1,4228	no	missense	CACNA2D4	NM_172364.4	81	0,2,6340	AA,AG,GG		0.0118,0.0237,0.0158	probably-damaging	458/1138	1992145	2,12682	2113	4229	6342	SO:0001583	missense	93589			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1373C>T	12.37:g.1992145G>A	ENSP00000372169:p.Thr458Met		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679860	0.88542	2.37E-4	1.18E-4	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.14516	2.5	5.43	5.43	0.79202	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.44201	0.1282	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.46693	-0.9173	10	0.87932	D	0	.	19.2563	0.93947	0.0:0.0:1.0:0.0	.	458;458	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	M	394;458;458	ENSP00000372169:T458M	ENSP00000280663:T458M	T	-	2	0	CACNA2D4	1862406	1.000000	0.71417	0.944000	0.38274	0.775000	0.43874	9.476000	0.97823	2.545000	0.85829	0.462000	0.41574	ACG		0.642	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			13	23	13	23
LPAR5	57121	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	6729924	6729924	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:6729924C>T	ENST00000329858.4	-	2	1247	c.491G>A	c.(490-492)cGt>cAt	p.R164H	LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Missense_Mutation_p.R164H	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						GTAGCGGCAACGCGAGGGCCT	0.726																																					NSCLC(74;891 2312 37538)											0													7.0	9.0	9.0					12																	6729924		2125	4238	6363	SO:0001583	missense	57121			AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.491G>A	12.37:g.6729924C>T	ENSP00000327875:p.Arg164His			Missense_Mutation	SNP	ENST00000329858.4	37	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	C	8.212	0.800438	0.16397	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.37058	1.22;1.22	4.99	-3.94	0.04130	GPCR, rhodopsin-like superfamily (1);	1.397770	0.04655	N	0.407845	T	0.18676	0.0448	N	0.16368	0.405	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.11867	-1.0570	10	0.41790	T	0.15	.	1.6769	0.02823	0.1537:0.2956:0.1603:0.3905	.	164	Q9H1C0	LPAR5_HUMAN	H	164	ENSP00000327875:R164H;ENSP00000393098:R164H	ENSP00000327875:R164H	R	-	2	0	LPAR5	6600185	0.000000	0.05858	0.003000	0.11579	0.184000	0.23303	-2.342000	0.01099	-1.089000	0.03073	-0.397000	0.06425	CGT		0.726	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		5	11	5	11
BICD1	636	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	32480873	32480873	+	Missense_Mutation	SNP	A	A	G	rs116296656	byFrequency	TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:32480873A>G	ENST00000281474.5	+	5	1587	c.1484A>G	c.(1483-1485)aAc>aGc	p.N495S	BICD1_ENST00000548411.1_Missense_Mutation_p.N495S	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	495					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCATAGCCAACGAAAATCAC	0.458													A|||	3	0.000599042	0.0	0.0	5008	,	,		20985	0.003		0.0	False		,,,				2504	0.0															0													148.0	121.0	130.0					12																	32480873		2203	4300	6503	SO:0001583	missense	636			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1484A>G	12.37:g.32480873A>G	ENSP00000281474:p.Asn495Ser		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	A	0.079	-1.186406	0.01620	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.40225	1.04;1.04	5.57	4.32	0.51571	.	0.124349	0.53938	D	0.000046	T	0.22003	0.0530	N	0.10809	0.05	0.80722	D	1	B;B	0.22909	0.008;0.077	B;B	0.24848	0.011;0.056	T	0.04930	-1.0917	10	0.13108	T	0.6	.	9.5991	0.39591	0.8987:0.0:0.1013:0.0	.	495;495	F8W113;Q96G01	.;BICD1_HUMAN	S	495	ENSP00000446793:N495S;ENSP00000281474:N495S	ENSP00000281474:N495S	N	+	2	0	BICD1	32372140	0.978000	0.34361	0.977000	0.42913	0.680000	0.39746	2.667000	0.46808	0.811000	0.34303	0.533000	0.62120	AAC		0.458	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		29	64	29	64
COG3	83548	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	46092961	46092961	+	Silent	SNP	T	T	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr13:46092961T>C	ENST00000349995.5	+	18	2107	c.1995T>C	c.(1993-1995)aaT>aaC	p.N665N		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	665					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		ATAGCAACAATGCCTTGATAG	0.393																																					Ovarian(150;1048 1859 18083 21577 42700)											0													128.0	119.0	122.0					13																	46092961		2203	4300	6503	SO:0001819	synonymous_variant	83548			AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1995T>C	13.37:g.46092961T>C			B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Silent	SNP	ENST00000349995.5	37	CCDS9398.1																																																																																				0.393	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			28	96	28	96
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577129	7577129	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:7577129A>G	ENST00000269305.4	-	8	998	c.809T>C	c.(808-810)tTt>tCt	p.F270S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.F270S|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.F270S|TP53_ENST00000445888.2_Missense_Mutation_p.F270S|TP53_ENST00000359597.4_Missense_Mutation_p.F270S	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	270	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; 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.F270C(15)|p.0?(8)|p.F270S(8)|p.F270Y(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(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)	ACGCACCTCAAAGCTGTTCCG	0.537		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"""	48	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(4)|Unknown(2)	oesophagus(10)|breast(8)|upper_aerodigestive_tract(5)|large_intestine(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(2)|ovary(2)|salivary_gland(1)|lung(1)|eye(1)|pancreas(1)											57.0	50.0	53.0					17																	7577129		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.809T>C	17.37:g.7577129A>G	ENSP00000269305:p.Phe270Ser		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	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262404	0.80358	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99815	-6.9;-6.9;-6.9;-6.9;-6.9;-6.9	5.13	5.13	0.70059	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	0.99806	0.9916	M	0.86740	2.835	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.994;1.0;0.999	D;D;D;D	0.83275	0.996;0.931;0.996;0.996	D	0.96817	0.9601	10	0.87932	D	0	-25.5181	12.9367	0.58319	1.0:0.0:0.0:0.0	.	270;270;270;270	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	S	270;270;270;270;270;259;138	ENSP00000352610:F270S;ENSP00000269305:F270S;ENSP00000398846:F270S;ENSP00000391127:F270S;ENSP00000391478:F270S;ENSP00000425104:F138S	ENSP00000269305:F270S	F	-	2	0	TP53	7517854	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.040000	0.76551	2.154000	0.67381	0.379000	0.24179	TTT		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	6	19	6
FPGT-TNNI3K	100526835	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	74801804	74801804	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:74801804T>C	ENST00000370899.3	+	9	993	c.956T>C	c.(955-957)cTc>cCc	p.L319P	TNNI3K_ENST00000326637.3_Missense_Mutation_p.L218P|TNNI3K_ENST00000370891.2_Missense_Mutation_p.L319P|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.L319P|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.L332P	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		ATTGCAAAACTCTTGATGGAA	0.353																																																0													91.0	87.0	88.0					1																	74801804		2203	4300	6503	SO:0001583	missense	100526835					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.956T>C	1.37:g.74801804T>C	ENSP00000359936:p.Leu319Pro			Missense_Mutation	SNP	ENST00000370899.3	37		.	.	.	.	.	.	.	.	.	.	T	21.5	4.158976	0.78226	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.70164	-0.38;-0.38;-0.46;-0.46;-0.38	5.13	5.13	0.70059	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000002	T	0.82006	0.4943	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.984;0.984;0.998	D	0.85962	0.1471	10	0.66056	D	0.02	.	15.0968	0.72242	0.0:0.0:0.0:1.0	.	218;319;319;319	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	P	319;319;319;319;218	ENSP00000359936:L319P;ENSP00000359932:L319P;ENSP00000450895:L319P;ENSP00000359928:L319P;ENSP00000322251:L218P	ENSP00000322251:L218P	L	+	2	0	RP11-653A5.2;AC093158.1	74574392	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	7.334000	0.79224	2.155000	0.67459	0.477000	0.44152	CTC		0.353	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			22	50	22	50
AKNAD1	254268	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	109380254	109380254	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:109380254T>C	ENST00000370001.3	-	7	1722	c.1454A>G	c.(1453-1455)tAt>tGt	p.Y485C	AKNAD1_ENST00000369995.3_Missense_Mutation_p.Y485C|AKNAD1_ENST00000357393.4_Missense_Mutation_p.Y192C|AKNAD1_ENST00000369994.1_Missense_Mutation_p.Y485C	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	485						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AGCTGAAGTATATTTGCTTTC	0.403																																																0													215.0	190.0	198.0					1																	109380254		2203	4300	6503	SO:0001583	missense	254268			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1454A>G	1.37:g.109380254T>C	ENSP00000359018:p.Tyr485Cys		B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	10.33	1.320988	0.23994	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.14391	3.27;2.51;3.27;3.26	5.72	-8.74	0.00838	.	2.699470	0.00950	N	0.002953	T	0.02083	0.0065	N	0.12182	0.205	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.08055	0.003;0.002	T	0.32798	-0.9893	10	0.38643	T	0.18	1.5494	10.0799	0.42384	0.0:0.5434:0.2513:0.2053	.	192;485	B4DET8;Q5T1N1	.;AKND1_HUMAN	C	485;192;485;485	ENSP00000359018:Y485C;ENSP00000349968:Y192C;ENSP00000359011:Y485C;ENSP00000359012:Y485C	ENSP00000349968:Y192C	Y	-	2	0	AKNAD1	109181777	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.383000	0.02544	-1.054000	0.03214	0.460000	0.39030	TAT		0.403	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		12	104	12	104
DCST2	127579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	155005617	155005617	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:155005617A>C	ENST00000368424.3	-	2	450	c.392T>G	c.(391-393)cTg>cGg	p.L131R	DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000392480.1_5'Flank|DCST2_ENST00000295536.5_Missense_Mutation_p.L131R|DCST1_ENST00000295542.1_5'Flank|DCST1_ENST00000423025.2_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	131						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGTCTGGTTCAGGGCCAGCTC	0.632																																																0													49.0	43.0	45.0					1																	155005617		2203	4300	6503	SO:0001583	missense	127579			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.392T>G	1.37:g.155005617A>C	ENSP00000357409:p.Leu131Arg		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	A	14.22	2.470292	0.43942	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.25912	1.77;1.82	4.75	4.75	0.60458	.	0.533626	0.16205	N	0.224755	T	0.11836	0.0288	L	0.57536	1.79	0.28782	N	0.899789	B	0.28636	0.218	B	0.28638	0.092	T	0.10382	-1.0632	10	0.22706	T	0.39	-17.5759	11.8579	0.52449	1.0:0.0:0.0:0.0	.	131	Q5T1A1	DCST2_HUMAN	R	131	ENSP00000357409:L131R;ENSP00000295536:L131R	ENSP00000295536:L131R	L	-	2	0	DCST2	153272241	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	3.298000	0.51818	2.007000	0.58848	0.379000	0.24179	CTG		0.632	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		9	16	9	16
OR10J3	441911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	159284385	159284385	+	Missense_Mutation	SNP	C	C	T	rs188688506	byFrequency	TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:159284385C>T	ENST00000332217.5	-	1	64	c.65G>A	c.(64-66)cGg>cAg	p.R22Q		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R22Q(1)|p.R22L(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTTGTGCTGCCGCCTGAAGCT	0.453													C|||	2	0.000399361	0.0	0.0	5008	,	,		22168	0.0		0.002	False		,,,				2504	0.0															2	Substitution - Missense(2)	ovary(1)|lung(1)						C	GLN/ARG	0,4406		0,0,2203	178.0	186.0	183.0		65	5.1	1.0	1		183	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR10J3	NM_001004467.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	22/330	159284385	1,13005	2203	4300	6503	SO:0001583	missense	441911				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.65G>A	1.37:g.159284385C>T	ENSP00000331789:p.Arg22Gln			Missense_Mutation	SNP	ENST00000332217.5	37	CCDS30909.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	4.379	0.069897	0.08436	0.0	1.16E-4	ENSG00000196266	ENST00000332217	T	0.02974	4.09	5.13	5.13	0.70059	.	0.000000	0.29609	U	0.011678	T	0.00440	0.0014	N	0.11364	0.135	0.25944	N	0.982837	P	0.51351	0.944	B	0.28916	0.096	T	0.46303	-0.9201	10	0.10636	T	0.68	.	9.4856	0.38928	0.0:0.9069:0.0:0.0931	.	22	Q5JRS4	O10J3_HUMAN	Q	22	ENSP00000331789:R22Q	ENSP00000331789:R22Q	R	-	2	0	OR10J3	157551009	0.524000	0.26282	0.969000	0.41365	0.020000	0.10135	1.293000	0.33353	2.653000	0.90120	0.561000	0.74099	CGG		0.453	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			110	179	110	179
LBP	3929	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	36983811	36983811	+	Splice_Site	SNP	T	T	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr20:36983811T>A	ENST00000217407.2	+	5	749		c.e5+2			NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein						acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GAGAGCAGGGTAAGAAGGTCC	0.572																																																0													76.0	60.0	65.0					20																	36983811		2202	4300	6502	SO:0001630	splice_region_variant	3929				CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.588+2T>A	20.37:g.36983811T>A			B2R938|O43438|Q92672|Q9H403|Q9UD66	Splice_Site	SNP	ENST00000217407.2	37	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.914749	0.33815	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0108	0.53286	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LBP	36417225	1.000000	0.71417	0.941000	0.38009	0.161000	0.22273	3.917000	0.56424	2.333000	0.79357	0.533000	0.62120	.		0.572	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139	Intron	8	39	8	39
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	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			36	48	36	48
SLC4A7	9497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	27444777	27444777	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:27444777A>G	ENST00000295736.5	-	15	2217	c.2147T>C	c.(2146-2148)gTg>gCg	p.V716A	SLC4A7_ENST00000435667.2_Missense_Mutation_p.V601A|SLC4A7_ENST00000437179.1_Missense_Mutation_p.V597A|SLC4A7_ENST00000388777.4_Missense_Mutation_p.V266A|SLC4A7_ENST00000445684.1_Missense_Mutation_p.V712A|SLC4A7_ENST00000428386.1_Missense_Mutation_p.V592A|SLC4A7_ENST00000440156.1_Missense_Mutation_p.V712A|SLC4A7_ENST00000454389.1_Missense_Mutation_p.V725A|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000455077.1_Missense_Mutation_p.V597A|SLC4A7_ENST00000446700.1_Missense_Mutation_p.V708A	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	716					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)	AATATAACACACAAGGCTGCT	0.378																																																0													105.0	105.0	105.0					3																	27444777		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.2147T>C	3.37:g.27444777A>G	ENSP00000295736:p.Val716Ala		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.012858	0.93346	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.14	5.14	0.70334	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93933	0.8058	M	0.92077	3.27	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.993;0.989;0.993;0.999;0.993;0.987;0.987;0.993;0.989	D;D;D;D;D;D;D;D;D	0.87578	0.959;0.957;0.94;0.998;0.959;0.934;0.928;0.959;0.957	D	0.95325	0.8424	10	0.87932	D	0	.	14.9553	0.71107	1.0:0.0:0.0:0.0	.	712;597;708;712;725;266;592;716;597	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	A	267;716;592;725;712;597;708;597;712;601;266;612	ENSP00000411031:V267A;ENSP00000295736:V716A;ENSP00000416368:V592A;ENSP00000390394:V725A;ENSP00000414797:V712A;ENSP00000394252:V597A;ENSP00000406605:V708A;ENSP00000407382:V597A;ENSP00000406804:V712A;ENSP00000395336:V601A;ENSP00000373429:V266A;ENSP00000388703:V612A	ENSP00000295736:V716A	V	-	2	0	SLC4A7	27419781	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	1.945000	0.56424	0.459000	0.35465	GTG		0.378	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		67	84	67	84
DNAH1	25981	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	52416412	52416412	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:52416412G>A	ENST00000420323.2	+	50	8143	c.7882G>A	c.(7882-7884)Gtc>Atc	p.V2628I		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2628	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTGAAGAAGGTCCTGCTCAA	0.582																																																0													170.0	180.0	177.0					3																	52416412		2135	4241	6376	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7882G>A	3.37:g.52416412G>A	ENSP00000401514:p.Val2628Ile		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	8.814	0.935929	0.18206	.	.	ENSG00000114841	ENST00000420323	T	0.38077	1.16	4.49	0.209	0.15226	.	0.660315	0.13141	N	0.410621	T	0.12433	0.0302	N	0.02658	-0.545	0.24786	N	0.992783	B	0.06786	0.001	B	0.15052	0.012	T	0.27640	-1.0068	10	0.23891	T	0.37	.	4.9995	0.14257	0.4316:0.1522:0.4163:0.0	.	2628	C9JXH6	.	I	2628	ENSP00000401514:V2628I	ENSP00000401514:V2628I	V	+	1	0	DNAH1	52391452	1.000000	0.71417	0.980000	0.43619	0.758000	0.43043	1.117000	0.31234	0.136000	0.18733	0.462000	0.41574	GTC		0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		92	129	92	129
KBTBD8	84541	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	67054104	67054104	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:67054104A>G	ENST00000417314.2	+	3	762	c.713A>G	c.(712-714)aAa>aGa	p.K238R	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000469661.1_3'UTR|KBTBD8_ENST00000295568.4_Missense_Mutation_p.K212R			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	238	BACK.					cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		ATTTTTGCTAAATGCATACGT	0.388																																																0													103.0	118.0	113.0					3																	67054104		2203	4300	6503	SO:0001583	missense	84541			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.713A>G	3.37:g.67054104A>G	ENSP00000401878:p.Lys238Arg		B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	A	14.98	2.696568	0.48202	.	.	ENSG00000163376	ENST00000295568;ENST00000484414;ENST00000417314	T;T;T	0.68903	-0.36;-0.36;-0.36	4.91	4.91	0.64330	BTB/Kelch-associated (2);	0.047432	0.85682	D	0.000000	T	0.56963	0.2021	L	0.35593	1.075	0.44562	D	0.99752	B	0.17268	0.021	B	0.17722	0.019	T	0.54616	-0.8267	10	0.42905	T	0.14	.	14.8177	0.70048	1.0:0.0:0.0:0.0	.	238	Q8NFY9	KBTB8_HUMAN	R	212;161;238	ENSP00000295568:K212R;ENSP00000417341:K161R;ENSP00000401878:K238R	ENSP00000295568:K212R	K	+	2	0	KBTBD8	67136794	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.464000	0.80887	1.952000	0.56665	0.405000	0.27470	AAA		0.388	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		23	54	23	54
ADCY2	108	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	7520914	7520914	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr5:7520914G>A	ENST00000338316.4	+	3	561	c.472G>A	c.(472-474)Gcc>Acc	p.A158T		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	158					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.A158T(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CATGCGAGACGCCATCATTGC	0.547																																																1	Substitution - Missense(1)	endometrium(1)											205.0	135.0	159.0					5																	7520914		2203	4300	6503	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.472G>A	5.37:g.7520914G>A	ENSP00000342952:p.Ala158Thr		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	36	5.723829	0.96847	.	.	ENSG00000078295	ENST00000338316;ENST00000541993	T	0.79352	-1.26	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.88437	0.6436	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.88793	0.3279	10	0.54805	T	0.06	.	16.8923	0.86090	0.0:0.0:1.0:0.0	.	158	Q08462	ADCY2_HUMAN	T	158;9	ENSP00000342952:A158T	ENSP00000342952:A158T	A	+	1	0	ADCY2	7573914	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	8.978000	0.93450	2.652000	0.90054	0.650000	0.86243	GCC		0.547	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		53	60	53	60
KCNB2	9312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	73849587	73849587	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr8:73849587C>T	ENST00000523207.1	+	3	2585	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	666					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AGGGATGGCACGCTGGAGTAT	0.562																																																0													54.0	54.0	54.0					8																	73849587		2203	4300	6503	SO:0001583	missense	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1997C>T	8.37:g.73849587C>T	ENSP00000430846:p.Thr666Met		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	T	0.081	-1.183592	0.01620	.	.	ENSG00000182674	ENST00000523207	T	0.25085	1.82	4.53	-0.951	0.10369	.	6.807010	0.01997	N	0.045941	T	0.23806	0.0576	L	0.48642	1.525	0.09310	N	1	P	0.40602	0.723	B	0.39660	0.306	T	0.12167	-1.0558	10	0.30078	T	0.28	.	5.3601	0.16083	0.1075:0.5522:0.2095:0.1308	.	666	Q92953	KCNB2_HUMAN	M	666	ENSP00000430846:T666M	ENSP00000430846:T666M	T	+	2	0	KCNB2	74012141	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	0.726000	0.25984	-0.703000	0.05049	-1.178000	0.01721	ACG		0.562	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		34	51	34	51
ALDH1B1	219	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	38396046	38396046	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr9:38396046C>T	ENST00000377698.3	+	2	454	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	101					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		TGCCTCTGAGCGGGGCCGGCT	0.647																																																0													68.0	77.0	74.0					9																	38396046		2203	4300	6503	SO:0001583	missense	219			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.301C>T	9.37:g.38396046C>T	ENSP00000366927:p.Arg101Trp		B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697582	0.68386	.	.	ENSG00000137124	ENST00000377698	D	0.88431	-2.38	5.61	4.63	0.57726	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.56097	D	0.000033	D	0.97253	0.9102	H	0.99877	4.88	0.46416	D	0.999034	D	0.89917	1.0	D	0.97110	1.0	D	0.98233	1.0484	10	0.87932	D	0	.	14.8272	0.70122	0.1537:0.8463:0.0:0.0	.	101	P30837	AL1B1_HUMAN	W	101	ENSP00000366927:R101W	ENSP00000366927:R101W	R	+	1	2	ALDH1B1	38386046	0.618000	0.27051	0.996000	0.52242	0.998000	0.95712	0.622000	0.24433	2.650000	0.89964	0.655000	0.94253	CGG		0.647	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			53	97	53	97
MROH2B	133558	broad.mit.edu;ucsc.edu	37	5	41012689	41012689	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr5:41012689T>C	ENST00000399564.4	-	30	3581	c.3131A>G	c.(3130-3132)gAt>gGt	p.D1044G	MROH2B_ENST00000506092.2_Missense_Mutation_p.D599G	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1044																	GTTCACCTGATCTTCCAGAGC	0.488																																																0													72.0	73.0	73.0					5																	41012689		1974	4175	6149	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3131A>G	5.37:g.41012689T>C	ENSP00000382476:p.Asp1044Gly		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.773247	0.31411	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.06142	3.34;3.34	6.04	4.89	0.63831	Armadillo-like helical (1);Armadillo-type fold (1);	0.625324	0.15862	N	0.240956	T	0.07324	0.0185	L	0.46157	1.445	0.31635	N	0.648568	B	0.10296	0.003	B	0.08055	0.003	T	0.01688	-1.1295	10	0.66056	D	0.02	.	8.1121	0.30920	0.0:0.0872:0.0:0.9128	.	1044	Q7Z745	HTRB2_HUMAN	G	599;749;1044	ENSP00000441504:D599G;ENSP00000382476:D1044G	ENSP00000296803:D749G	D	-	2	0	HEATR7B2	41048446	0.971000	0.33674	0.995000	0.50966	0.435000	0.31806	2.394000	0.44450	2.317000	0.78254	0.459000	0.35465	GAT		0.488	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		31	47	31	47
MYOCD	93649	broad.mit.edu;ucsc.edu	37	17	12666629	12666629	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:12666629G>A	ENST00000343344.4	+	13	2485	c.2485G>A	c.(2485-2487)Ggg>Agg	p.G829R	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Missense_Mutation_p.G877R			Q8IZQ8	MYCD_HUMAN	myocardin	829					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCTAAAAATTGGGAGCGAAGA	0.483																																																0													73.0	70.0	71.0					17																	12666629		2203	4300	6503	SO:0001583	missense	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2485G>A	17.37:g.12666629G>A	ENSP00000341835:p.Gly829Arg		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208400	0.58343	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.47177	0.85;0.86	6.08	6.08	0.98989	.	0.166924	0.52532	D	0.000066	T	0.68421	0.2999	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.976;0.989;0.976	T	0.67806	-0.5575	10	0.72032	D	0.01	-23.1767	19.4349	0.94788	0.0:0.0:1.0:0.0	.	553;877;829	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	R	553;877;829;539	ENSP00000341835:G829R;ENSP00000400148:G539R	ENSP00000341835:G829R	G	+	1	0	MYOCD	12607354	1.000000	0.71417	0.827000	0.32855	0.071000	0.16799	5.649000	0.67936	2.894000	0.99253	0.655000	0.94253	GGG		0.483	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		12	112	12	112
HNRNPC	3183	broad.mit.edu;hgsc.bcm.edu	37	14	21679388	21679414	+	In_Frame_Del	DEL	GTCATCCTCGCCATTGGCGCTGTCTCT	GTCATCCTCGCCATTGGCGCTGTCTCT	-	rs199651987|rs201612579|rs200803750		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr14:21679388_21679414delGTCATCCTCGCCATTGGCGCTGTCTCT	ENST00000320084.7	-	8	1128_1154	c.889_915delAGAGACAGCGCCAATGGCGAGGATGAC	c.(889-915)agagacagcgccaatggcgaggatgacdel	p.RDSANGEDD297del	HNRNPC_ENST00000449098.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000557201.1_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000553753.1_3'UTR|HNRNPC_ENST00000555883.1_In_Frame_Del_p.RDSANGEDD241del|HNRNPC_ENST00000430246.2_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000556142.1_3'UTR|HNRNPC_ENST00000556897.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000556513.1_3'UTR|HNRNPC_ENST00000554969.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000553300.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000555914.1_In_Frame_Del_p.RDSANGEDD283del|HNRNPC_ENST00000556628.1_In_Frame_Del_p.RDSANGEDD217del|HNRNPC_ENST00000554455.1_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000420743.2_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000336053.6_3'UTR|HNRNPC_ENST00000555309.1_In_Frame_Del_p.RDSANGEDD296del	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	297	Asp/Glu-rich (acidic).				3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		GTGCTTAAGAGTCATCCTCGCCATTGGCGCTGTCTCTGTCATCCTCT	0.445																																					NSCLC(108;607 2244 12726 38757)											0																																										SO:0001651	inframe_deletion	3183				CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.889_915delAGAGACAGCGCCAATGGCGAGGATGAC	14.37:g.21679388_21679414delGTCATCCTCGCCATTGGCGCTGTCTCT	ENSP00000319690:p.Arg297_Asp305del		D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	In_Frame_Del	DEL	ENST00000320084.7	37	CCDS41915.1																																																																																				0.445	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1			63	254	63	254
CDC34	997	broad.mit.edu;hgsc.bcm.edu	37	19	537058	537060	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr19:537058_537060delCTT	ENST00000215574.4	+	4	626_628	c.408_410delCTT	c.(406-411)accttc>acc	p.F137del		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	137					cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCCAACACCTTCTCGCCCGCA	0.635																																																0																																										SO:0001651	inframe_deletion	997			L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"""Ubiquitin-conjugating enzymes E2"""	1734	protein-coding gene	gene with protein product		116948	"""cell division cycle 34"", ""cell division cycle 34 homolog (S. cerevisiae)"""			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.408_410delCTT	19.37:g.537058_537060delCTT	ENSP00000215574:p.Phe137del		A8K689	In_Frame_Del	DEL	ENST00000215574.4	37	CCDS12030.1																																																																																				0.635	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	NM_004359		42	72	42	72
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76778848	76778849	+	Frame_Shift_Ins	INS	-	-	GTATC			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chrX:76778848_76778849insGTATC	ENST00000373344.5	-	31	6944_6945	c.6730_6731insGATAC	c.(6730-6732)catfs	p.H2244fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.H2206fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2244	Interaction with MECP2.				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)			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						GTGTTCTTTATGTATCTGAAGG	0.386			"""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	0																																										SO:0001589	frameshift_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.6726_6730dupGATAC	X.37:g.76778849_76778853dupGTATC	ENSP00000362441:p.His2244fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	CCDS14434.1																																																																																				0.386	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		48	53	48	53
