#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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
APTX	54840	hgsc.bcm.edu	37	9	32988112	32988118	+	Frame_Shift_Del	DEL	TCTGCTT	TCTGCTT	-	rs369431727		TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	TCTGCTT	TCTGCTT	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr9:32988112_32988118delTCTGCTT	ENST00000379819.1	-	3	184_190	c.185_191delAAGCAGA	c.(184-192)aaagcagagfs	p.KAE62fs	APTX_ENST00000379825.2_Frame_Shift_Del_p.KAE62fs|APTX_ENST00000379813.3_Frame_Shift_Del_p.KAE48fs|APTX_ENST00000468275.1_Frame_Shift_Del_p.KAE48fs|APTX_ENST00000476858.1_Intron|APTX_ENST00000436040.2_Frame_Shift_Del_p.KAE48fs|APTX_ENST00000309615.3_Frame_Shift_Del_p.KAE62fs|APTX_ENST00000463596.1_Frame_Shift_Del_p.KAE48fs|APTX_ENST00000397172.3_Frame_Shift_Del_p.KAE62fs|APTX_ENST00000379817.2_Frame_Shift_Del_p.KAE48fs			Q7Z2E3	APTX_HUMAN	aprataxin	62	FHA-like.|Interactions with ADPRT and NCL.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)	p.K62fs*9(1)		endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		CTTGTTACACTCTGCTTTCAACTGTAC	0.367								Editing and processing nucleases																																								1	Deletion - Frameshift(1)	ovary(1)	9																																								32978118	SO:0001589	frameshift_variant	54840			AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"""ataxia 1, early onset with hypoalbuminemia"""	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379819.1:c.185_191delAAGCAGA	9.37:g.32988112_32988118delTCTGCTT	ENSP00000369147:p.Lys62fs		32978112	A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Frame_Shift_Del	DEL	ENST00000379819.1	37																																																																																					0.367	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000052028.2	NM_017692	
CCDC141	285025	hgsc.bcm.edu	37	2	179701828	179701828	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr2:179701828C>A	ENST00000420890.2	-	23	4235	c.4118G>T	c.(4117-4119)aGg>aTg	p.R1373M	CCDC141_ENST00000295723.5_Missense_Mutation_p.R798M|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1373								p.R798M(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGATTGAAACCTGAGGCCCGA	0.488																																																1	Substitution - Missense(1)	ovary(1)	2											43.0	44.0	44.0					2																	179701828		2203	4300	6503	179410073	SO:0001583	missense	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.4118G>T	2.37:g.179701828C>A	ENSP00000395995:p.Arg1373Met		179410073	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	C	5.907	0.351409	0.11182	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.46819	0.86;1.58;1.57	6.17	0.816	0.18768	.	1.699680	0.02669	N	0.108361	T	0.28400	0.0702	N	0.08118	0	0.09310	N	1	B;B	0.18968	0.017;0.032	B;B	0.13407	0.009;0.009	T	0.15896	-1.0421	10	0.31617	T	0.26	2.4456	5.9971	0.19499	0.1951:0.5071:0.0:0.2977	.	798;798	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	M	1373;817;798	ENSP00000395995:R1373M;ENSP00000344627:R817M;ENSP00000295723:R798M	ENSP00000295723:R798M	R	-	2	0	CCDC141	179410073	0.098000	0.21812	0.000000	0.03702	0.077000	0.17291	0.523000	0.22925	0.191000	0.20236	-0.136000	0.14681	AGG		0.488	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
EXOC2	55770	hgsc.bcm.edu	37	6	637784	637802	+	Frame_Shift_Del	DEL	CCGGTCACAAGGGGGGGTT	CCGGTCACAAGGGGGGGTT	-	rs201586583|rs148665259	byFrequency	TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	CCGGTCACAAGGGGGGGTT	CCGGTCACAAGGGGGGGTT	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr6:637784_637802delCCGGTCACAAGGGGGGGTT	ENST00000230449.4	-	2	152_170	c.17_35delAACCCCCCCTTGTGACCGG	c.(16-36)caacccccccttgtgaccggcfs	p.QPPLVTG6fs	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	6					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.G12D(1)|p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TGGAGAGATGCCGGTCACAAGGGGGGGTTGTCGTGATCG	0.489																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|ovary(1)	6																																								582802	SO:0001589	frameshift_variant	55770			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.17_35delAACCCCCCCTTGTGACCGG	6.37:g.637784_637802delCCGGTCACAAGGGGGGGTT	ENSP00000230449:p.Gln6fs		582784	B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Frame_Shift_Del	DEL	ENST00000230449.4	37	CCDS34327.1																																																																																				0.489	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303	
JAK2	3717	hgsc.bcm.edu	37	9	5072586	5072586	+	Missense_Mutation	SNP	T	T	C			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr9:5072586T>C	ENST00000381652.3	+	13	2230	c.1736T>C	c.(1735-1737)cTt>cCt	p.L579P	JAK2_ENST00000544510.1_Missense_Mutation_p.L430P|JAK2_ENST00000539801.1_Missense_Mutation_p.L579P	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	579	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.L579P(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACAGAAGTTCTTTTAAAAGTT	0.358		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																														Dom	yes		9	9p24	3717	Janus kinase 2		L	1	Substitution - Missense(1)	ovary(1)	9											66.0	68.0	67.0					9																	5072586		2203	4300	6503	5062586	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1736T>C	9.37:g.5072586T>C	ENSP00000371067:p.Leu579Pro		5062586	O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391391	0.83011	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.35048	1.33;1.33;1.33	5.73	5.73	0.89815	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.171754	0.52532	D	0.000067	T	0.57519	0.2059	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	T	0.60707	-0.7210	10	0.87932	D	0	-18.328	16.0085	0.80380	0.0:0.0:0.0:1.0	.	579	O60674	JAK2_HUMAN	P	579;579;430	ENSP00000440387:L579P;ENSP00000371067:L579P;ENSP00000443103:L430P	ENSP00000371067:L579P	L	+	2	0	JAK2	5062586	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.685000	0.84117	2.185000	0.69588	0.477000	0.44152	CTT		0.358	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
MAK16	84549	hgsc.bcm.edu	37	8	33353079	33353079	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr8:33353079C>T	ENST00000360128.6	+	7	924	c.467C>T	c.(466-468)gCt>gTt	p.A156V	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	156						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A156V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						TTAATAGCTGCTCAGCTGGAC	0.383																																																1	Substitution - Missense(1)	ovary(1)	8											103.0	100.0	101.0					8																	33353079		2203	4300	6503	33472621	SO:0001583	missense	84549			AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"""RNA binding motif (RRM) containing"""	13703	protein-coding gene	gene with protein product			"""RNA binding motif protein 13"""	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.467C>T	8.37:g.33353079C>T	ENSP00000353246:p.Ala156Val		33472621	B2RB44|Q5U5T1|Q86UC4|Q96SY6	Missense_Mutation	SNP	ENST00000360128.6	37	CCDS6089.1	.	.	.	.	.	.	.	.	.	.	C	34	5.365945	0.95900	.	.	ENSG00000198042	ENST00000360128	T	0.59224	0.28	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.83413	0.5249	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87847	0.2655	10	0.87932	D	0	-13.2293	19.0874	0.93209	0.0:1.0:0.0:0.0	.	156	Q9BXY0	MAK16_HUMAN	V	156	ENSP00000353246:A156V	ENSP00000353246:A156V	A	+	2	0	MAK16	33472621	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.267000	0.78462	2.623000	0.88846	0.563000	0.77884	GCT		0.383	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376559.3	NM_032509	
SEMA4A	64218	hgsc.bcm.edu	37	1	156131281	156131281	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr1:156131281C>T	ENST00000368285.3	+	9	1222	c.955C>T	c.(955-957)Cac>Tac	p.H319Y	SEMA4A_ENST00000368284.1_Missense_Mutation_p.H187Y|SEMA4A_ENST00000368282.1_Missense_Mutation_p.H319Y|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Missense_Mutation_p.H187Y|SEMA4A_ENST00000355014.2_Missense_Mutation_p.H319Y	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	319	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.H319Y(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CACAGCTCCCCACATCTACGC	0.672																																																1	Substitution - Missense(1)	ovary(1)	1											53.0	50.0	51.0					1																	156131281		2203	4300	6503	154397905	SO:0001583	missense	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.955C>T	1.37:g.156131281C>T	ENSP00000357268:p.His319Tyr		154397905	B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	C	3.396	-0.123209	0.06795	.	.	ENSG00000196189	ENST00000435124;ENST00000414683;ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T;T;T	0.21734	2.89;1.99;2.89;2.89;2.89;2.89;2.89	5.42	0.728	0.18260	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.873795	0.09783	N	0.756391	T	0.02767	0.0083	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.45308	-0.9270	10	0.29301	T	0.29	.	2.4441	0.04501	0.2592:0.4628:0.1165:0.1614	.	187;319	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	Y	319;220;319;319;187;281;281;187;319	ENSP00000401391:H319Y;ENSP00000399230:H220Y;ENSP00000347117:H319Y;ENSP00000357268:H319Y;ENSP00000357267:H187Y;ENSP00000357269:H187Y;ENSP00000357265:H319Y	ENSP00000347117:H319Y	H	+	1	0	SEMA4A	154397905	0.000000	0.05858	0.002000	0.10522	0.160000	0.22226	0.334000	0.19787	0.236000	0.21180	0.455000	0.32223	CAC		0.672	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367	
SNX8	29886	hgsc.bcm.edu	37	7	2311586	2311586	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr7:2311586C>A	ENST00000222990.3	-	4	481	c.439G>T	c.(439-441)Gcc>Tcc	p.A147S		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	147	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.		A -> G (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.A147S(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CTCCTCCTGGCCTCGATGAAC	0.627																																																1	Substitution - Missense(1)	ovary(1)	7											78.0	64.0	69.0					7																	2311586		2203	4300	6503	2278112	SO:0001583	missense	29886			AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.439G>T	7.37:g.2311586C>A	ENSP00000222990:p.Ala147Ser		2278112	A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	37	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	C	7.933	0.741194	0.15642	.	.	ENSG00000106266	ENST00000222990;ENST00000435060;ENST00000457286;ENST00000435336	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.01	2.89	0.33648	Phox homologous domain (5);	0.396986	0.28730	N	0.014332	T	0.13756	0.0333	N	0.05383	-0.06	0.25553	N	0.987065	B	0.15719	0.014	B	0.20184	0.028	T	0.22417	-1.0217	10	0.09590	T	0.72	.	3.26	0.06845	0.488:0.3449:0.0:0.1672	.	147	Q9Y5X2	SNX8_HUMAN	S	147;133;94;94	ENSP00000222990:A147S;ENSP00000392437:A133S;ENSP00000406954:A94S;ENSP00000406212:A94S	ENSP00000222990:A147S	A	-	1	0	SNX8	2278112	0.995000	0.38212	0.997000	0.53966	0.982000	0.71751	2.348000	0.44045	1.078000	0.41014	0.655000	0.94253	GCC		0.627	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2		
UNG	7374	hgsc.bcm.edu	37	12	109536217	109536217	+	Missense_Mutation	SNP	T	T	C			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr12:109536217T>C	ENST00000336865.2	+	1	295	c.86T>C	c.(85-87)cTc>cCc	p.L29P	UNG_ENST00000242576.2_Intron	NM_003362.3	NP_003353.1			uracil-DNA glycosylase									p.L29P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TTGAGCCGCCTCTGCGGGGAC	0.701								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																																							1	Substitution - Missense(1)	ovary(1)	12											19.0	23.0	21.0					12																	109536217		2183	4245	6428	108020600	SO:0001583	missense	7374	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"""uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"""	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000336865.2:c.86T>C	12.37:g.109536217T>C	ENSP00000337398:p.Leu29Pro		108020600		Missense_Mutation	SNP	ENST00000336865.2	37	CCDS9125.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.809454	0.50421	.	.	ENSG00000076248	ENST00000336865	T	0.78816	-1.21	5.1	-3.58	0.04597	.	.	.	.	.	T	0.49525	0.1562	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24048	-1.0171	9	0.29301	T	0.29	.	1.8507	0.03169	0.1368:0.3258:0.1247:0.4128	.	29	E5KTA6	.	P	29	ENSP00000337398:L29P	ENSP00000337398:L29P	L	+	2	0	UNG	108020600	0.000000	0.05858	0.000000	0.03702	0.340000	0.28889	-0.917000	0.04025	-0.851000	0.04147	-0.379000	0.06801	CTC		0.701	UNG-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000403069.1	NM_080911	
APLF	200558	hgsc.bcm.edu	37	2	68805019	68805019	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr2:68805019C>A	ENST00000303795.4	+	10	1572	c.1401C>A	c.(1399-1401)agC>agA	p.S467R	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	467					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.S467R(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TGAACGACAGCTTTCTAGATG	0.403																																																1	Substitution - Missense(1)	ovary(1)	2											176.0	173.0	174.0					2																	68805019		2203	4300	6503	68658523	SO:0001583	missense	200558			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1401C>A	2.37:g.68805019C>A	ENSP00000307004:p.Ser467Arg		68658523	A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318465	0.60524	.	.	ENSG00000169621	ENST00000303795	T	0.29397	1.57	5.51	2.76	0.32466	.	0.177128	0.53938	N	0.000055	T	0.32704	0.0838	M	0.63428	1.95	0.45791	D	0.998679	P	0.41673	0.759	B	0.43052	0.406	T	0.03287	-1.1052	10	0.40728	T	0.16	.	9.9039	0.41364	0.0:0.7742:0.0:0.2258	.	467	Q8IW19	APLF_HUMAN	R	467	ENSP00000307004:S467R	ENSP00000307004:S467R	S	+	3	2	APLF	68658523	1.000000	0.71417	0.919000	0.36401	0.818000	0.46254	1.351000	0.34022	0.297000	0.22615	0.650000	0.86243	AGC		0.403	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545	
CARD6	84674	hgsc.bcm.edu	37	5	40854092	40854092	+	Silent	SNP	A	A	T			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr5:40854092A>T	ENST00000254691.5	+	3	2857	c.2658A>T	c.(2656-2658)atA>atT	p.I886I	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	886					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.I886I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAAAACTGATAAGAACATCCC	0.488																																																1	Substitution - coding silent(1)	ovary(1)	5											101.0	101.0	101.0					5																	40854092		2203	4300	6503	40889849	SO:0001819	synonymous_variant	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2658A>T	5.37:g.40854092A>T			40889849	Q52LR2	Silent	SNP	ENST00000254691.5	37	CCDS3935.1																																																																																				0.488	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3		
CPXCR1	53336	hgsc.bcm.edu	37	X	88009031	88009031	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chrX:88009031C>T	ENST00000276127.4	+	3	875	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	CPXCR1_ENST00000373111.1_Missense_Mutation_p.R206C	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	206							metal ion binding (GO:0046872)	p.R206C(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GCACTACTACCGTCCCCTCAC	0.423																																																1	Substitution - Missense(1)	ovary(1)	X											75.0	60.0	65.0					X																	88009031		2203	4300	6503	87895687	SO:0001583	missense	53336			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.616C>T	X.37:g.88009031C>T	ENSP00000276127:p.Arg206Cys		87895687	B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006596	0.35415	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.25085	1.82;1.82	2.85	1.06	0.20224	.	1.440130	0.04976	N	0.464830	T	0.15392	0.0371	N	0.19112	0.55	0.09310	N	1	B	0.21821	0.061	B	0.15484	0.013	T	0.26326	-1.0106	9	.	.	.	0.1407	4.6943	0.12795	0.0:0.6831:0.0:0.3169	.	206	Q8N123	CPXCR_HUMAN	C	206	ENSP00000276127:R206C;ENSP00000362203:R206C	.	R	+	1	0	CPXCR1	87895687	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	0.135000	0.15952	0.165000	0.19558	0.594000	0.82650	CGT		0.423	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048	
CYFIP1	23191	hgsc.bcm.edu	37	15	22928450	22928450	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr15:22928450G>C	ENST00000313077.7	+	5	452	c.327G>C	c.(325-327)gaG>gaC	p.E109D	CYFIP1_ENST00000560848.1_Missense_Mutation_p.E109D	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.E109D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AAATCTACGAGAAAACCGTGG	0.473																																																1	Substitution - Missense(1)	ovary(1)	15											134.0	148.0	143.0					15																	22928450		2203	4300	6503	20479891	SO:0001583	missense	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.327G>C	15.37:g.22928450G>C	ENSP00000324549:p.Glu109Asp		20479891		Missense_Mutation	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300876	0.60195	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.44881	0.91	4.81	2.93	0.34026	.	0.161181	0.42548	D	0.000699	T	0.55433	0.1920	M	0.68952	2.095	0.80722	D	1	D;B	0.58268	0.982;0.166	D;B	0.67548	0.952;0.405	T	0.51934	-0.8642	10	0.45353	T	0.12	-24.6022	7.7071	0.28657	0.3224:0.0:0.6776:0.0	.	137;109	E7EQ04;Q7L576	.;CYFP1_HUMAN	D	109;137	ENSP00000324549:E109D	ENSP00000324549:E109D	E	+	3	2	CYFIP1	20479891	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.190000	0.42630	0.647000	0.30713	0.555000	0.69702	GAG		0.473	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608	
FAM129A	116496	hgsc.bcm.edu	37	1	184792833	184792833	+	Missense_Mutation	SNP	T	T	G			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr1:184792833T>G	ENST00000367511.3	-	7	954	c.761A>C	c.(760-762)cAg>cCg	p.Q254P	FAM129A_ENST00000487074.1_Intron|RNU7-13P_ENST00000516413.1_RNA	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	254					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q254P(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CAGGTCTGTCTGAAGAGTGGG	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											132.0	117.0	122.0					1																	184792833		2203	4300	6503	183059456	SO:0001583	missense	116496			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.761A>C	1.37:g.184792833T>G	ENSP00000356481:p.Gln254Pro		183059456	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.595738	0.86953	.	.	ENSG00000135842	ENST00000367511	T	0.12147	2.71	5.76	5.76	0.90799	.	0.118599	0.64402	D	0.000017	T	0.34803	0.0910	M	0.64997	1.995	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.02294	-1.1181	10	0.46703	T	0.11	-25.5836	14.6553	0.68828	0.0:0.0:0.0:1.0	.	254	Q9BZQ8	NIBAN_HUMAN	P	254	ENSP00000356481:Q254P	ENSP00000356481:Q254P	Q	-	2	0	FAM129A	183059456	1.000000	0.71417	0.919000	0.36401	0.961000	0.63080	5.056000	0.64287	2.191000	0.70037	0.533000	0.62120	CAG		0.512	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1		
FAM71B	153745	hgsc.bcm.edu	37	5	156589770	156589770	+	Silent	SNP	G	G	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr5:156589770G>A	ENST00000302938.4	-	2	1601	c.1506C>T	c.(1504-1506)caC>caT	p.H502H		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	502						nucleus (GO:0005634)		p.H502H(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGTGGAGCTGTGGGTGGAGC	0.488																																																1	Substitution - coding silent(1)	ovary(1)	5											165.0	165.0	165.0					5																	156589770		2203	4300	6503	156522348	SO:0001819	synonymous_variant	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1506C>T	5.37:g.156589770G>A			156522348	Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	CCDS4335.1																																																																																				0.488	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
GPR113	165082	hgsc.bcm.edu	37	2	26533949	26533949	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr2:26533949G>A	ENST00000311519.1	-	11	2646	c.2647C>T	c.(2647-2649)Ctc>Ttc	p.L883F	GPR113_ENST00000541401.1_Missense_Mutation_p.L486F|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Missense_Mutation_p.L684F|GPR113_ENST00000421160.2_Missense_Mutation_p.L814F	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	883					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L684F(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGAGGGGGAGAACTCGGTGC	0.607																																																1	Substitution - Missense(1)	ovary(1)	2											25.0	27.0	26.0					2																	26533949		2203	4297	6500	26387453	SO:0001583	missense	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2647C>T	2.37:g.26533949G>A	ENSP00000307831:p.Leu883Phe		26387453	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624918	0.46840	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.99	5.99	0.97316	GPCR, family 2-like (1);	.	.	.	.	T	0.57242	0.2040	M	0.66506	2.035	0.80722	D	1	D;D;P;D	0.69078	0.997;0.995;0.956;0.997	D;D;D;D	0.75484	0.986;0.976;0.986;0.984	T	0.54642	-0.8263	9	0.48119	T	0.1	-26.7766	13.5423	0.61681	0.0:0.156:0.844:0.0	.	814;684;883;486	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	F	486;684;814;883	ENSP00000445729:L486F;ENSP00000327396:L684F;ENSP00000388537:L814F;ENSP00000307831:L883F	ENSP00000307831:L883F	L	-	1	0	GPR113	26387453	0.328000	0.24687	0.947000	0.38551	0.662000	0.39071	2.288000	0.43514	2.844000	0.97970	0.650000	0.86243	CTC		0.607	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835	
HFE2	148738	hgsc.bcm.edu	37	1	145416401	145416401	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr1:145416401A>G	ENST00000336751.5	+	4	984	c.746A>G	c.(745-747)gAt>gGt	p.D249G	HFE2_ENST00000497365.1_Missense_Mutation_p.D23G|HFE2_ENST00000357836.5_Missense_Mutation_p.D136G|HFE2_ENST00000475797.1_Missense_Mutation_p.D23G	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	249					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.D249G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCTTTGAAGATGGTTCTATC	0.473																																																1	Substitution - Missense(1)	ovary(1)	1											138.0	139.0	139.0					1																	145416401		2203	4300	6503	144127758	SO:0001583	missense	148738			AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.746A>G	1.37:g.145416401A>G	ENSP00000337014:p.Asp249Gly		144127758	B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	CCDS910.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525552	0.85600	.	.	ENSG00000168509	ENST00000357836;ENST00000336751;ENST00000497365;ENST00000475797	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	5.18	5.18	0.71444	Repulsive guidance molecule, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94918	0.8357	M	0.79258	2.445	0.51482	D	0.99992	D	0.89917	1.0	D	0.91635	0.999	D	0.95584	0.8649	10	0.87932	D	0	-15.554	13.0252	0.58810	1.0:0.0:0.0:0.0	.	249	Q6ZVN8	RGMC_HUMAN	G	136;249;23;23	ENSP00000350495:D136G;ENSP00000337014:D249G;ENSP00000421820:D23G;ENSP00000425716:D23G	ENSP00000337014:D249G	D	+	2	0	HFE2	144127758	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.976000	0.93442	2.173000	0.68751	0.533000	0.62120	GAT		0.473	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277	
LAIR2	3904	hgsc.bcm.edu	37	19	55019332	55019332	+	Silent	SNP	T	T	C			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr19:55019332T>C	ENST00000301202.2	+	3	419	c.297T>C	c.(295-297)taT>taC	p.Y99Y	LAIR2_ENST00000351841.2_Silent_p.Y99Y	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	99	Ig-like C2-type.					extracellular region (GO:0005576)		p.Y99Y(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CCGGGCTTTATCGCTGCCTCT	0.507																																																1	Substitution - coding silent(1)	ovary(1)	19											121.0	113.0	116.0					19																	55019332		2203	4300	6503	59711144	SO:0001819	synonymous_variant	3904			AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.297T>C	19.37:g.55019332T>C			59711144	Q6PEZ4	Silent	SNP	ENST00000301202.2	37	CCDS12897.1																																																																																				0.507	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1		
MOXD1	26002	hgsc.bcm.edu	37	6	132618425	132618425	+	Missense_Mutation	SNP	A	A	G	rs549651953	byFrequency	TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr6:132618425A>G	ENST00000367963.3	-	12	1827	c.1709T>C	c.(1708-1710)aTa>aCa	p.I570T	MOXD1_ENST00000336749.3_Missense_Mutation_p.I502T	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	570						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.I570T(1)|p.I502T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GGGTCTTTCTATATCTGGAGG	0.443													A|||	3	0.000599042	0.0	0.0	5008	,	,		21348	0.0		0.0	False		,,,				2504	0.0031															2	Substitution - Missense(2)	ovary(2)	6											167.0	151.0	157.0					6																	132618425		2203	4300	6503	132660118	SO:0001583	missense	26002			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1709T>C	6.37:g.132618425A>G	ENSP00000356940:p.Ile570Thr		132660118	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	A	10.97	1.503002	0.26949	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.52754	0.65;0.65	5.79	2.15	0.27550	.	0.613511	0.16594	N	0.207623	T	0.21881	0.0527	L	0.51422	1.61	0.09310	N	1	B;B	0.22211	0.057;0.066	B;B	0.24394	0.01;0.053	T	0.27673	-1.0067	10	0.66056	D	0.02	-0.6605	9.0881	0.36594	0.8202:0.0:0.1798:0.0	.	570;502	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	T	570;502	ENSP00000356940:I570T;ENSP00000336998:I502T	ENSP00000336998:I502T	I	-	2	0	MOXD1	132660118	0.002000	0.14202	0.000000	0.03702	0.030000	0.12068	1.334000	0.33827	0.136000	0.18733	-0.256000	0.11100	ATA		0.443	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529	
PCSK1	5122	hgsc.bcm.edu	37	5	95761604	95761604	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr5:95761604C>G	ENST00000311106.3	-	3	553	c.316G>C	c.(316-318)Gaa>Caa	p.E106Q	PCSK1_ENST00000508626.1_Missense_Mutation_p.E59Q|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	106					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.E106Q(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTACTTCTTTCTTTTTCATAC	0.373																																																1	Substitution - Missense(1)	ovary(1)	5											174.0	156.0	162.0					5																	95761604		2203	4300	6503	95787360	SO:0001583	missense	5122				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.316G>C	5.37:g.95761604C>G	ENSP00000308024:p.Glu106Gln		95787360	B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	1.190	-0.635451	0.03584	.	.	ENSG00000175426	ENST00000311106;ENST00000508626;ENST00000509190	T;T;T	0.66815	-0.07;-0.23;2.31	5.63	3.74	0.42951	.	0.301186	0.40818	N	0.001017	T	0.40839	0.1133	N	0.05487	-0.04	0.27306	N	0.957449	B	0.16166	0.016	B	0.09377	0.004	T	0.18681	-1.0329	10	0.33141	T	0.24	-21.7589	6.4665	0.21985	0.0:0.6577:0.1483:0.194	.	106	P29120	NEC1_HUMAN	Q	106;59;106	ENSP00000308024:E106Q;ENSP00000421600:E59Q;ENSP00000427294:E106Q	ENSP00000308024:E106Q	E	-	1	0	PCSK1	95787360	0.998000	0.40836	0.999000	0.59377	0.174000	0.22865	0.580000	0.23803	1.519000	0.48950	-0.136000	0.14681	GAA		0.373	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439	
RNF213	57674	hgsc.bcm.edu	37	17	78320334	78320334	+	Silent	SNP	G	G	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr17:78320334G>A	ENST00000582970.1	+	29	8342	c.8199G>A	c.(8197-8199)ctG>ctA	p.L2733L	RNF213_ENST00000508628.2_Silent_p.L2782L|RNF213_ENST00000336301.6_Silent_p.L806L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2733					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L806L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATCTTTTTCTGGACGGCGTAC	0.507																																																1	Substitution - coding silent(1)	ovary(1)	17											65.0	60.0	62.0					17																	78320334		2203	4300	6503	75934929	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8199G>A	17.37:g.78320334G>A			75934929	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																				0.507	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
TEX11	56159	hgsc.bcm.edu	37	X	69945170	69945170	+	Silent	SNP	A	A	G			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chrX:69945170A>G	ENST00000395889.2	-	13	1067	c.912T>C	c.(910-912)ctT>ctC	p.L304L	TEX11_ENST00000374333.2_Silent_p.L289L|TEX11_ENST00000344304.3_Silent_p.L304L|TEX11_ENST00000374320.2_5'Flank	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	304					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.L289L(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TTTTTAAGAAAAGCCCAGGAG	0.318																																																1	Substitution - coding silent(1)	ovary(1)	X											79.0	75.0	76.0					X																	69945170		2201	4297	6498	69861895	SO:0001819	synonymous_variant	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.912T>C	X.37:g.69945170A>G			69861895	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Silent	SNP	ENST00000395889.2	37	CCDS35323.1																																																																																				0.318	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		
TP53	7157	hgsc.bcm.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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"""	420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	17	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	7518273	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.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser		7518273	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	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	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ZC3H13	23091	hgsc.bcm.edu	37	13	46619619	46619619	+	Silent	SNP	G	G	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr13:46619619G>A	ENST00000242848.4	-	2	372	c.24C>T	c.(22-24)gtC>gtT	p.V8V	ZC3H13_ENST00000282007.3_Silent_p.V8V			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	8							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.V8V(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTTCCACTGTGACCTTCCTTC	0.408																																					Esophageal Squamous(187;747 2077 11056 31291 44172)											1	Substitution - coding silent(1)	ovary(1)	13											198.0	202.0	201.0					13																	46619619		2203	4300	6503	45517620	SO:0001819	synonymous_variant	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.24C>T	13.37:g.46619619G>A			45517620	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	ENST00000242848.4	37																																																																																					0.408	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
ANO3	63982	hgsc.bcm.edu	37	11	26660769	26660769	+	Missense_Mutation	SNP	T	T	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr11:26660769T>A	ENST00000256737.3	+	21	2974	c.2122T>A	c.(2122-2124)Ttc>Atc	p.F708I	ANO3_ENST00000537978.1_Missense_Mutation_p.F692I|ANO3_ENST00000531568.1_Missense_Mutation_p.F562I|ANO3_ENST00000525139.1_Missense_Mutation_p.F692I	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	708					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.F708I(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATGGAACAACTTCATGGAACT	0.408																																																1	Substitution - Missense(1)	ovary(1)	11											162.0	139.0	147.0					11																	26660769		2203	4299	6502	26617345	SO:0001583	missense	63982			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2122T>A	11.37:g.26660769T>A	ENSP00000256737:p.Phe708Ile		26617345	B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.646309	0.29246	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.50360	0.1611	N	0.11427	0.14	0.80722	D	1	D;D	0.56035	0.974;0.974	P;P	0.60236	0.777;0.871	T	0.48198	-0.9056	10	0.02654	T	1	.	15.4039	0.74863	0.0:0.0:0.0:1.0	.	610;708	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	I	692;692;708;610;562	ENSP00000440737:F692I;ENSP00000432576:F692I;ENSP00000256737:F708I;ENSP00000432394:F562I	ENSP00000256737:F708I	F	+	1	0	ANO3	26617345	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.201000	0.72124	2.038000	0.60285	0.383000	0.25322	TTC		0.408	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418	
APOB	338	hgsc.bcm.edu	37	2	21230896	21230896	+	Silent	SNP	G	G	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr2:21230896G>A	ENST00000233242.1	-	26	8971	c.8844C>T	c.(8842-8844)ttC>ttT	p.F2948F		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2948					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.F2948F(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCTATGGTGAAACTAATTT	0.443																																																1	Substitution - coding silent(1)	ovary(1)	2											154.0	155.0	154.0					2																	21230896		2203	4300	6503	21084401	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8844C>T	2.37:g.21230896G>A			21084401	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
ARFGEF1	10565	hgsc.bcm.edu	37	8	68123823	68123823	+	Missense_Mutation	SNP	T	T	C			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr8:68123823T>C	ENST00000262215.3	-	34	5103	c.4714A>G	c.(4714-4716)Att>Gtt	p.I1572V	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.I1026V|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.I410V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1572					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.I1572V(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAATCATGAATATCTACAGAC	0.323																																																1	Substitution - Missense(1)	ovary(1)	8											43.0	44.0	43.0					8																	68123823		2203	4300	6503	68286377	SO:0001583	missense	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4714A>G	8.37:g.68123823T>C	ENSP00000262215:p.Ile1572Val		68286377	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.027707	0.35797	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.42131	0.98;0.98;0.98	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.28928	0.0718	N	0.22421	0.69	0.36418	D	0.864168	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22800	-1.0206	10	0.12430	T	0.62	.	15.2018	0.73142	0.0:0.0:0.0:1.0	.	1572;1050;1026	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	V	1026;1572;410	ENSP00000428429:I1026V;ENSP00000262215:I1572V;ENSP00000430891:I410V	ENSP00000262215:I1572V	I	-	1	0	ARFGEF1	68286377	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.683000	0.74533	2.126000	0.65437	0.533000	0.62120	ATT		0.323	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421	
COL22A1	169044	hgsc.bcm.edu	37	8	139703108	139703108	+	Missense_Mutation	SNP	C	C	T	rs549307992	byFrequency	TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr8:139703108C>T	ENST00000303045.6	-	36	3210	c.2764G>A	c.(2764-2766)Gga>Aga	p.G922R	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G922R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	922	Collagen-like 7.|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.G922R(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)			CCGACATGTCCGGGAGCACCC	0.532										HNSCC(7;0.00092)			C|||	2	0.000399361	0.0	0.0	5008	,	,		20760	0.0		0.0	False		,,,				2504	0.002															1	Substitution - Missense(1)	ovary(1)	8											54.0	48.0	50.0					8																	139703108		2202	4300	6502	139772290	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.2764G>A	8.37:g.139703108C>T	ENSP00000303153:p.Gly922Arg		139772290	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287096	0.59867	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99429	-5.89;-5.89	5.46	5.46	0.80206	.	0.000000	0.48767	U	0.000177	D	0.99648	0.9870	H	0.94620	3.56	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97767	1.0224	10	0.87932	D	0	.	15.1644	0.72811	0.0:1.0:0.0:0.0	.	922;922	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	R	922;922;635	ENSP00000303153:G922R;ENSP00000387655:G922R	ENSP00000303153:G922R	G	-	1	0	COL22A1	139772290	0.998000	0.40836	0.996000	0.52242	0.746000	0.42486	3.494000	0.53273	2.739000	0.93911	0.643000	0.83706	GGA		0.532	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
COL6A3	1293	hgsc.bcm.edu	37	2	238285666	238285666	+	Missense_Mutation	SNP	A	A	C			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr2:238285666A>C	ENST00000295550.4	-	7	3271	c.2819T>G	c.(2818-2820)gTg>gGg	p.V940G	COL6A3_ENST00000347401.3_Missense_Mutation_p.V739G|COL6A3_ENST00000409809.1_Missense_Mutation_p.V734G|COL6A3_ENST00000472056.1_Missense_Mutation_p.V333G|COL6A3_ENST00000346358.4_Missense_Mutation_p.V740G|COL6A3_ENST00000392004.3_Missense_Mutation_p.V734G|COL6A3_ENST00000392003.2_Missense_Mutation_p.V533G|COL6A3_ENST00000353578.4_Missense_Mutation_p.V734G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	940	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V940G(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAACTGAAGCACTCCATCCTC	0.552																																																1	Substitution - Missense(1)	ovary(1)	2											120.0	96.0	104.0					2																	238285666		2203	4300	6503	237950405	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2819T>G	2.37:g.238285666A>C	ENSP00000295550:p.Val940Gly		237950405	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.076832	0.55753	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.55	5.55	0.83447	von Willebrand factor, type A (3);	0.151263	0.30920	N	0.008604	T	0.71178	0.3309	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D	0.85130	0.974;0.997;0.994;0.994;0.994;0.964	T	0.78173	-0.2307	10	0.72032	D	0.01	.	15.6886	0.77430	1.0:0.0:0.0:0.0	.	740;333;533;734;734;940	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	G	940;739;734;333;734;740;734;533	ENSP00000295550:V940G;ENSP00000315609:V739G;ENSP00000315873:V734G;ENSP00000418285:V333G;ENSP00000386844:V734G;ENSP00000295546:V740G;ENSP00000375861:V734G;ENSP00000375860:V533G	ENSP00000295550:V940G	V	-	2	0	COL6A3	237950405	1.000000	0.71417	0.562000	0.28370	0.246000	0.25737	6.223000	0.72257	2.110000	0.64415	0.533000	0.62120	GTG		0.552	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
CRISPLD1	83690	hgsc.bcm.edu	37	8	75924704	75924704	+	Missense_Mutation	SNP	T	T	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr8:75924704T>A	ENST00000262207.4	+	3	763	c.295T>A	c.(295-297)Tgg>Agg	p.W99R	CRISPLD1_ENST00000519798.1_3'UTR|CRISPLD1_ENST00000523524.1_5'UTR|CRISPLD1_ENST00000517786.1_5'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	99	SCP.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.W99R(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TGCAGAATCCTGGGCTGAAAG	0.443																																																1	Substitution - Missense(1)	ovary(1)	8											161.0	147.0	152.0					8																	75924704		2203	4300	6503	76087259	SO:0001583	missense	83690			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.295T>A	8.37:g.75924704T>A	ENSP00000262207:p.Trp99Arg		76087259	B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.206239	0.79127	.	.	ENSG00000121005	ENST00000262207;ENST00000520277	T;T	0.07800	3.16;3.16	5.21	5.21	0.72293	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	M	0.89658	3.05	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.43278	-0.9401	10	0.87932	D	0	.	15.2557	0.73582	0.0:0.0:0.0:1.0	.	99	Q9H336	CRLD1_HUMAN	R	99	ENSP00000262207:W99R;ENSP00000430504:W99R	ENSP00000262207:W99R	W	+	1	0	CRISPLD1	76087259	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.470000	0.80973	2.184000	0.69523	0.455000	0.32223	TGG		0.443	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461	
CSRNP3	80034	hgsc.bcm.edu	37	2	166535715	166535715	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr2:166535715G>C	ENST00000342316.4	+	5	1482	c.1210G>C	c.(1210-1212)Gtc>Ctc	p.V404L	CSRNP3_ENST00000314499.7_Missense_Mutation_p.V404L|CSRNP3_ENST00000409420.1_Missense_Mutation_p.V436L	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	404					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V404L(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGCCGAAGTTGTCCCTCTTCC	0.483																																																1	Substitution - Missense(1)	ovary(1)	2											128.0	122.0	124.0					2																	166535715		2203	4300	6503	166243961	SO:0001583	missense	80034			AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1210G>C	2.37:g.166535715G>C	ENSP00000344042:p.Val404Leu		166243961	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062535	0.36373	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.79	5.79	0.91817	.	0.184751	0.47455	D	0.000238	T	0.36358	0.0964	L	0.34521	1.04	0.38146	D	0.9386	B	0.28291	0.206	B	0.24394	0.053	T	0.25152	-1.0140	10	0.30854	T	0.27	-17.052	13.2534	0.60064	0.0723:0.0:0.9277:0.0	.	404	Q8WYN3	CSRN3_HUMAN	L	404;411;404;404;436	ENSP00000412081:V404L;ENSP00000318258:V404L;ENSP00000344042:V404L;ENSP00000387195:V436L	ENSP00000318258:V404L	V	+	1	0	CSRNP3	166243961	1.000000	0.71417	0.915000	0.36163	0.993000	0.82548	6.248000	0.72418	2.735000	0.93741	0.655000	0.94253	GTC		0.483	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969	
DMTF1	9988	hgsc.bcm.edu	37	7	86800370	86800370	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr7:86800370G>A	ENST00000394703.5	+	7	855	c.292G>A	c.(292-294)Gat>Aat	p.D98N	DMTF1_ENST00000432937.2_Missense_Mutation_p.D10N|DMTF1_ENST00000413276.2_Missense_Mutation_p.D98N|DMTF1_ENST00000331242.7_Missense_Mutation_p.D98N|DMTF1_ENST00000394702.3_Missense_Mutation_p.D98N|DMTF1_ENST00000414194.2_De_novo_Start_InFrame|DMTF1_ENST00000411766.2_Missense_Mutation_p.D57N	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	98	Interaction with CCND2. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.|Required for transcriptional activation. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D98N(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AGTAGCAGATGATGAGGTTAC	0.403																																																1	Substitution - Missense(1)	ovary(1)	7											119.0	105.0	110.0					7																	86800370		2203	4300	6503	86638306	SO:0001583	missense	9988			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.292G>A	7.37:g.86800370G>A	ENSP00000378193:p.Asp98Asn		86638306	B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	35	5.503297	0.96371	.	.	ENSG00000135164	ENST00000331242;ENST00000394702;ENST00000413276;ENST00000447863;ENST00000425406;ENST00000411766;ENST00000420131;ENST00000449088;ENST00000430405;ENST00000432937;ENST00000394703;ENST00000412139;ENST00000425705	T;T;T;T	0.54071	0.59;0.72;0.62;0.59	5.39	5.39	0.77823	.	0.140814	0.64402	D	0.000006	T	0.48484	0.1502	L	0.40543	1.245	0.80722	D	1	B	0.11235	0.004	B	0.11329	0.006	T	0.41305	-0.9516	10	0.56958	D	0.05	-8.4057	18.5024	0.90887	0.0:0.0:1.0:0.0	.	98	Q9Y222	DMTF1_HUMAN	N	98;98;98;98;57;57;10;98;98;10;98;98;98	ENSP00000332171:D98N;ENSP00000402627:D98N;ENSP00000412532:D10N;ENSP00000378193:D98N	ENSP00000332171:D98N	D	+	1	0	DMTF1	86638306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.352000	0.59404	2.690000	0.91761	0.655000	0.94253	GAT		0.403	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145	
CUX1	1523	hgsc.bcm.edu	37	7	101843372	101843372	+	Missense_Mutation	SNP	G	G	T			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr7:101843372G>T	ENST00000292535.7	+	17	2020	c.1982G>T	c.(1981-1983)cGa>cTa	p.R661L	CUX1_ENST00000550008.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R559L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.R672L|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.R639L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	661					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.R661L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ACCCGGATCCGAGCCTCGGAG	0.527																																																1	Substitution - Missense(1)	ovary(1)	7											97.0	98.0	98.0					7																	101843372		2203	4300	6503	101630092	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1982G>T	7.37:g.101843372G>T	ENSP00000292535:p.Arg661Leu		101630092	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948668	0.92660	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000546411	T;T;T;T	0.70986	-0.5;-0.48;-0.33;-0.53	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.85013	0.5600	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.72075	0.947;0.976	D	0.84793	0.0780	10	0.52906	T	0.07	-8.1039	19.9961	0.97386	0.0:0.0:1.0:0.0	.	661;672	P39880;P39880-3	CUX1_HUMAN;.	L	672;661;639;559	ENSP00000353401:R672L;ENSP00000292535:R661L;ENSP00000446630:R639L;ENSP00000450125:R559L	ENSP00000292535:R661L	R	+	2	0	CUX1	101630092	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	8.058000	0.89460	2.744000	0.94065	0.561000	0.74099	CGA		0.527	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913	
EIF4A2	1974	hgsc.bcm.edu	37	3	186501407	186501407	+	Missense_Mutation	SNP	G	G	T			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr3:186501407G>T	ENST00000323963.5	+	1	72	c.8G>T	c.(7-9)gGt>gTt	p.G3V	RP11-573D15.9_ENST00000577781.1_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.G3V|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_5'UTR			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	3					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.G3V(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		ATCATGTCTGGTGGCTCCGCG	0.577			T	BCL6	NHL																																		Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	1	Substitution - Missense(1)	ovary(1)	3											142.0	144.0	143.0					3																	186501407		2203	4300	6503	187984101	SO:0001583	missense	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.8G>T	3.37:g.186501407G>T	ENSP00000326381:p.Gly3Val		187984101	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267105	0.59540	.	.	ENSG00000156976	ENST00000441007;ENST00000445596;ENST00000323963;ENST00000440191	T;T;T	0.31769	1.48;1.68;1.68	4.48	3.6	0.41247	.	0.632453	0.16522	N	0.210774	T	0.21921	0.0528	L	0.29908	0.895	0.80722	D	1	B;B	0.27559	0.009;0.181	B;B	0.20577	0.023;0.03	T	0.05632	-1.0873	10	0.54805	T	0.06	-22.682	10.463	0.44592	0.0969:0.0:0.9031:0.0	.	3;3	Q14240-2;Q14240	.;IF4A2_HUMAN	V	3	ENSP00000415878:G3V;ENSP00000326381:G3V;ENSP00000398370:G3V	ENSP00000326381:G3V	G	+	2	0	EIF4A2	187984101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.820000	0.92003	1.224000	0.43551	0.563000	0.77884	GGT		0.577	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967	
GAB2	9846	hgsc.bcm.edu	37	11	77937889	77937889	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr11:77937889G>A	ENST00000361507.4	-	4	914	c.829C>T	c.(829-831)Cac>Tac	p.H277Y	GAB2_ENST00000340149.2_Missense_Mutation_p.H239Y|GAB2_ENST00000526030.1_5'Flank	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	277					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.H277Y(1)	INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CCCTTGGTGTGGCCATGGGAG	0.582																																																1	Substitution - Missense(1)	ovary(1)	11											81.0	70.0	74.0					11																	77937889		2200	4292	6492	77615537	SO:0001583	missense	9846			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.829C>T	11.37:g.77937889G>A	ENSP00000354952:p.His277Tyr		77615537	A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	4.032	0.003541	0.07866	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.16597	2.33;2.33	5.69	5.69	0.88448	.	0.422095	0.21568	U	0.072447	T	0.16385	0.0394	L	0.50333	1.59	0.19300	N	0.99998	B	0.32620	0.378	B	0.28011	0.085	T	0.43540	-0.9385	10	0.02654	T	1	-7.3622	19.8182	0.96579	0.0:0.0:1.0:0.0	.	277	Q9UQC2	GAB2_HUMAN	Y	239;277	ENSP00000343959:H239Y;ENSP00000354952:H277Y	ENSP00000343959:H239Y	H	-	1	0	GAB2	77615537	1.000000	0.71417	0.988000	0.46212	0.305000	0.27757	6.600000	0.74132	2.700000	0.92200	0.561000	0.74099	CAC		0.582	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491	
MYH11	4629	hgsc.bcm.edu	37	16	15869985	15869985	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr16:15869985G>C	ENST00000300036.5	-	8	948	c.839C>G	c.(838-840)aCa>aGa	p.T280R	MYH11_ENST00000576790.2_Missense_Mutation_p.T280R|MYH11_ENST00000452625.2_Missense_Mutation_p.T287R|MYH11_ENST00000396324.3_Missense_Mutation_p.T287R	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	280	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.T280R(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GATGTGGAATGTCCTCTCGTC	0.483			T	CBFB	AML																																		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	1	Substitution - Missense(1)	ovary(1)	16											346.0	308.0	321.0					16																	15869985		2197	4300	6497	15777486	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.839C>G	16.37:g.15869985G>C	ENSP00000300036:p.Thr280Arg		15777486	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134336	0.77662	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.91	5.91	0.95273	Myosin head, motor domain (2);	0.060749	0.64402	D	0.000003	T	0.80025	0.4548	M	0.87269	2.87	0.80722	D	1	B;B;B;B;B	0.25048	0.022;0.117;0.117;0.117;0.117	B;B;B;B;B	0.34722	0.188;0.123;0.123;0.123;0.123	T	0.78966	-0.1995	10	0.87932	D	0	.	18.8584	0.92262	0.0:0.0:1.0:0.0	.	287;280;287;280;287	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	R	280;280;287;287;287	ENSP00000300036:T280R;ENSP00000345136:T280R;ENSP00000379616:T287R;ENSP00000407821:T287R	ENSP00000300036:T280R	T	-	2	0	MYH11	15777486	1.000000	0.71417	0.982000	0.44146	0.939000	0.58152	9.497000	0.97970	2.804000	0.96469	0.462000	0.41574	ACA		0.483	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
NCKAP1L	3071	hgsc.bcm.edu	37	12	54893248	54893248	+	Splice_Site	SNP	C	C	T	rs537538241		TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr12:54893248C>T	ENST00000293373.6	+	2	291	c.212C>T	c.(211-213)aCg>aTg	p.T71M	NCKAP1L_ENST00000545638.2_Splice_Site_p.T21M|RP11-753H16.3_ENST00000550474.1_RNA	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	71					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.T71M(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CGAAACAGCACGGTGAGAACT	0.428																																																1	Substitution - Missense(1)	ovary(1)	12											105.0	98.0	101.0					12																	54893248		2203	4300	6503	53179515	SO:0001630	splice_region_variant	3071			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.213+1C>T	12.37:g.54893248C>T			53179515	B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389042	0.61956	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.32753	1.45;1.44	5.33	5.33	0.75918	.	0.118857	0.56097	D	0.000026	T	0.37100	0.0991	L	0.33485	1.01	0.31306	N	0.687712	D	0.64830	0.994	P	0.53954	0.738	T	0.27262	-1.0079	10	0.37606	T	0.19	-5.3553	16.5294	0.84354	0.0:1.0:0.0:0.0	.	71	P55160	NCKPL_HUMAN	M	71;21	ENSP00000293373:T71M;ENSP00000445596:T21M	ENSP00000293373:T71M	T	+	2	0	NCKAP1L	53179515	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.199000	0.42715	2.500000	0.84329	0.467000	0.42956	ACG		0.428	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	Missense_Mutation
PTCHD1	139411	hgsc.bcm.edu	37	X	23397858	23397858	+	Silent	SNP	C	C	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chrX:23397858C>A	ENST00000379361.4	+	2	1362	c.502C>A	c.(502-504)Cgg>Agg	p.R168R		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	168					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.R63R(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GGCCACCAATCGGACCAATTT	0.488																																																1	Substitution - coding silent(1)	ovary(1)	X											100.0	86.0	90.0					X																	23397858		2203	4300	6503	23307779	SO:0001819	synonymous_variant	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.502C>A	X.37:g.23397858C>A			23307779	B4DQH0|Q0IJ60|Q6P6B8	Silent	SNP	ENST00000379361.4	37	CCDS35215.2																																																																																				0.488	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495	
RBPJ	3516	hgsc.bcm.edu	37	4	26432338	26432338	+	Silent	SNP	C	C	T	rs1064380		TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr4:26432338C>T	ENST00000361572.6	+	11	1406	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	RBPJ_ENST00000345843.3_Silent_p.V389V|RBPJ_ENST00000355476.3_Silent_p.V390V|RBPJ_ENST00000348160.4_Silent_p.V391V|RBPJ_ENST00000504907.1_Missense_Mutation_p.R356C|RBPJ_ENST00000342295.1_Silent_p.V404V|RBPJ_ENST00000507561.1_Silent_p.V369V|RBPJ_ENST00000342320.4_Silent_p.V390V			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	404	IPT/TIG.				angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V390V(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TGCTCTGTGTCGTCCCAGACA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	4						C	,,,	0,4406		0,0,2203	78.0	78.0	78.0		1212,1173,1167,1170	-3.1	1.0	4	dbSNP_86	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RBPJ	NM_005349.2,NM_015874.3,NM_203283.1,NM_203284.1	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	404/501,391/488,389/486,390/487	26432338	1,13005	2203	4300	6503	26041436	SO:0001819	synonymous_variant	3516			L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.1212C>T	4.37:g.26432338C>T			26041436	B4DY22|Q5XKH9|Q6P1N3	Silent	SNP	ENST00000361572.6	37	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318441	0.40996	0.0	1.16E-4	ENSG00000168214	ENST00000504907	T	0.58940	0.3	5.51	-3.09	0.05331	.	.	.	.	.	T	0.38665	0.1049	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04930	-1.0917	8	0.38643	T	0.18	-9.6117	6.463	0.21966	0.0:0.3682:0.2408:0.3911	rs1064380	356	D6R927	.	C	356	ENSP00000423703:R356C	ENSP00000423703:R356C	R	+	1	0	RBPJ	26041436	0.068000	0.21057	0.989000	0.46669	0.999000	0.98932	-0.821000	0.04452	-0.505000	0.06568	0.655000	0.94253	CGT		0.418	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874	
SPOP	8405	hgsc.bcm.edu	37	17	47684704	47684704	+	Nonsense_Mutation	SNP	C	C	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr17:47684704C>A	ENST00000393328.2	-	9	1110	c.745G>T	c.(745-747)Gaa>Taa	p.E249*	SPOP_ENST00000503676.1_Nonsense_Mutation_p.E249*|SPOP_ENST00000393331.3_Nonsense_Mutation_p.E249*|SPOP_ENST00000347630.2_Nonsense_Mutation_p.E249*|SPOP_ENST00000504102.1_Nonsense_Mutation_p.E249*	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	249	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.E249*(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTAAAAACTTCAGGCTCCACA	0.388										Prostate(2;0.17)																																						1	Substitution - Nonsense(1)	ovary(1)	17											103.0	96.0	99.0					17																	47684704		2203	4300	6503	45039703	SO:0001587	stop_gained	8405			AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.745G>T	17.37:g.47684704C>A	ENSP00000377001:p.Glu249*		45039703	B2R6S3|D3DTW7|Q53HJ1	Nonsense_Mutation	SNP	ENST00000393328.2	37	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	40	8.388393	0.98789	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079	.	.	.	5.43	5.43	0.79202	.	0.049005	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-6.4069	19.0206	0.92912	0.0:1.0:0.0:0.0	.	.	.	.	X	249;249;249;249;133;249;202;249	.	ENSP00000240327:E249X	E	-	1	0	SPOP	45039703	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.824000	0.97209	0.655000	0.94253	GAA		0.388	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563	
ST18	9705	hgsc.bcm.edu	37	8	53025885	53025885	+	Missense_Mutation	SNP	T	T	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr8:53025885T>A	ENST00000276480.7	-	26	3700	c.3017A>T	c.(3016-3018)gAg>gTg	p.E1006V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	1006					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E1006V(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AAAATTCTGCTCACTGATAGG	0.433																																																1	Substitution - Missense(1)	ovary(1)	8											125.0	109.0	115.0					8																	53025885		2203	4300	6503	53188438	SO:0001583	missense	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.3017A>T	8.37:g.53025885T>A	ENSP00000276480:p.Glu1006Val		53188438	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.968110	0.92855	.	.	ENSG00000147488	ENST00000276480	T	0.54675	0.56	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.71736	0.3375	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74500	-0.3645	10	0.87932	D	0	-25.6995	16.4416	0.83903	0.0:0.0:0.0:1.0	.	1006	O60284	ST18_HUMAN	V	1006	ENSP00000276480:E1006V	ENSP00000276480:E1006V	E	-	2	0	ST18	53188438	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.285000	0.76669	0.477000	0.44152	GAG		0.433	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
TLR8	51311	hgsc.bcm.edu	37	X	12939056	12939056	+	Missense_Mutation	SNP	T	T	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chrX:12939056T>A	ENST00000218032.6	+	2	1984	c.1897T>A	c.(1897-1899)Tcc>Acc	p.S633T	TLR8_ENST00000311912.5_Missense_Mutation_p.S651T	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	633					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.S651T(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CAGGTATATCTCCATTTTCAA	0.403																																																1	Substitution - Missense(1)	ovary(1)	X											60.0	59.0	60.0					X																	12939056		2202	4298	6500	12848977	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1897T>A	X.37:g.12939056T>A	ENSP00000218032:p.Ser633Thr		12848977	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	T	3.869	-0.028328	0.07589	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.80214	-1.35;-1.35	5.82	-11.6	0.00059	.	1.256240	0.06147	N	0.673473	T	0.58438	0.2122	L	0.29908	0.895	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.003	T	0.46638	-0.9177	10	0.49607	T	0.09	.	0.3231	0.00306	0.3073:0.1443:0.206:0.3424	.	633;651	Q9NR97;D1CS70	TLR8_HUMAN;.	T	633;651	ENSP00000218032:S633T;ENSP00000312082:S651T	ENSP00000218032:S633T	S	+	1	0	TLR8	12848977	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.852000	0.04308	-1.861000	0.01153	0.486000	0.48141	TCC		0.403	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610	
BAI3	577	hgsc.bcm.edu	37	6	69666030	69666030	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr6:69666030G>A	ENST00000370598.1	+	7	2131	c.1310G>A	c.(1309-1311)tGc>tAc	p.C437Y		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	437	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C437Y(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGCTCCGAATGCAGAGGGCCA	0.552																																																1	Substitution - Missense(1)	ovary(1)	6											69.0	62.0	65.0					6																	69666030		2203	4300	6503	69722751	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1310G>A	6.37:g.69666030G>A	ENSP00000359630:p.Cys437Tyr		69722751	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766970	0.90020	.	.	ENSG00000135298	ENST00000370598	T	0.69306	-0.39	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.89708	0.6793	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93439	0.6792	10	0.72032	D	0.01	.	19.8472	0.96713	0.0:0.0:1.0:0.0	.	437	O60242	BAI3_HUMAN	Y	437	ENSP00000359630:C437Y	ENSP00000359630:C437Y	C	+	2	0	BAI3	69722751	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	9.623000	0.98386	2.701000	0.92244	0.591000	0.81541	TGC		0.552	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
LATS2	26524	hgsc.bcm.edu	37	13	21619951	21619951	+	Missense_Mutation	SNP	G	G	A	rs560006986		TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr13:21619951G>A	ENST00000382592.4	-	2	620	c.215C>T	c.(214-216)cCt>cTt	p.P72L	LATS2_ENST00000542899.1_Missense_Mutation_p.P72L	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.P72L(1)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTTCTGATAAGGTCCGAACTT	0.527																																																1	Substitution - Missense(1)	ovary(1)	13											116.0	102.0	107.0					13																	21619951		2203	4300	6503	20517951	SO:0001583	missense	26524			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.215C>T	13.37:g.21619951G>A	ENSP00000372035:p.Pro72Leu		20517951		Missense_Mutation	SNP	ENST00000382592.4	37	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308477	0.81247	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.24723	1.84;1.84	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000002	T	0.44644	0.1303	M	0.62723	1.935	0.52099	D	0.999949	D	0.71674	0.998	P	0.56343	0.796	T	0.12578	-1.0542	10	0.37606	T	0.19	.	19.7236	0.96153	0.0:0.0:1.0:0.0	.	72	Q9NRM7	LATS2_HUMAN	L	72	ENSP00000372035:P72L;ENSP00000441817:P72L	ENSP00000372035:P72L	P	-	2	0	LATS2	20517951	1.000000	0.71417	0.882000	0.34594	0.850000	0.48378	6.901000	0.75693	2.730000	0.93505	0.655000	0.94253	CCT		0.527	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1		
TMPRSS6	164656	hgsc.bcm.edu	37	22	37494472	37494472	+	Missense_Mutation	SNP	G	G	T	rs376849230		TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr22:37494472G>T	ENST00000346753.3	-	3	463	c.347C>A	c.(346-348)gCc>gAc	p.A116D	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.A107D|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.A116D|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A107D|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A107D	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	116	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.			A -> V (in Ref. 1; CAC85953). {ECO:0000305}.	angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.A116D(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGGGCTTTGGCGGTTTCACT	0.562																																																1	Substitution - Missense(1)	ovary(1)	22											297.0	295.0	296.0					22																	37494472		2203	4300	6503	35824418	SO:0001583	missense	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.347C>A	22.37:g.37494472G>T	ENSP00000334962:p.Ala116Asp		35824418	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122476	0.37436	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11	4.97	3.94	0.45596	SEA (1);	0.216559	0.41194	D	0.000935	T	0.46541	0.1398	L	0.29908	0.895	0.38521	D	0.948727	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.69824	0.951;0.943;0.966	T	0.45512	-0.9256	10	0.45353	T	0.12	.	8.4549	0.32893	0.0863:0.1526:0.7611:0.0	.	116;107;116	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	D	107;116;107;107;116;107	ENSP00000371211:A107D;ENSP00000334962:A116D;ENSP00000385453:A107D;ENSP00000384964:A107D;ENSP00000397691:A116D;ENSP00000400317:A107D	ENSP00000334962:A116D	A	-	2	0	TMPRSS6	35824418	0.995000	0.38212	0.987000	0.45799	0.934000	0.57294	1.948000	0.40303	2.293000	0.77203	0.561000	0.74099	GCC		0.562	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609	
