#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_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCA6	23460	genome.wustl.edu	37	17	67081186	67081186	+	Silent	SNP	C	C	T			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr17:67081186C>T	ENST00000284425.2	-	32	4341	c.4167G>A	c.(4165-4167)gcG>gcA	p.A1389A	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1389	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGGCGAGCCTCGCGTCCGCTT	0.552																																						dbGAP											0													66.0	47.0	53.0					17																	67081186		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4167G>A	17.37:g.67081186C>T			Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A1389	ENST00000284425.2	37	c.4167	CCDS11683.1	17																																																																																			ABCA6	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154262		0.552	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	19	0.00	0	C	NM_080284		67081186	67081186	-1	no_errors	ENST00000284425	ensembl	human	known	69_37n	silent	15	34.78	8	SNP	0.000	T
BEND4	389206	genome.wustl.edu	37	4	42145871	42145871	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr4:42145871C>A	ENST00000502486.1	-	3	1207	c.628G>T	c.(628-630)Gaa>Taa	p.E210*	BEND4_ENST00000504360.1_Nonsense_Mutation_p.E206*	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	210								p.E206K(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TCCTGTCTTTCGTTGTAACTT	0.443																																						dbGAP											1	Substitution - Missense(1)	NS(1)											92.0	91.0	91.0					4																	42145871		1923	4148	6071	-	-	-	SO:0001587	stop_gained	0			AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.628G>T	4.37:g.42145871C>A	ENSP00000421169:p.Glu210*		A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Nonsense_Mutation	SNP	pfam_BEN_domain	p.E210*	ENST00000502486.1	37	c.628	CCDS47048.1	4	.	.	.	.	.	.	.	.	.	.	C	39	7.840606	0.98519	.	.	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.72	5.72	0.89469	.	0.116572	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-12.0648	19.8965	0.96963	0.0:1.0:0.0:0.0	.	.	.	.	X	81;210;206	.	ENSP00000412495:E81X	E	-	1	0	BEND4	41840628	1.000000	0.71417	0.944000	0.38274	0.093000	0.18481	7.378000	0.79679	2.717000	0.92951	0.655000	0.94253	GAA	BEND4	-	NULL	ENSG00000188848		0.443	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND4	HGNC	protein_coding	OTTHUMT00000360975.2	107	0.00	0	C	NM_207406		42145871	42145871	-1	no_errors	ENST00000502486	ensembl	human	known	69_37n	nonsense	54	20.59	14	SNP	0.996	A
DTX2	113878	genome.wustl.edu	37	7	76126735	76126735	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr7:76126735C>T	ENST00000324432.5	+	7	1601	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F	DTX2_ENST00000446820.2_Intron|DTX2_ENST00000446600.1_Missense_Mutation_p.S273F|DTX2_ENST00000430490.2_Missense_Mutation_p.S364F|DTX2_ENST00000413936.2_Missense_Mutation_p.S364F|DTX2_ENST00000307569.8_Intron	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	364					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CCTCCCGCCTCCCGTCTGGCT	0.557																																						dbGAP											0													34.0	34.0	34.0					7																	76126735		2199	4273	6472	-	-	-	SO:0001583	missense	0				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1091C>T	7.37:g.76126735C>T	ENSP00000322885:p.Ser364Phe		Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.S364F	ENST00000324432.5	37	c.1091	CCDS5587.1	7	.	.	.	.	.	.	.	.	.	.	.	22.6	4.304917	0.81247	.	.	ENSG00000091073	ENST00000324432;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.41	5.41	0.78517	.	0.488189	0.22236	N	0.062754	T	0.33673	0.0871	M	0.63843	1.955	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.967	D;P;P	0.72075	0.976;0.77;0.779	T	0.01352	-1.1377	10	0.87932	D	0	-43.9425	13.1269	0.59360	0.1602:0.8398:0.0:0.0	.	273;273;364	F5GX89;E7ET89;Q86UW9	.;.;DTX2_HUMAN	F	364;273;273;364;364	ENSP00000322885:S364F;ENSP00000397648:S273F;ENSP00000390218:S364F;ENSP00000411986:S364F	ENSP00000322885:S364F	S	+	2	0	AC005522.1	75964671	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.200000	0.51051	2.704000	0.92352	0.655000	0.94253	TCC	DTX2	-	NULL	ENSG00000091073		0.557	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	Clone_based_vega_gene	protein_coding	OTTHUMT00000253104.2	91	0.00	0	C			76126735	76126735	+1	no_errors	ENST00000324432	ensembl	human	known	69_37n	missense	73	12.05	10	SNP	1.000	T
F8	2157	genome.wustl.edu	37	X	154133122	154133122	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chrX:154133122G>C	ENST00000360256.4	-	16	5750	c.5550C>G	c.(5548-5550)gaC>gaG	p.D1850E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1850	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGGCTTTGCAGTCAAACTCAT	0.393																																						dbGAP											0													130.0	106.0	114.0					X																	154133122		2203	4300	6503	-	-	-	SO:0001583	missense	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5550C>G	X.37:g.154133122G>C	ENSP00000353393:p.Asp1850Glu		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.D1850E	ENST00000360256.4	37	c.5550	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994334	0.54041	.	.	ENSG00000185010	ENST00000360256	D	0.97924	-4.61	4.91	4.05	0.47172	Cupredoxin (2);	0.268702	0.41194	D	0.000940	D	0.96454	0.8843	L	0.44542	1.39	0.47621	D	0.999478	P	0.45044	0.849	P	0.55391	0.775	D	0.93439	0.6792	10	0.16420	T	0.52	-21.6437	7.5732	0.27920	0.0932:0.1619:0.745:0.0	.	1850	P00451	FA8_HUMAN	E	1850	ENSP00000353393:D1850E	ENSP00000353393:D1850E	D	-	3	2	F8	153786316	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.418000	0.59828	0.991000	0.38814	0.506000	0.49869	GAC	F8	-	superfamily_Cupredoxin	ENSG00000185010		0.393	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	118	0.00	0	G			154133122	154133122	-1	no_errors	ENST00000360256	ensembl	human	known	69_37n	missense	121	19.33	29	SNP	1.000	C
FBXL5	26234	genome.wustl.edu	37	4	15629638	15629638	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr4:15629638G>A	ENST00000341285.3	-	7	1035	c.911C>T	c.(910-912)tCa>tTa	p.S304L	FBXL5_ENST00000412094.2_Missense_Mutation_p.S287L|FBXL5_ENST00000382358.4_Missense_Mutation_p.S178L	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	304					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						GATAGCAATTGATTCCTCCGC	0.333																																						dbGAP											0													109.0	99.0	102.0					4																	15629638		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.911C>T	4.37:g.15629638G>A	ENSP00000344866:p.Ser304Leu		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.S304L	ENST00000341285.3	37	c.911	CCDS3415.1	4	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335920	0.60853	.	.	ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358	T;T;T	0.35605	1.3;1.36;1.34	5.49	4.65	0.58169	.	0.269234	0.38111	N	0.001808	T	0.37293	0.0998	L	0.50333	1.59	0.48395	D	0.999644	P;P	0.51933	0.949;0.915	P;B	0.44811	0.461;0.272	T	0.29882	-0.9997	10	0.72032	D	0.01	-8.3314	12.7912	0.57534	0.0763:0.0:0.9237:0.0	.	287;304	Q9UKA1-2;Q9UKA1	.;FBXL5_HUMAN	L	304;287;178	ENSP00000344866:S304L;ENSP00000408679:S287L;ENSP00000371795:S178L	ENSP00000344866:S304L	S	-	2	0	FBXL5	15238736	1.000000	0.71417	0.998000	0.56505	0.722000	0.41435	4.809000	0.62591	1.316000	0.45131	0.305000	0.20034	TCA	FBXL5	-	NULL	ENSG00000118564		0.333	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL5	HGNC	protein_coding	OTTHUMT00000214235.2	97	0.00	0	G			15629638	15629638	-1	no_errors	ENST00000341285	ensembl	human	known	69_37n	missense	79	19.39	19	SNP	1.000	A
FAT4	79633	genome.wustl.edu	37	4	126336088	126336088	+	Silent	SNP	G	G	A			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr4:126336088G>A	ENST00000394329.3	+	5	5983	c.5970G>A	c.(5968-5970)ggG>ggA	p.G1990G	FAT4_ENST00000335110.5_Silent_p.G288G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1990	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATAGCCTTGGGCAGTTTACTG	0.393																																						dbGAP											0													103.0	108.0	106.0					4																	126336088		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5970G>A	4.37:g.126336088G>A			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G1990	ENST00000394329.3	37	c.5970	CCDS3732.3	4																																																																																			FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	62	0.00	0	G	NM_024582		126336088	126336088	+1	no_errors	ENST00000394329	ensembl	human	known	69_37n	silent	14	57.58	19	SNP	0.004	A
INSR	3643	genome.wustl.edu	37	19	7141753	7141753	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr19:7141753C>G	ENST00000302850.5	-	13	2759	c.2617G>C	c.(2617-2619)Gag>Cag	p.E873Q	INSR_ENST00000341500.5_Missense_Mutation_p.E861Q	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	873	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCCTTCGGCTCCTGCCACATC	0.527																																						dbGAP											0													166.0	124.0	138.0					19																	7141753		2203	4300	6503	-	-	-	SO:0001583	missense	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2617G>C	19.37:g.7141753C>G	ENSP00000303830:p.Glu873Gln		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.E873Q	ENST00000302850.5	37	c.2617	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038712	0.93630	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.78816	-1.21;-1.21	5.62	5.62	0.85841	Fibronectin, type III (4);	0.000000	0.45361	U	0.000376	D	0.86875	0.6038	M	0.72894	2.215	0.80722	D	1	D;D	0.67145	0.996;0.994	P;D	0.66497	0.892;0.944	D	0.87781	0.2612	10	0.72032	D	0.01	.	17.2257	0.86970	0.0:1.0:0.0:0.0	.	861;873	P06213-2;P06213	.;INSR_HUMAN	Q	873;861	ENSP00000303830:E873Q;ENSP00000342838:E861Q	ENSP00000303830:E873Q	E	-	1	0	INSR	7092753	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.150000	0.77403	2.646000	0.89796	0.644000	0.83932	GAG	INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000171105		0.527	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	96	0.00	0	C			7141753	7141753	-1	no_errors	ENST00000302850	ensembl	human	known	69_37n	missense	77	36.89	45	SNP	1.000	G
IQCC	55721	genome.wustl.edu	37	1	32673075	32673075	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr1:32673075C>G	ENST00000291358.6	+	5	814	c.793C>G	c.(793-795)Caa>Gaa	p.Q265E	IQCC_ENST00000537469.1_Missense_Mutation_p.Q345E|RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA|DCDC2B_ENST00000409358.1_5'Flank	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	265										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGCCACTACACAAAAAAACAT	0.532																																						dbGAP											0													69.0	72.0	71.0					1																	32673075		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.793C>G	1.37:g.32673075C>G	ENSP00000291358:p.Gln265Glu		F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.Q345E	ENST00000291358.6	37	c.1033	CCDS355.1	1	.	.	.	.	.	.	.	.	.	.	C	1.617	-0.522577	0.04141	.	.	ENSG00000160051	ENST00000537469;ENST00000291358	T;T	0.10573	2.86;2.86	3.81	1.82	0.25136	.	0.741259	0.11992	N	0.509704	T	0.06096	0.0158	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.36311	-0.9753	10	0.41790	T	0.15	0.0068	6.1113	0.20102	0.0:0.2612:0.5444:0.1943	.	345;265	F5H7T8;Q4KMZ1	.;IQCC_HUMAN	E	345;265	ENSP00000442291:Q345E;ENSP00000291358:Q265E	ENSP00000291358:Q265E	Q	+	1	0	IQCC	32445662	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.369000	0.20416	0.522000	0.28464	0.491000	0.48974	CAA	IQCC	-	NULL	ENSG00000160051		0.532	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCC	HGNC	protein_coding	OTTHUMT00000015731.3	34	0.00	0	C	NM_018134		32673075	32673075	+1	no_errors	ENST00000537469	ensembl	human	known	69_37n	missense	24	14.29	4	SNP	0.001	G
KCNJ14	3770	genome.wustl.edu	37	19	48967593	48967593	+	Silent	SNP	C	C	T	rs149035039		TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr19:48967593C>T	ENST00000391884.1	+	2	1346	c.870C>T	c.(868-870)gcC>gcT	p.A290A	KCNJ14_ENST00000342291.2_Silent_p.A290A|CTC-273B12.5_ENST00000600650.1_RNA|CTC-273B12.5_ENST00000600529.1_RNA|CTC-273B12.5_ENST00000596497.1_RNA|CTC-273B12.7_ENST00000595676.1_5'Flank|CTC-273B12.6_ENST00000597574.1_lincRNA|CTC-273B12.5_ENST00000593476.1_RNA			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	290					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	TAGGACGTGCCGAGCTGGCCA	0.587																																					NSCLC(148;170 3504 35216)	dbGAP											0													112.0	80.0	91.0					19																	48967593		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.870C>T	19.37:g.48967593C>T				Silent	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2	p.A290	ENST00000391884.1	37	c.870	CCDS12721.1	19																																																																																			KCNJ14	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000182324		0.587	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ14	HGNC	protein_coding	OTTHUMT00000466127.1	98	0.00	0	C	NM_013348		48967593	48967593	+1	no_errors	ENST00000342291	ensembl	human	known	69_37n	silent	95	17.95	21	SNP	0.001	T
MAP3K1	4214	genome.wustl.edu	37	5	56177410	56177411	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr5:56177410_56177411insT	ENST00000399503.3	+	14	2383_2384	c.2383_2384insT	c.(2383-2385)ctgfs	p.L795fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	795					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TAAGAAGCTGCTGTCCCTCTTA	0.347																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2384dupT	5.37:g.56177411_56177411dupT	ENSP00000382423:p.Leu795fs			Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.S796fs	ENST00000399503.3	37	c.2383_2384	CCDS43318.1	5																																																																																			MAP3K1	-	NULL	ENSG00000095015		0.347	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	95	0.00	0	-	XM_042066		56177410	56177411	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	71	32.38	34	INS	1.000:1.000	T
MAP3K1	4214	genome.wustl.edu	37	5	56178459	56178460	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr5:56178459_56178460insA	ENST00000399503.3	+	14	3432_3433	c.3432_3433insA	c.(3433-3435)acafs	p.T1145fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1145					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CTTCAAGTGATACAACAGTAAC	0.396																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3433dupA	5.37:g.56178460_56178460dupA	ENSP00000382423:p.Thr1145fs			Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.T1144fs	ENST00000399503.3	37	c.3432_3433	CCDS43318.1	5																																																																																			MAP3K1	-	NULL	ENSG00000095015		0.396	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	51	0.00	0	-	XM_042066		56178459	56178460	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	44	32.31	21	INS	1.000:1.000	A
MBD6	114785	genome.wustl.edu	37	12	57921444	57921444	+	Splice_Site	SNP	G	G	C			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr12:57921444G>C	ENST00000355673.3	+	8	2592		c.e8+1		MBD6_ENST00000431731.2_Splice_Site	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6							chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGCCTGCTGGGTGAGTCTGAG	0.562																																						dbGAP											0													54.0	62.0	59.0					12																	57921444		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2236+1G>C	12.37:g.57921444G>C			Q8N3M0|Q8NA81|Q96Q00	Splice_Site	SNP	-	e6+1	ENST00000355673.3	37	c.2236+1	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502262	0.44455	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7811	0.69769	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MBD6	56207711	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.231000	0.65327	2.561000	0.86390	0.561000	0.74099	.	MBD6	-	-	ENSG00000166987		0.562	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	33	0.00	0	G		Intron	57921444	57921444	+1	no_errors	ENST00000355673	ensembl	human	known	69_37n	splice_site	10	58.33	14	SNP	1.000	C
PCDHGA5	56110	genome.wustl.edu	37	5	140745887	140745887	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr5:140745887G>A	ENST00000518069.1	+	1	1990	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTTGCCGTGGCCGACAG	0.612																																						dbGAP											0													169.0	184.0	179.0					5																	140745887		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1990G>A	5.37:g.140745887G>A	ENSP00000429834:p.Val664Met		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V664M	ENST00000518069.1	37	c.1990	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	6.321	0.427408	0.11987	.	.	ENSG00000253485	ENST00000518069	T	0.68181	-0.31	4.74	0.219	0.15274	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75874	0.3909	H	0.95539	3.685	0.09310	N	0.999999	P;P	0.52463	0.942;0.953	P;P	0.46940	0.501;0.532	T	0.67573	-0.5636	9	0.66056	D	0.02	.	6.1608	0.20364	0.4374:0.1243:0.4384:0.0	.	664;664	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	M	664	ENSP00000429834:V664M	ENSP00000429834:V664M	V	+	1	0	PCDHGA5	140726071	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.679000	0.05203	-0.203000	0.10251	-0.253000	0.11424	GTG	PCDHGA5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253485		0.612	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	31	0.00	0	G	NM_018918		140745887	140745887	+1	no_errors	ENST00000518069	ensembl	human	known	69_37n	missense	36	20.00	9	SNP	0.097	A
PCNT	5116	genome.wustl.edu	37	21	47808670	47808670	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr21:47808670G>T	ENST00000359568.5	+	18	3585	c.3478G>T	c.(3478-3480)Gac>Tac	p.D1160Y	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1160					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGCCCTCCAGGACGCCCTGCG	0.662																																						dbGAP											0													57.0	59.0	58.0					21																	47808670		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.3478G>T	21.37:g.47808670G>T	ENSP00000352572:p.Asp1160Tyr		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.D1160Y	ENST00000359568.5	37	c.3478	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	9.744	1.165697	0.21538	.	.	ENSG00000160299	ENST00000359568	T	0.01665	4.7	4.57	3.69	0.42338	.	0.000000	0.35235	N	0.003356	T	0.07098	0.0180	M	0.64997	1.995	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.967;0.998	T	0.04855	-1.0922	10	0.66056	D	0.02	.	8.6751	0.34174	0.105:0.0:0.895:0.0	.	1042;1160	O95613-2;O95613	.;PCNT_HUMAN	Y	1160	ENSP00000352572:D1160Y	ENSP00000352572:D1160Y	D	+	1	0	PCNT	46633098	0.794000	0.28838	0.011000	0.14972	0.008000	0.06430	2.744000	0.47450	1.289000	0.44618	-0.136000	0.14681	GAC	PCNT	-	NULL	ENSG00000160299		0.662	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	27	0.00	0	G	NM_006031		47808670	47808670	+1	no_errors	ENST00000359568	ensembl	human	known	69_37n	missense	28	15.15	5	SNP	0.029	T
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	124	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	40	42.03	29	SNP	1.000	A
PRSS35	167681	genome.wustl.edu	37	6	84233305	84233305	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr6:84233305G>A	ENST00000369700.3	+	2	322	c.145G>A	c.(145-147)Gca>Aca	p.A49T	PRSS35_ENST00000536636.1_Missense_Mutation_p.A49T	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	49						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CACCAGCCCCGCATTTGAGGC	0.463																																						dbGAP											0													134.0	132.0	133.0					6																	84233305		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.145G>A	6.37:g.84233305G>A	ENSP00000358714:p.Ala49Thr		A8K7B3|Q9BQP6	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.A49T	ENST00000369700.3	37	c.145	CCDS4999.1	6	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.483468	0.01027	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.42131	0.98;0.98	5.33	-3.81	0.04294	.	1.003210	0.08029	N	0.993230	T	0.03011	0.0089	N	0.01267	-0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34725	-0.9817	10	0.10902	T	0.67	-5.1424	4.7476	0.13045	0.4513:0.0:0.3262:0.2225	.	49	Q8N3Z0	PRS35_HUMAN	T	49	ENSP00000440870:A49T;ENSP00000358714:A49T	ENSP00000358714:A49T	A	+	1	0	PRSS35	84290024	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	0.024000	0.13555	-0.979000	0.03529	-1.456000	0.01031	GCA	PRSS35	-	NULL	ENSG00000146250		0.463	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS35	HGNC	protein_coding	OTTHUMT00000041352.1	99	0.00	0	G	NM_153362		84233305	84233305	+1	no_errors	ENST00000369700	ensembl	human	known	69_37n	missense	47	43.37	36	SNP	0.000	A
SCN2A	6326	genome.wustl.edu	37	2	166152440	166152440	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr2:166152440G>A	ENST00000375437.2	+	2	397	c.107G>A	c.(106-108)aGa>aAa	p.R36K	SCN2A_ENST00000283256.6_Missense_Mutation_p.R36K|SCN2A_ENST00000375427.2_Missense_Mutation_p.R36K|SCN2A_ENST00000357398.3_Missense_Mutation_p.R36K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	36					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAAGCTAAGAGACCCAAACAG	0.468																																						dbGAP											0													100.0	89.0	93.0					2																	166152440		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.107G>A	2.37:g.166152440G>A	ENSP00000364586:p.Arg36Lys		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.R36K	ENST00000375437.2	37	c.107	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	G	4.816	0.151652	0.09185	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.95756	-3.8;-3.73;-3.73;-3.73;-3.73	5.55	4.56	0.56223	.	0.950407	0.08797	N	0.892417	T	0.80696	0.4672	N	0.00873	-1.125	0.44142	D	0.996935	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.76634	-0.2887	10	0.02654	T	1	.	3.5927	0.07994	0.3492:0.0:0.6508:0.0	.	36;36	Q99250-2;Q99250	.;SCN2A_HUMAN	K	36	ENSP00000406454:R36K;ENSP00000364586:R36K;ENSP00000349973:R36K;ENSP00000283256:R36K;ENSP00000364576:R36K	ENSP00000283256:R36K	R	+	2	0	SCN2A	165860686	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.410000	0.59774	2.619000	0.88677	0.655000	0.94253	AGA	SCN2A	-	NULL	ENSG00000136531		0.468	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	96	0.00	0	G	NM_021007		166152440	166152440	+1	no_errors	ENST00000283256	ensembl	human	known	69_37n	missense	40	42.03	29	SNP	1.000	A
SLC25A32	81034	genome.wustl.edu	37	8	104419920	104419920	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr8:104419920G>C	ENST00000297578.4	-	2	413	c.247C>G	c.(247-249)Caa>Gaa	p.Q83E	SLC25A32_ENST00000543107.1_De_novo_Start_InFrame	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	83					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	GTTACTCCTTGATAAAGTCCC	0.383																																						dbGAP											0													155.0	158.0	157.0					8																	104419920		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.247C>G	8.37:g.104419920G>C	ENSP00000297578:p.Gln83Glu		Q96JZ6|Q96SU7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.Q83E	ENST00000297578.4	37	c.247	CCDS6300.1	8	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044772	0.93685	.	.	ENSG00000164933	ENST00000297578;ENST00000424899	T	0.78816	-1.21	6.05	6.05	0.98169	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.82861	0.5129	M	0.85630	2.765	0.80722	D	1	P	0.41188	0.741	B	0.39771	0.309	D	0.85036	0.0920	10	0.72032	D	0.01	-24.5641	20.6013	0.99457	0.0:0.0:1.0:0.0	.	83	Q9H2D1	MFTC_HUMAN	E	83;67	ENSP00000297578:Q83E	ENSP00000297578:Q83E	Q	-	1	0	SLC25A32	104489096	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.335000	0.79234	2.878000	0.98634	0.650000	0.86243	CAA	SLC25A32	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000164933		0.383	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A32	HGNC	protein_coding	OTTHUMT00000380290.2	115	0.00	0	G	NM_030780		104419920	104419920	-1	no_errors	ENST00000297578	ensembl	human	known	69_37n	missense	43	56.12	55	SNP	1.000	C
TBC1D3	729873	genome.wustl.edu	37	17	36340138	36340138	+	Silent	SNP	A	A	G			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr17:36340138A>G	ENST00000354664.4	-	12	1045	c.889T>C	c.(889-891)Ttg>Ctg	p.L297L	TBC1D3_ENST00000519532.1_Silent_p.L275L|TBC1D3_ENST00000537432.1_Silent_p.L297L|TBC1D3_ENST00000339023.4_Intron	NM_001123391.2	NP_001116863.2	Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3	297						plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATCGGCATCAACGCCTGTTCG	0.602																																						dbGAP											0													2.0	2.0	2.0					17																	36340138		491	1095	1586	-	-	-	SO:0001819	synonymous_variant	0				CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487	ENST00000354664.4:c.889T>C	17.37:g.36340138A>G			A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L297	ENST00000354664.4	37	c.889	CCDS45658.1	17																																																																																			TBC1D3	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom	ENSG00000197681		0.602	TBC1D3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D3	HGNC	protein_coding	OTTHUMT00000378681.1	22	0.00	0	A	NM_001123391		36340138	36340138	-1	no_errors	ENST00000354664	ensembl	human	known	69_37n	silent	21	16.00	4	SNP	0.353	G
TIMM44	10469	genome.wustl.edu	37	19	7992179	7992179	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr19:7992179G>A	ENST00000270538.3	-	13	1520	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W	CTD-3193O13.8_ENST00000594308.1_RNA|TIMM44_ENST00000598968.1_5'UTR|CTXN1_ENST00000318978.4_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	418					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TACAGCATCCGCAGCACCTTG	0.677																																						dbGAP											0													51.0	54.0	53.0					19																	7992179		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.1252C>T	19.37:g.7992179G>A	ENSP00000270538:p.Arg418Trp		A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44	p.R418W	ENST00000270538.3	37	c.1252	CCDS12192.1	19	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153778	0.57259	.	.	ENSG00000104980	ENST00000270538	T	0.78246	-1.16	4.42	4.42	0.53409	.	0.052037	0.85682	D	0.000000	T	0.75889	0.3911	M	0.73598	2.24	0.80722	D	1	B	0.32382	0.368	B	0.26517	0.07	T	0.79801	-0.1650	10	0.87932	D	0	-14.7106	14.5936	0.68389	0.0:0.0:1.0:0.0	.	418	O43615	TIM44_HUMAN	W	418	ENSP00000270538:R418W	ENSP00000270538:R418W	R	-	1	2	TIMM44	7898179	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.138000	0.64795	2.285000	0.76669	0.561000	0.74099	CGG	TIMM44	-	pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44	ENSG00000104980		0.677	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	TIMM44	HGNC	protein_coding	OTTHUMT00000461596.3	19	0.00	0	G			7992179	7992179	-1	no_errors	ENST00000270538	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	1.000	A
TMEM242	729515	genome.wustl.edu	37	6	157739784	157739784	+	Intron	SNP	G	G	A			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr6:157739784G>A	ENST00000400788.4	-	3	429				TMEM242_ENST00000367144.4_Silent_p.I119I	NM_018452.4	NP_060922.2	Q9NWH2	TM242_HUMAN	transmembrane protein 242							integral component of membrane (GO:0016021)											TAAACATGTAGATACCAGGGA	0.413																																						dbGAP											0													131.0	138.0	136.0					6																	157739784		1917	4103	6020	-	-	-	SO:0001627	intron_variant	0			AF217510	CCDS43519.1	6q25.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000215712	ENSG00000215712			17206	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 35"""	C6orf35			Standard	NM_018452		Approved	BM033	uc003sih.4	Q9NWH2	OTTHUMG00000015893	ENST00000400788.4:c.327+29C>T	6.37:g.157739784G>A			B9EJD0|Q9NZ88|Q9P094	Silent	SNP	pfam_DUF1358	p.I119	ENST00000400788.4	37	c.357	CCDS43519.1	6																																																																																			TMEM242	-	NULL	ENSG00000215712		0.413	TMEM242-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM242	HGNC	protein_coding	OTTHUMT00000042837.2	52	0.00	0	G			157739784	157739784	-1	no_errors	ENST00000367144	ensembl	human	known	69_37n	silent	22	53.19	25	SNP	0.062	A
TOP2A	7153	genome.wustl.edu	37	17	38556618	38556618	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr17:38556618T>C	ENST00000423485.1	-	23	3001	c.2843A>G	c.(2842-2844)gAg>gGg	p.E948G		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	948					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AGGTGTCTTCTCGGTGCCATT	0.383																																						dbGAP											0													111.0	100.0	103.0					17																	38556618		1862	4092	5954	-	-	-	SO:0001583	missense	0				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.2843A>G	17.37:g.38556618T>C	ENSP00000411532:p.Glu948Gly		B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo	p.E948G	ENST00000423485.1	37	c.2843	CCDS45672.1	17	.	.	.	.	.	.	.	.	.	.	T	16.81	3.224829	0.58668	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.26660	1.72	5.31	5.31	0.75309	DNA topoisomerase, type IIA, subunit A/C-terminal (2);Arginine repressor, C-terminal (1);DNA topoisomerase, type IIA, central (1);	0.096682	0.64402	D	0.000001	T	0.32496	0.0831	M	0.66506	2.035	0.80722	D	1	B	0.12630	0.006	B	0.24006	0.05	T	0.11036	-1.0604	10	0.59425	D	0.04	.	15.556	0.76192	0.0:0.0:0.0:1.0	.	948	P11388	TOP2A_HUMAN	G	948;1028;971;984	ENSP00000411532:E948G	ENSP00000269577:E1028G	E	-	2	0	TOP2A	35810144	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.970000	0.88000	2.146000	0.66826	0.533000	0.62120	GAG	TOP2A	-	pfam_Topo_IIA_A/C,superfamily_Topo_IIA_cen,smart_Topo_IIA_A/C	ENSG00000131747		0.383	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	143	0.00	0	T			38556618	38556618	-1	no_errors	ENST00000423485	ensembl	human	known	69_37n	missense	73	18.89	17	SNP	1.000	C
VCAN	1462	genome.wustl.edu	37	5	82850848	82850848	+	Silent	SNP	C	C	T			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr5:82850848C>T	ENST00000265077.3	+	12	10291	c.9726C>T	c.(9724-9726)ggC>ggT	p.G3242G	VCAN_ENST00000342785.4_Silent_p.G1488G|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Silent_p.G2255G|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Silent_p.G1440G|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Silent_p.G501G	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3242	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GGACTGATGGCAGCACACTGG	0.448																																						dbGAP											0													234.0	190.0	205.0					5																	82850848		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9726C>T	5.37:g.82850848C>T			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.G3242	ENST00000265077.3	37	c.9726	CCDS4060.1	5																																																																																			VCAN	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000038427		0.448	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	171	0.00	0	C	NM_004385		82850848	82850848	+1	no_errors	ENST00000265077	ensembl	human	known	69_37n	silent	100	38.04	62	SNP	0.999	T
ZNF106	64397	genome.wustl.edu	37	15	42713309	42713309	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr15:42713309C>A	ENST00000263805.4	-	17	5724	c.5398G>T	c.(5398-5400)Ggc>Tgc	p.G1800C	ZNF106_ENST00000565380.1_Missense_Mutation_p.G1028C|ZNF106_ENST00000565611.1_Missense_Mutation_p.G985C|ZNF106_ENST00000565660.1_5'Flank	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1800					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGAATACTGCCATCATAACAG	0.418																																						dbGAP											0													136.0	130.0	132.0					15																	42713309		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.5398G>T	15.37:g.42713309C>A	ENSP00000263805:p.Gly1800Cys		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1800C	ENST00000263805.4	37	c.5398	CCDS32208.1	15	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045657	0.93685	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.64991	-0.13	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.048658	0.85682	D	0.000000	T	0.71013	0.3290	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.73685	-0.3905	10	0.72032	D	0.01	-15.2536	19.415	0.94690	0.0:1.0:0.0:0.0	.	1028;1800;1028	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	C	1800;1028	ENSP00000263805:G1800C	ENSP00000263805:G1800C	G	-	1	0	ZFP106	40500601	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.257000	0.78362	2.822000	0.97130	0.563000	0.77884	GGC	ZFP106	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000103994		0.418	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP106	HGNC	protein_coding	OTTHUMT00000422587.1	50	0.00	0	C	NM_022473		42713309	42713309	-1	no_errors	ENST00000263805	ensembl	human	known	69_37n	missense	54	18.18	12	SNP	1.000	A
ZNF814	730051	genome.wustl.edu	37	19	58386210	58386210	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1RD-01A-11D-A159-09	TCGA-E9-A1RD-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	23f7a698-eab1-40f1-926c-c95d4ed8213d	11bfd5bb-d1e6-4fc8-8b2e-c042af5db74c	g.chr19:58386210G>A	ENST00000435989.2	-	3	782	c.548C>T	c.(547-549)tCa>tTa	p.S183L	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	183					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						GAGTAATCCTGACCTGGGCAA	0.522																																						dbGAP											0													68.0	51.0	56.0					19																	58386210		692	1589	2281	-	-	-	SO:0001583	missense	0				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.548C>T	19.37:g.58386210G>A	ENSP00000410545:p.Ser183Leu		A6NF35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S183L	ENST00000435989.2	37	c.548	CCDS46212.1	19	.	.	.	.	.	.	.	.	.	.	.	12.76	2.035635	0.35893	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.07327	3.2	2.56	-1.09	0.09904	.	.	.	.	.	T	0.06645	0.0170	L	0.46614	1.455	0.09310	N	1	P	0.37330	0.59	B	0.30179	0.112	T	0.27191	-1.0081	9	0.48119	T	0.1	.	7.6094	0.28120	0.339:0.0:0.661:0.0	.	183	B7Z6K7	ZN814_HUMAN	L	183	ENSP00000410545:S183L	ENSP00000365378:S183L	S	-	2	0	ZNF814	63078022	.	.	0.001000	0.08648	0.104000	0.19210	.	.	-0.121000	0.11787	0.305000	0.20034	TCA	ZNF814	-	NULL	ENSG00000204514		0.522	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	137	0.00	0	G	XM_001725708		58386210	58386210	-1	no_errors	ENST00000435989	ensembl	human	known	69_37n	missense	91	35.92	51	SNP	0.015	A
