#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_Chromosome_hg18	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_End_position_hg18	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	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_type
BLK	640	hgsc.bcm.edu	37	8	11415521	11415521	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1627-01	TCGA-25-1627-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr8:11415521C>T	ENST00000259089.4	+	10	1595	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	RP11-148O21.4_ENST00000528629.1_RNA|BLK_ENST00000529894.1_Missense_Mutation_p.P264S|RP11-148O21.2_ENST00000533322.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	335	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.P335S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		ATTGTCACTCCCAAGGCTGAT	0.552																																																1	Substitution - Missense(1)	ovary(1)	8											145.0	111.0	122.0					8																	11415521		2203	4300	6503	11452930	SO:0001583	missense	640			BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.1003C>T	8.37:g.11415521C>T	ENSP00000259089:p.Pro335Ser	Somatic		Capture	SOLID	Phase_III	11452930	Q16291|Q96IN1	Missense_Mutation	SNP	ENST00000259089.4	37	CCDS5982.1	SNP	22	Baylor	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551549	0.27739	.	.	ENSG00000136573	ENST00000259089;ENST00000427279;ENST00000529894	D;D	0.81659	-1.52;-1.52	4.83	0.942	0.19525	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.592946	0.13770	N	0.363943	T	0.65749	0.2721	N	0.20685	0.6	0.26227	N	0.979078	B	0.06786	0.001	B	0.09377	0.004	T	0.57201	-0.7852	10	0.62326	D	0.03	.	8.6891	0.34256	0.0:0.5989:0.0:0.4011	.	335	P51451	BLK_HUMAN	S	335;335;264	ENSP00000259089:P335S;ENSP00000433663:P264S	ENSP00000259089:P335S	P	+	1	0	BLK	11452930	0.000000	0.05858	0.602000	0.28890	0.550000	0.35303	0.181000	0.16880	0.207000	0.20607	0.485000	0.47835	CCA		0.552	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			Missense_Mutation
BMP1	649	hgsc.bcm.edu	37	8	22064409	22064409	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1627-01	TCGA-25-1627-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr8:22064409C>T	ENST00000306385.5	+	17	2946	c.2276C>T	c.(2275-2277)aCc>aTc	p.T759I	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	759	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.T759I(1)|p.T759N(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGTACCATCACCAGCCCCAAC	0.632																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	8											104.0	78.0	87.0					8																	22064409		2203	4300	6503	22120354	SO:0001583	missense	649				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2276C>T	8.37:g.22064409C>T	ENSP00000305714:p.Thr759Ile	Somatic		Capture	SOLID	Phase_III	22120354	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	CCDS6026.1	SNP	18	Baylor	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462201	0.43736	.	.	ENSG00000168487	ENST00000306385	T	0.19394	2.15	4.19	4.19	0.49359	CUB (5);	0.000000	0.39687	U	0.001296	T	0.31670	0.0804	M	0.81179	2.53	0.80722	D	1	B	0.32893	0.389	B	0.38921	0.285	T	0.13522	-1.0506	10	0.23302	T	0.38	.	15.4614	0.75359	0.0:1.0:0.0:0.0	.	759	P13497	BMP1_HUMAN	I	759	ENSP00000305714:T759I	ENSP00000305714:T759I	T	+	2	0	BMP1	22120354	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.249000	0.32839	2.156000	0.67533	0.462000	0.41574	ACC		0.632	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		Missense_Mutation
CD274	29126	hgsc.bcm.edu	37	9	5462907	5462907	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1627-01	TCGA-25-1627-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr9:5462907G>T	ENST00000381577.3	+	4	554	c.468G>T	c.(466-468)caG>caT	p.Q156H	CD274_ENST00000381573.4_Missense_Mutation_p.Q42H|CD274_ENST00000498261.1_3'UTR	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	156	Ig-like C2-type.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q156H(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		TGACATGTCAGGCTGAGGGCT	0.478			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																		Dom	yes		9	9p24	29126	CD274 molecule		L	1	Substitution - Missense(1)	ovary(1)	9											99.0	81.0	87.0					9																	5462907		2203	4300	6503	5452907	SO:0001583	missense	29126			AF177937	CCDS6464.1, CCDS59118.1	9p24.1	2014-01-30	2006-03-28	2005-02-25	ENSG00000120217	ENSG00000120217		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17635	protein-coding gene	gene with protein product	"""B7 homolog 1"""	605402	"""programmed cell death 1 ligand 1"", ""CD274 antigen"""	PDCD1LG1		11015443, 10581077	Standard	NM_014143		Approved	B7-H, B7H1, PD-L1, PDL1, B7-H1	uc003zje.3	Q9NZQ7	OTTHUMG00000019503	ENST00000381577.3:c.468G>T	9.37:g.5462907G>T	ENSP00000370989:p.Gln156His	Somatic		Capture	SOLID	Phase_III	5452907	B2RBA2|B4DU27|Q14CJ2|Q2V8D5|Q66RK1|Q6WEX4|Q9NUZ5	Missense_Mutation	SNP	ENST00000381577.3	37	CCDS6464.1	SNP	35	Baylor	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326827	0.60743	.	.	ENSG00000120217	ENST00000381573;ENST00000381577	T;T	0.75589	-0.95;-0.95	5.86	3.06	0.35304	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.158905	0.44483	D	0.000452	D	0.85128	0.5626	M	0.86178	2.8	0.36371	D	0.861296	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.996	D	0.86711	0.1936	10	0.87932	D	0	-38.4685	8.701	0.34325	0.2355:0.0:0.7645:0.0	.	156;42;156	Q9NZQ7-3;Q2V8D5;Q9NZQ7	.;.;PD1L1_HUMAN	H	42;156	ENSP00000370985:Q42H;ENSP00000370989:Q156H	ENSP00000370985:Q42H	Q	+	3	2	CD274	5452907	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	0.784000	0.26816	0.407000	0.25591	-0.140000	0.14226	CAG		0.478	CD274-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051631.2	NM_014143		Missense_Mutation
CNTNAP2	26047	hgsc.bcm.edu	37	7	148112574	148112574	+	Missense_Mutation	SNP	C	C	T	rs138661307		TCGA-25-1627-01	TCGA-25-1627-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr7:148112574C>T	ENST00000361727.3	+	24	4378	c.3862C>T	c.(3862-3864)Cgc>Tgc	p.R1288C	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.R347C|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1288					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R1288S(1)|p.R1288C(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTACATGTTCCGCCACAAGGG	0.567										HNSCC(39;0.1)																																						2	Substitution - Missense(2)	ovary(1)|lung(1)	7						C	CYS/ARG	0,4406		0,0,2203	85.0	71.0	76.0		3862	5.4	1.0	7	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CNTNAP2	NM_014141.5	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1288/1332	148112574	1,13005	2203	4300	6503	147743507	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3862C>T	7.37:g.148112574C>T	ENSP00000354778:p.Arg1288Cys	Somatic		Capture	SOLID	Phase_III	147743507	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	SNP	23	Baylor	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020129	0.93462	0.0	1.16E-4	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.44482	0.92;0.92	5.42	5.42	0.78866	Neurexin/syndecan/glycophorin C (1);	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.73011	-0.4117	10	0.87932	D	0	.	17.8137	0.88624	0.0:1.0:0.0:0.0	.	1288	Q9UHC6	CNTP2_HUMAN	C	1288;347	ENSP00000354778:R1288C;ENSP00000440732:R347C	ENSP00000354778:R1288C	R	+	1	0	CNTNAP2	147743507	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.686000	0.84128	2.534000	0.85438	0.655000	0.94253	CGC		0.567	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			Missense_Mutation
COL22A1	169044	hgsc.bcm.edu	37	8	139635998	139635998	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1627-01	TCGA-25-1627-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr8:139635998T>C	ENST00000303045.6	-	52	4194	c.3748A>G	c.(3748-3750)Aag>Gag	p.K1250E	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.K1230E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1250	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.K1250E(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGACCCGGCTTTCCATCTCTG	0.448										HNSCC(7;0.00092)																																						1	Substitution - Missense(1)	ovary(1)	8											185.0	197.0	193.0					8																	139635998		2203	4300	6503	139705180	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3748A>G	8.37:g.139635998T>C	ENSP00000303153:p.Lys1250Glu	Somatic		Capture	SOLID	Phase_III	139705180	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	SNP	64	Baylor	.	.	.	.	.	.	.	.	.	.	T	13.27	2.187372	0.38609	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93366	-3.21;-3.21	4.43	4.43	0.53597	.	0.000000	0.51477	U	0.000093	D	0.89522	0.6739	N	0.10760	0.04	0.34123	D	0.66432	D;D	0.69078	0.996;0.997	D;D	0.79108	0.987;0.992	D	0.85580	0.1239	10	0.02654	T	1	.	10.373	0.44066	0.0:0.0:0.0:1.0	.	1230;1250	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	E	1250;1230;943	ENSP00000303153:K1250E;ENSP00000387655:K1230E	ENSP00000303153:K1250E	K	-	1	0	COL22A1	139705180	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.660000	0.54496	2.217000	0.71921	0.482000	0.46254	AAG		0.448	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		Missense_Mutation
DDB1	1642	hgsc.bcm.edu	37	11	61081669	61081669	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1627-01	TCGA-25-1627-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr11:61081669C>G	ENST00000301764.7	-	14	2000	c.1603G>C	c.(1603-1605)Gaa>Caa	p.E535Q	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'Flank	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	535	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.E535Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ACTTCATGTTCCATCTCTGTG	0.493								Nucleotide excision repair (NER)																																								1	Substitution - Missense(1)	ovary(1)	11											65.0	71.0	69.0					11																	61081669		2203	4299	6502	60838245	SO:0001583	missense	1642			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1603G>C	11.37:g.61081669C>G	ENSP00000301764:p.Glu535Gln	Somatic		Capture	SOLID	Phase_III	60838245	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	CCDS31576.1	SNP	30	Baylor	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246823	0.59103	.	.	ENSG00000167986	ENST00000301764;ENST00000535147;ENST00000537877;ENST00000535967;ENST00000539739	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.39911	0.1096	L	0.43152	1.355	0.80722	D	1	B	0.12013	0.005	B	0.16722	0.016	T	0.13602	-1.0503	10	0.21540	T	0.41	-16.2985	20.1379	0.98040	0.0:1.0:0.0:0.0	.	535	Q16531	DDB1_HUMAN	Q	535;2;99;186;254	ENSP00000301764:E535Q;ENSP00000442732:E99Q;ENSP00000437713:E186Q;ENSP00000445563:E254Q	ENSP00000301764:E535Q	E	-	1	0	DDB1	60838245	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.370000	0.79589	2.779000	0.95612	0.655000	0.94253	GAA		0.493	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		Missense_Mutation
DMD	1756	hgsc.bcm.edu	37	X	31497167	31497167	+	Silent	SNP	C	C	T			TCGA-25-1627-01	TCGA-25-1627-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chrX:31497167C>T	ENST00000357033.4	-	58	8807	c.8601G>A	c.(8599-8601)gaG>gaA	p.E2867E	DMD_ENST00000378707.3_Silent_p.E407E|DMD_ENST00000378677.2_Silent_p.E2863E|DMD_ENST00000359836.1_Silent_p.E407E|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000343523.2_Silent_p.E407E|DMD_ENST00000541735.1_Silent_p.E407E|DMD_ENST00000474231.1_Silent_p.E407E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2867					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E407E(1)|p.E2862E(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCGTACAGTCTCAAGAGTAC	0.393																																																2	Substitution - coding silent(2)	ovary(2)	X											103.0	91.0	95.0					X																	31497167		2202	4300	6502	31407088	SO:0001819	synonymous_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8601G>A	X.37:g.31497167C>T		Somatic		Capture	SOLID	Phase_III	31407088	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1	SNP	32	Baylor	.	.	.	.	.	.	.	.	.	.	C	6.273	0.418466	0.11870	.	.	ENSG00000198947	ENST00000465285	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	T	0.57799	0.2078	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56798	-0.7919	4	.	.	.	.	7.5569	0.27829	0.1654:0.7491:0.0:0.0855	.	.	.	.	N	596	.	.	D	-	1	0	DMD	31407088	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.614000	0.24314	2.257000	0.74773	0.600000	0.82982	GAC		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		Silent
DNAH5	1767	hgsc.bcm.edu	37	5	13830837	13830837	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1627-01	TCGA-25-1627-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr5:13830837G>T	ENST00000265104.4	-	36	6034	c.5930C>A	c.(5929-5931)gCc>gAc	p.A1977D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1977	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A1977D(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCAGCAGGGGCTCCCCCCAT	0.512									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	5											117.0	114.0	115.0					5																	13830837		2203	4300	6503	13883837	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5930C>A	5.37:g.13830837G>T	ENSP00000265104:p.Ala1977Asp	Somatic		Capture	SOLID	Phase_III	13883837	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	SNP	42	Baylor	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756910	0.89843	.	.	ENSG00000039139	ENST00000265104	T	0.14516	2.5	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.55970	0.1954	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.73183	-0.4063	10	0.87932	D	0	.	19.4895	0.95044	0.0:0.0:1.0:0.0	.	1977	Q8TE73	DYH5_HUMAN	D	1977	ENSP00000265104:A1977D	ENSP00000265104:A1977D	A	-	2	0	DNAH5	13883837	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.869000	0.99810	2.596000	0.87737	0.655000	0.94253	GCC		0.512	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		Missense_Mutation
EWSR1	2130	hgsc.bcm.edu	37	22	29683064	29683064	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1627-01	TCGA-25-1627-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr22:29683064G>T	ENST00000397938.2	+	7	1053	c.734G>T	c.(733-735)gGa>gTa	p.G245V	EWSR1_ENST00000333395.6_Missense_Mutation_p.G245V|EWSR1_ENST00000332050.6_Missense_Mutation_p.G245V|EWSR1_ENST00000406548.1_Missense_Mutation_p.G245V|EWSR1_ENST00000331029.7_Missense_Mutation_p.G245V|EWSR1_ENST00000332035.6_Missense_Mutation_p.G189V|EWSR1_ENST00000414183.2_Missense_Mutation_p.G251V	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	245	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G245V(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCCAAACTGGATCCTACAGC	0.498			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																		Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"""L, M"""	1	Substitution - Missense(1)	ovary(1)	22											71.0	64.0	66.0					22																	29683064		2203	4300	6503	28013064	SO:0001583	missense	2130				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.734G>T	22.37:g.29683064G>T	ENSP00000381031:p.Gly245Val	Somatic		Capture	SOLID	Phase_III	28013064	B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	CCDS13851.1	SNP	41	Baylor	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235920	0.58886	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000437155;ENST00000415761;ENST00000331029;ENST00000414183;ENST00000333395;ENST00000455726;ENST00000332035	T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.7	5.7	0.88788	.	0.167625	0.37761	U	0.001952	T	0.32041	0.0816	L	0.55990	1.75	0.53688	D	0.999979	B;B;B;B;B;B	0.28082	0.2;0.2;0.2;0.2;0.2;0.172	B;B;B;B;B;B	0.25759	0.037;0.061;0.061;0.061;0.061;0.063	T	0.07139	-1.0788	10	0.59425	D	0.04	.	15.3317	0.74219	0.0:0.1392:0.8608:0.0	.	189;245;189;251;245;245	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844;Q9BWA2	.;.;.;.;EWS_HUMAN;.	V	245;245;245;246;170;245;251;245;189;189	ENSP00000330896:G245V;ENSP00000381031:G245V;ENSP00000385726:G245V;ENSP00000412670:G246V;ENSP00000330516:G245V;ENSP00000400142:G251V;ENSP00000327456:G245V;ENSP00000393637:G189V;ENSP00000331699:G189V	ENSP00000330516:G245V	G	+	2	0	EWSR1	28013064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.361000	0.66092	2.687000	0.91594	0.655000	0.94253	GGA		0.498	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		Missense_Mutation
BRINP2	57795	hgsc.bcm.edu	37	1	177242709	177242709	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1627-01	TCGA-25-1627-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr1:177242709A>G	ENST00000361539.4	+	5	1067	c.755A>G	c.(754-756)gAg>gGg	p.E252G	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	252	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.E252G(1)									CAGAGTCCAGAGAACAAAGTA	0.433																																																1	Substitution - Missense(1)	ovary(1)	1											77.0	69.0	72.0					1																	177242709		2203	4300	6503	175509332	SO:0001583	missense	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.755A>G	1.37:g.177242709A>G	ENSP00000354481:p.Glu252Gly	Somatic		Capture	SOLID	Phase_III	175509332	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	SNP	11	Baylor	.	.	.	.	.	.	.	.	.	.	A	27.4	4.831038	0.91036	.	.	ENSG00000198797	ENST00000361539	T	0.19669	2.13	5.39	5.39	0.77823	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	M	0.73217	2.22	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.78314	0.928;0.991	T	0.47368	-0.9123	10	0.72032	D	0.01	-23.1075	15.1035	0.72303	1.0:0.0:0.0:0.0	.	147;252	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	G	252	ENSP00000354481:E252G	ENSP00000354481:E252G	E	+	2	0	FAM5B	175509332	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.210000	0.95106	2.054000	0.61138	0.533000	0.62120	GAG		0.433	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		Missense_Mutation
HLX	3142	hgsc.bcm.edu	37	1	221057775	221057775	+	Missense_Mutation	SNP	G	G	A	rs371016648		TCGA-25-1627-01	TCGA-25-1627-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr1:221057775G>A	ENST00000366903.6	+	4	2697	c.1196G>A	c.(1195-1197)cGt>cAt	p.R399H	HLX_ENST00000549319.1_Missense_Mutation_p.R185H	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	399	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R399H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GGGAGTGAGCGTTCTCTGCAC	0.652																																																1	Substitution - Missense(1)	ovary(1)	1						G	HIS/ARG	0,4406		0,0,2203	67.0	57.0	60.0		1196	0.5	0.1	1		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	HLX	NM_021958.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	399/489	221057775	1,13005	2203	4300	6503	219124398	SO:0001583	missense	3142			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1196G>A	1.37:g.221057775G>A	ENSP00000355870:p.Arg399His	Somatic		Capture	SOLID	Phase_III	219124398	B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	CCDS1527.1	SNP	40	Baylor	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003013	0.74932	0.0	1.16E-4	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	D;T;T	0.89939	-2.59;0.63;3.02	5.03	0.525	0.17072	.	0.275088	0.25747	N	0.028580	T	0.68613	0.3020	N	0.12182	0.205	0.22017	N	0.999418	P	0.49783	0.928	B	0.35312	0.2	T	0.66897	-0.5807	10	0.49607	T	0.09	-11.6882	1.2885	0.02055	0.1386:0.1777:0.3196:0.3641	.	399	Q14774	HLX_HUMAN	H	399;132;185	ENSP00000355870:R399H;ENSP00000408248:R132H;ENSP00000449882:R185H	ENSP00000355870:R399H	R	+	2	0	HLX	219124398	0.076000	0.21285	0.113000	0.21522	0.884000	0.51177	0.854000	0.27791	0.567000	0.29293	0.561000	0.74099	CGT		0.652	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		Missense_Mutation
IDE	3416	hgsc.bcm.edu	37	10	94269887	94269887	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1627-01	TCGA-25-1627-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr10:94269887T>G	ENST00000265986.6	-	6	873	c.817A>C	c.(817-819)Aag>Cag	p.K273Q		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	273					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.K273Q(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	GAAAATAACTTTACCACCAGA	0.343																																																2	Substitution - Missense(2)	urinary_tract(1)|ovary(1)	10											106.0	109.0	108.0					10																	94269887		2203	4300	6503	94259867	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.817A>C	10.37:g.94269887T>G	ENSP00000265986:p.Lys273Gln	Somatic		Capture	SOLID	Phase_III	94259867	B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	CCDS7421.1	SNP	64	Baylor	.	.	.	.	.	.	.	.	.	.	T	15.28	2.788132	0.49997	.	.	ENSG00000119912	ENST00000265986	T	0.10573	2.86	5.6	5.6	0.85130	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.107665	0.64402	D	0.000008	T	0.08492	0.0211	N	0.20401	0.57	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22452	-1.0216	10	0.34782	T	0.22	-11.5872	14.029	0.64604	0.0:0.0:0.0:1.0	.	273	P14735	IDE_HUMAN	Q	273	ENSP00000265986:K273Q	ENSP00000265986:K273Q	K	-	1	0	IDE	94259867	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.291000	0.72719	2.143000	0.66587	0.460000	0.39030	AAG		0.343	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		Missense_Mutation
KAT2B	8850	hgsc.bcm.edu	37	3	20136781	20136781	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1627-01	TCGA-25-1627-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr3:20136781G>A	ENST00000263754.4	+	3	912	c.457G>A	c.(457-459)Gtg>Atg	p.V153M	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	153					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.V153M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CCTGGAGAATGTGTCAGAGGA	0.398																																																1	Substitution - Missense(1)	ovary(1)	3											99.0	98.0	98.0					3																	20136781		2203	4300	6503	20111785	SO:0001583	missense	8850			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.457G>A	3.37:g.20136781G>A	ENSP00000263754:p.Val153Met	Somatic		Capture	SOLID	Phase_III	20111785	Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	CCDS2634.1	SNP	48	Baylor	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944582	0.73672	.	.	ENSG00000114166	ENST00000263754	T	0.22336	1.96	5.6	4.72	0.59763	PCAF, N-terminal (1);	0.259745	0.38005	N	0.001860	T	0.39489	0.1080	M	0.64997	1.995	0.48901	D	0.999726	P	0.44816	0.844	P	0.54590	0.756	T	0.22347	-1.0219	10	0.56958	D	0.05	-7.739	16.4906	0.84200	0.0:0.1312:0.8688:0.0	.	153	Q92831	KAT2B_HUMAN	M	153	ENSP00000263754:V153M	ENSP00000263754:V153M	V	+	1	0	KAT2B	20111785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.670000	0.61583	1.335000	0.45486	0.555000	0.69702	GTG		0.398	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		Missense_Mutation
MAN2B1	4125	hgsc.bcm.edu	37	19	12775781	12775781	+	Missense_Mutation	SNP	T	T	C	rs200164758	byFrequency	TCGA-25-1627-01	TCGA-25-1627-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr19:12775781T>C	ENST00000456935.2	-	4	495	c.455A>G	c.(454-456)aAt>aGt	p.N152S	MAN2B1_ENST00000221363.4_Missense_Mutation_p.N152S|WDR83_ENST00000418543.3_5'Flank|CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.N149S	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	152					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.N152S(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCAGCCACCATTGGCGAACTC	0.592													T|||	2	0.000399361	0.0015	0.0	5008	,	,		18970	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	19						T	SER/ASN,SER/ASN	6,4400	11.4+/-27.6	0,6,2197	66.0	50.0	55.0		455,455	5.7	1.0	19		55	1,8599		0,1,4299	yes	missense,missense	MAN2B1	NM_000528.3,NM_001173498.1	46,46	0,7,6496	CC,CT,TT		0.0116,0.1362,0.0538	benign,benign	152/1012,152/1011	12775781	7,12999	2203	4300	6503	12636781	SO:0001583	missense	4125				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.455A>G	19.37:g.12775781T>C	ENSP00000395473:p.Asn152Ser	Somatic		Capture	SOLID	Phase_III	12636781	G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	CCDS32919.1	SNP	52	Baylor	.	.	.	.	.	.	.	.	.	.	T	20.7	4.039884	0.75732	0.001362	1.16E-4	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.78924	-1.22;-1.22	5.69	5.69	0.88448	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.51477	D	0.000100	D	0.86785	0.6016	M	0.73598	2.24	0.58432	D	0.999997	D;D	0.89917	0.997;1.0	D;D	0.79784	0.931;0.993	D	0.86473	0.1786	10	0.40728	T	0.16	-52.9882	13.8998	0.63797	0.0:0.0:0.0:1.0	.	152;152	G5E928;O00754	.;MA2B1_HUMAN	S	152;91;152	ENSP00000395473:N152S;ENSP00000221363:N152S	ENSP00000221363:N152S	N	-	2	0	MAN2B1	12636781	1.000000	0.71417	0.991000	0.47740	0.790000	0.44656	4.722000	0.61958	2.171000	0.68590	0.402000	0.26972	AAT		0.592	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			Missense_Mutation
MURC	347273	hgsc.bcm.edu	37	9	103348538	103348538	+	Missense_Mutation	SNP	C	C	G	rs145774333		TCGA-25-1627-01	TCGA-25-1627-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr9:103348538C>G	ENST00000307584.5	+	2	965	c.900C>G	c.(898-900)agC>agG	p.S300R		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	300					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)		p.S300R(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TTGCCAGGAGCGAGTCTCTGG	0.552																																																1	Substitution - Missense(1)	ovary(1)	9											96.0	99.0	98.0					9																	103348538		2203	4300	6503	102388359	SO:0001583	missense	347273			BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.900C>G	9.37:g.103348538C>G	ENSP00000418668:p.Ser300Arg	Somatic		Capture	SOLID	Phase_III	102388359	B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	CCDS35083.1	SNP	27	Baylor	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680863	0.29872	.	.	ENSG00000170681	ENST00000307584	T	0.66099	-0.19	4.61	-3.44	0.04796	.	0.564990	0.18618	N	0.135971	T	0.38108	0.1028	N	0.24115	0.695	0.09310	N	1	P	0.46457	0.878	B	0.42995	0.404	T	0.48468	-0.9033	10	0.17369	T	0.5	-5.0813	5.5372	0.17018	0.15:0.2602:0.0:0.5898	.	300	Q5BKX8	MURC_HUMAN	R	300	ENSP00000418668:S300R	ENSP00000418668:S300R	S	+	3	2	MURC	102388359	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.515000	0.02252	-0.617000	0.05664	-1.090000	0.02178	AGC		0.552	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		Missense_Mutation
OFCC1	266553	hgsc.bcm.edu	37	6	9900599	9900600	+	In_Frame_Ins	INS	-	-	GAG	rs144488533|rs59046538|rs397956158	byFrequency	TCGA-25-1627-01	TCGA-25-1628-10A-01W-0615-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1628-10A-01W-0615-10	g.chr6:9900599_9900600insGAG	ENST00000316020.6	-	6	669_670	c.670_671insCTC	c.(670-672)cag>cCTCag	p.223_224insP	OFCC1_ENST00000472329.1_5'UTR			Q8IZS5	OFCC1_HUMAN	orofacial cleft 1 candidate 1	178								p.S178_Q179insP(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				TATAGTTTTCTGAGATCTTTGG	0.396														1279	0.255391	0.385	0.1671	5008	,	,		19582	0.3224		0.163	False		,,,				2504	0.1687															1	Insertion - In frame(1)	ovary(1)	6								1472,2792		265,942,925						-1.0	0.0		dbSNP_132	113	1439,6815		146,1147,2834	no	coding	OFCC1	XM_003118558.1		411,2089,3759	A1A1,A1R,RR		17.434,34.5216,23.2545				2911,9607				10008586	SO:0001652	inframe_insertion	266553			AF548113		6p24.3	2010-11-23			ENSG00000181355	ENSG00000181355			21017	protein-coding gene	gene with protein product		614287					Standard	XM_003119969		Approved	MRDS1	uc003myh.1	Q8IZS5	OTTHUMG00000159104	ENST00000316020.6:c.668_670dupCTC	6.37:g.9900600_9900602dupGAG	ENSP00000325053:p.Ser223_Gln224insPro	Somatic		Capture	SOLID	Phase_III	10008585	Q7Z2X5|Q8IUL6|Q8IUM1|Q8IZR9|Q8IZS1|Q8IZS3	In_Frame_Ins	INS	ENST00000316020.6	37		INS	55	Baylor																																																																																				0.396	OFCC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_153003		In_Frame_Ins
PCSK7	9159	hgsc.bcm.edu	37	11	117078702	117078702	+	Silent	SNP	A	A	C	rs200068220		TCGA-25-1627-01	TCGA-25-1627-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr11:117078702A>C	ENST00000320934.3	-	14	2400	c.1770T>G	c.(1768-1770)ctT>ctG	p.L590L	PCSK7_ENST00000540028.1_Silent_p.L231L|PCSK7_ENST00000529458.1_5'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	590					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.L590L(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CCCTGATGACAAGCCTGTAGG	0.567			T	IGH@	MLCLS																																		Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	1	Substitution - coding silent(1)	ovary(1)	11											2.0	2.0	2.0					11																	117078702		1345	2817	4162	116583912	SO:0001819	synonymous_variant	9159			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1770T>G	11.37:g.117078702A>C		Somatic		Capture	SOLID	Phase_III	116583912	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	37	CCDS8382.1	SNP	5	Baylor																																																																																				0.567	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		Silent
PDE1A	5136	hgsc.bcm.edu	37	2	183387022	183387022	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1627-01	TCGA-25-1627-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr2:183387022A>G	ENST00000410103.1	-	2	165	c.82T>C	c.(82-84)Tgg>Cgg	p.W28R	PDE1A_ENST00000358139.2_Missense_Mutation_p.W28R|PDE1A_ENST00000456212.1_Missense_Mutation_p.W28R|PDE1A_ENST00000331935.6_Missense_Mutation_p.W28R|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000435564.1_Missense_Mutation_p.W28R	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	28	Calmodulin-binding. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.W28R(1)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AGGCGCTGCCACATTTTTTCA	0.408																																																1	Substitution - Missense(1)	ovary(1)	2											140.0	140.0	140.0					2																	183387022		2202	4300	6502	183095267	SO:0001583	missense	5136				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.82T>C	2.37:g.183387022A>G	ENSP00000387037:p.Trp28Arg	Somatic		Capture	SOLID	Phase_III	183095267	D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	CCDS33344.1	SNP	6	Baylor	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808149	0.50421	.	.	ENSG00000115252	ENST00000435564;ENST00000331935;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T	0.70282	-0.46;-0.46;-0.46;-0.46;-0.47	5.73	4.58	0.56647	.	0.200392	0.32753	N	0.005688	T	0.66247	0.2770	L	0.36672	1.1	0.34741	D	0.730795	B;P	0.36048	0.429;0.534	B;P	0.46629	0.323;0.522	T	0.71533	-0.4564	10	0.40728	T	0.16	.	6.9365	0.24468	0.7743:0.15:0.0758:0.0	.	28;28	P54750;P54750-4	PDE1A_HUMAN;.	R	28	ENSP00000410309:W28R;ENSP00000331574:W28R;ENSP00000387037:W28R;ENSP00000350858:W28R;ENSP00000408874:W28R	ENSP00000331574:W28R	W	-	1	0	PDE1A	183095267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.527000	0.60573	1.010000	0.39314	0.482000	0.46254	TGG		0.408	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			Missense_Mutation
PDE3A	5139	hgsc.bcm.edu	37	12	20787946	20787946	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1627-01	TCGA-25-1627-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr12:20787946G>C	ENST00000359062.3	+	8	1997	c.1957G>C	c.(1957-1959)Gca>Cca	p.A653P	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	653					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.A653P(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TCTGAGGAAAGCATCGGCTTG	0.433																																																1	Substitution - Missense(1)	ovary(1)	12											136.0	114.0	122.0					12																	20787946		2203	4300	6503	20679213	SO:0001583	missense	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1957G>C	12.37:g.20787946G>C	ENSP00000351957:p.Ala653Pro	Somatic		Capture	SOLID	Phase_III	20679213	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	SNP	34	Baylor	.	.	.	.	.	.	.	.	.	.	G	5.890	0.348255	0.11126	.	.	ENSG00000172572	ENST00000359062	T	0.62498	0.02	5.64	1.85	0.25348	.	4.290180	0.00166	N	0.000010	T	0.50514	0.1620	N	0.22421	0.69	0.09310	N	1	B	0.28208	0.203	B	0.24394	0.053	T	0.35773	-0.9775	10	0.28530	T	0.3	.	10.2774	0.43519	0.2598:0.0:0.7402:0.0	.	653	Q14432	PDE3A_HUMAN	P	653	ENSP00000351957:A653P	ENSP00000351957:A653P	A	+	1	0	PDE3A	20679213	0.978000	0.34361	0.015000	0.15790	0.138000	0.21146	1.886000	0.39688	0.080000	0.16959	-0.142000	0.14014	GCA		0.433	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			Missense_Mutation
PIK3R4	30849	hgsc.bcm.edu	37	3	130463426	130463426	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1627-01	TCGA-25-1627-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr3:130463426C>G	ENST00000356763.3	-	2	1194	c.637G>C	c.(637-639)Gaa>Caa	p.E213Q		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E213Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CTCATATATTCTAACTCAGTG	0.413																																																1	Substitution - Missense(1)	ovary(1)	3											88.0	86.0	87.0					3																	130463426		2203	4300	6503	131946116	SO:0001583	missense	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.637G>C	3.37:g.130463426C>G	ENSP00000349205:p.Glu213Gln	Somatic		Capture	SOLID	Phase_III	131946116	Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	SNP	32	Baylor	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016423	0.54468	.	.	ENSG00000196455	ENST00000356763	T	0.06218	3.33	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.079955	0.53938	D	0.000059	T	0.07593	0.0191	L	0.37507	1.11	0.80722	D	1	B	0.30634	0.288	B	0.28991	0.097	T	0.40459	-0.9562	10	0.22706	T	0.39	-11.8136	19.2554	0.93944	0.0:1.0:0.0:0.0	.	213	Q99570	PI3R4_HUMAN	Q	213	ENSP00000349205:E213Q	ENSP00000349205:E213Q	E	-	1	0	PIK3R4	131946116	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	5.682000	0.68182	2.625000	0.88918	0.462000	0.41574	GAA		0.413	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		Missense_Mutation
PLCH1	23007	hgsc.bcm.edu	37	3	155232642	155232642	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1627-01	TCGA-25-1627-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr3:155232642G>T	ENST00000340059.7	-	11	1465	c.1466C>A	c.(1465-1467)tCt>tAt	p.S489Y	PLCH1_ENST00000447496.2_Missense_Mutation_p.S489Y|PLCH1_ENST00000334686.6_Missense_Mutation_p.S471Y|PLCH1_ENST00000494598.1_Missense_Mutation_p.S489Y|PLCH1_ENST00000460012.1_Missense_Mutation_p.S471Y|PLCH1_ENST00000414191.1_Missense_Mutation_p.S471Y	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	489					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.S471Y(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCTTATGAAAGATTCCACCTG	0.388																																																1	Substitution - Missense(1)	ovary(1)	3											93.0	83.0	87.0					3																	155232642		2203	4300	6503	156715336	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1466C>A	3.37:g.155232642G>T	ENSP00000345988:p.Ser489Tyr	Somatic		Capture	SOLID	Phase_III	156715336	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	SNP	33	Baylor	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718807	0.89205	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.8	5.8	0.92144	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.121462	0.64402	D	0.000018	T	0.68742	0.3034	M	0.67953	2.075	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.72075	0.976;0.921;0.935	T	0.66748	-0.5845	10	0.48119	T	0.1	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	471;489;489	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	Y	489;471;489;489;471;471	ENSP00000419100:S489Y;ENSP00000417502:S471Y;ENSP00000402759:S489Y;ENSP00000345988:S489Y;ENSP00000335469:S471Y;ENSP00000412977:S471Y	ENSP00000335469:S471Y	S	-	2	0	PLCH1	156715336	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.218000	0.95166	2.735000	0.93741	0.655000	0.94253	TCT		0.388	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		Missense_Mutation
PRKCB	5579	hgsc.bcm.edu	37	16	23999887	23999887	+	Silent	SNP	C	C	T	rs115750906		TCGA-25-1627-01	TCGA-25-1627-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr16:23999887C>T	ENST00000321728.7	+	3	439	c.264C>T	c.(262-264)ggC>ggT	p.G88G	PRKCB_ENST00000303531.7_Silent_p.G88G	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	88					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.G88G(3)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CCTGCCCTGGCGCTGACAAGG	0.488																																																3	Substitution - coding silent(3)	endometrium(2)|ovary(1)	16						C	,	2,4392	4.2+/-10.8	0,2,2195	123.0	110.0	115.0		264,264	-10.4	0.8	16	dbSNP_132	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PRKCB	NM_002738.6,NM_212535.2	,	0,3,6494	TT,TC,CC		0.0116,0.0455,0.0231	,	88/674,88/672	23999887	3,12991	2197	4300	6497	23907388	SO:0001819	synonymous_variant	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.264C>T	16.37:g.23999887C>T		Somatic		Capture	SOLID	Phase_III	23907388	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	CCDS10618.1	SNP	27	Baylor																																																																																				0.488	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		Silent
TMPRSS15	5651	hgsc.bcm.edu	37	21	19701534	19701534	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1627-01	TCGA-25-1627-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr21:19701534C>T	ENST00000284885.3	-	15	1765	c.1732G>A	c.(1732-1734)Gat>Aat	p.D578N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	578	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.D578N(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCAACTACATCGTTAATATTT	0.308																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	21											91.0	88.0	89.0					21																	19701534		2203	4298	6501	18623405	SO:0001583	missense	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1732G>A	21.37:g.19701534C>T	ENSP00000284885:p.Asp578Asn	Somatic		Capture	SOLID	Phase_III	18623405	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	SNP	31	Baylor	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758031	0.69648	.	.	ENSG00000154646	ENST00000284885	T	0.33865	1.39	5.53	5.53	0.82687	CUB (5);	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	H	0.94345	3.525	0.53005	D	0.999961	D	0.89917	1.0	D	0.97110	1.0	T	0.79598	-0.1737	9	.	.	.	.	17.3132	0.87215	0.0:1.0:0.0:0.0	.	578	P98073	ENTK_HUMAN	N	578	ENSP00000284885:D578N	.	D	-	1	0	TMPRSS15	18623405	1.000000	0.71417	0.983000	0.44433	0.332000	0.28634	5.609000	0.67661	2.758000	0.94735	0.655000	0.94253	GAT		0.308	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		Missense_Mutation
RAD54L	8438	hgsc.bcm.edu	37	1	46715736	46715736	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1627-01	TCGA-25-1627-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr1:46715736G>A	ENST00000371975.4	+	3	829	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	RAD54L_ENST00000442598.1_Missense_Mutation_p.R52Q	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	52					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R52Q(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TCTCCTTTTCGGAAACCTTTG	0.488								Direct reversal of damage;Homologous recombination																																								1	Substitution - Missense(1)	ovary(1)	1											165.0	144.0	151.0					1																	46715736		2203	4300	6503	46488323	SO:0001583	missense	8438			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.155G>A	1.37:g.46715736G>A	ENSP00000361043:p.Arg52Gln	Somatic		Capture	SOLID	Phase_III	46488323	Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	CCDS532.1	SNP	39	Baylor	.	.	.	.	.	.	.	.	.	.	G	33	5.273127	0.95429	.	.	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.89123	-2.47;-2.47	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.93025	0.7780	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	D	0.93691	0.7007	10	0.72032	D	0.01	-13.4543	18.1282	0.89592	0.0:0.0:1.0:0.0	.	52	Q92698	RAD54_HUMAN	Q	52	ENSP00000396113:R52Q;ENSP00000361043:R52Q	ENSP00000361043:R52Q	R	+	2	0	RAD54L	46488323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.097000	0.76967	2.442000	0.82660	0.655000	0.94253	CGG		0.488	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		Missense_Mutation
SCN2A	6326	hgsc.bcm.edu	37	2	166198805	166198805	+	Splice_Site	SNP	G	G	A			TCGA-25-1627-01	TCGA-25-1627-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr2:166198805G>A	ENST00000375437.2	+	15	2678		c.e15-1		SCN2A_ENST00000375427.2_Splice_Site|SCN2A_ENST00000357398.3_Splice_Site|SCN2A_ENST00000283256.6_Splice_Site	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit						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)	p.?(1)		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)	TTCTCATTTAGGTCTTCACAG	0.308																																																1	Unknown(1)	ovary(1)	2											99.0	100.0	100.0					2																	166198805		2203	4300	6503	165907051	SO:0001630	splice_region_variant	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.2389-1G>A	2.37:g.166198805G>A		Somatic		Capture	SOLID	Phase_III	165907051	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Splice_Site_SNP	SNP	ENST00000375437.2	37	CCDS33314.1	SNP	35	Baylor	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270940	0.59540	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3427	0.94350	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCN2A	165907051	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	9.864000	0.99589	2.561000	0.86390	0.643000	0.83706	.		0.308	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	Intron	Splice_Site_SNP
SEMA4A	64218	hgsc.bcm.edu	37	1	156131244	156131244	+	Silent	SNP	C	C	T			TCGA-25-1627-01	TCGA-25-1627-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr1:156131244C>T	ENST00000368285.3	+	9	1185	c.918C>T	c.(916-918)caC>caT	p.H306H	SEMA4A_ENST00000368284.1_Silent_p.H174H|SEMA4A_ENST00000355014.2_Silent_p.H306H|SEMA4A_ENST00000368282.1_Silent_p.H306H|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Silent_p.H174H	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	306	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.			CTQPGQLPFNVIRHAVLLPADSPTAPHIYAVFTSQW -> S APSRGSCPSTSSATRSCSPPILPQLPTSTQSSPPSG (in Ref. 1). {ECO:0000305}.	angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.H306H(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCATCCGCCACGCGGTCCTGC	0.652																																																1	Substitution - coding silent(1)	ovary(1)	1											54.0	49.0	51.0					1																	156131244		2203	4300	6503	154397868	SO:0001819	synonymous_variant	64218			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.918C>T	1.37:g.156131244C>T		Somatic		Capture	SOLID	Phase_III	154397868	B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Silent	SNP	ENST00000368285.3	37	CCDS1132.1	SNP	19	Baylor																																																																																				0.652	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		Silent
SMC2	10592	hgsc.bcm.edu	37	9	106875659	106875659	+	Silent	SNP	G	G	A			TCGA-25-1627-01	TCGA-25-1627-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr9:106875659G>A	ENST00000286398.7	+	11	1605	c.1317G>A	c.(1315-1317)aaG>aaA	p.K439K	SMC2_ENST00000374793.3_Silent_p.K439K|SMC2_ENST00000374787.3_Silent_p.K439K|SMC2_ENST00000303219.8_Silent_p.K439K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	439					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.K439K(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AAGTTAAGAAGATGGATAGTG	0.363																																																1	Substitution - coding silent(1)	ovary(1)	9											85.0	89.0	87.0					9																	106875659		2203	4300	6503	105915480	SO:0001819	synonymous_variant	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1317G>A	9.37:g.106875659G>A		Somatic		Capture	SOLID	Phase_III	105915480	Q6IEE0|Q9P1P2	Silent	SNP	ENST00000286398.7	37	CCDS35086.1	SNP	33	Baylor																																																																																				0.363	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			Silent
TET1	80312	hgsc.bcm.edu	37	10	70332749	70332749	+	Silent	SNP	G	G	C			TCGA-25-1627-01	TCGA-25-1627-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr10:70332749G>C	ENST00000373644.4	+	2	863	c.654G>C	c.(652-654)ctG>ctC	p.L218L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	218					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTGGGCCACTGGAAGGGACAC	0.498																																																0			10											48.0	44.0	45.0					10																	70332749		2203	4300	6503	70002755	SO:0001819	synonymous_variant	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.654G>C	10.37:g.70332749G>C		Somatic		Capture	SOLID	Phase_III	70002755	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	CCDS7281.1	SNP	47	Baylor																																																																																				0.498	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		Silent
TMPO	7112	hgsc.bcm.edu	37	12	98941441	98941441	+	Silent	SNP	T	T	C			TCGA-25-1627-01	TCGA-25-1627-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr12:98941441T>C	ENST00000556029.1	+	9	1526	c.1170T>C	c.(1168-1170)taT>taC	p.Y390Y	TMPO_ENST00000393053.2_Silent_p.Y281Y|TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000343315.5_Silent_p.Y350Y	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	390	Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)	p.Y390Y(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CATCTAAATATGTTCCTAAGT	0.448																																																1	Substitution - coding silent(1)	ovary(1)	12											86.0	86.0	86.0					12																	98941441		2203	4300	6503	97465572	SO:0001819	synonymous_variant	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.1170T>C	12.37:g.98941441T>C		Somatic		Capture	SOLID	Phase_III	97465572	A2T926|Q14861	Silent	SNP	ENST00000556029.1	37	CCDS31879.1	SNP	51	Baylor																																																																																				0.448	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		Silent
TP53	7157	hgsc.bcm.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-25-1627-01	TCGA-25-1627-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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"""	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	17	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102.0	94.0	97.0					17																	7578190		2203	4300	6503	7518915	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	Somatic		Capture	SOLID	Phase_III	7518915	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	SNP	49	Baylor	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
TTF2	8458	hgsc.bcm.edu	37	1	117635421	117635421	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1627-01	TCGA-25-1627-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr1:117635421G>C	ENST00000369466.4	+	18	2918	c.2874G>C	c.(2872-2874)ttG>ttC	p.L958F	MIR942_ENST00000401111.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	958					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)	p.L958F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCAGTGCTTTGACCTTGTCAG	0.507																																																1	Substitution - Missense(1)	ovary(1)	1											196.0	165.0	176.0					1																	117635421		2203	4300	6503	117436944	SO:0001583	missense	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2874G>C	1.37:g.117635421G>C	ENSP00000358478:p.Leu958Phe	Somatic		Capture	SOLID	Phase_III	117436944	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	CCDS892.1	SNP	45	Baylor	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323437	0.60634	.	.	ENSG00000116830	ENST00000369466	D	0.88818	-2.43	5.06	4.12	0.48240	.	0.596324	0.12689	N	0.447316	D	0.90896	0.7139	M	0.68952	2.095	0.80722	D	1	D	0.65815	0.995	D	0.65443	0.935	D	0.89895	0.4040	10	0.66056	D	0.02	-2.6851	11.2337	0.48927	0.0:0.1845:0.8155:0.0	.	958	Q9UNY4	TTF2_HUMAN	F	958	ENSP00000358478:L958F	ENSP00000358478:L958F	L	+	3	2	TTF2	117436944	1.000000	0.71417	0.987000	0.45799	0.590000	0.36582	8.751000	0.91628	1.322000	0.45245	0.650000	0.86243	TTG		0.507	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			Missense_Mutation
TRIM58	25893	hgsc.bcm.edu	37	1	248039433	248039433	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1627-01	TCGA-25-1627-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-25-1627-01	TCGA-25-1627-10	g.chr1:248039433C>A	ENST00000366481.3	+	6	1151	c.1103C>A	c.(1102-1104)cCa>cAa	p.P368Q	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	368	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.P368Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GACACACTGCCAAGAAAGGGG	0.562																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	1											112.0	108.0	109.0					1																	248039433		2203	4300	6503	246106056	SO:0001583	missense	25893			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1103C>A	1.37:g.248039433C>A	ENSP00000355437:p.Pro368Gln	Somatic		Capture	SOLID	Phase_III	246106056	Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	CCDS1636.1	SNP	21	Baylor	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.757144	0.00657	.	.	ENSG00000162722	ENST00000366481	T	0.66995	-0.24	3.84	-0.414	0.12359	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.328680	0.04891	N	0.449556	T	0.43100	0.1232	N	0.10645	0.015	0.09310	N	1	B	0.27951	0.195	B	0.37480	0.251	T	0.32214	-0.9915	10	0.09338	T	0.73	.	0.483	0.00551	0.3352:0.2919:0.1645:0.2083	.	368	Q8NG06	TRI58_HUMAN	Q	368	ENSP00000355437:P368Q	ENSP00000355437:P368Q	P	+	2	0	TRIM58	246106056	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.012000	0.13287	-0.059000	0.13154	0.650000	0.86243	CCA		0.562	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		Missense_Mutation
