#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABCC5	10057	genome.wustl.edu	37	3	183677527	183677527	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr3:183677527C>T	ENST00000334444.6	-	17	2716	c.2476G>A	c.(2476-2478)Gag>Aag	p.E826K	ABCC5_ENST00000265586.6_Missense_Mutation_p.E826K	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	826					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TTACCTTCCTCTGGCTTTACT	0.343																																						dbGAP											0													158.0	146.0	150.0					3																	183677527		1837	4081	5918	-	-	-	SO:0001583	missense	0			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2476G>A	3.37:g.183677527C>T	ENSP00000333926:p.Glu826Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E826K	ENST00000334444.6	37	c.2476	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	c	10.65	1.409336	0.25378	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	T;T	0.41400	1.0;1.0	5.5	5.5	0.81552	ABC transporter, transmembrane domain, type 1 (1);	0.183429	0.52532	D	0.000073	T	0.25232	0.0613	N	0.12746	0.255	0.49389	D	0.999785	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10989	-1.0606	10	0.06757	T	0.87	-26.064	17.5809	0.87968	0.0:1.0:0.0:0.0	.	826;826	Q86UX3;O15440	.;MRP5_HUMAN	K	826;762;826	ENSP00000333926:E826K;ENSP00000265586:E826K	ENSP00000265586:E826K	E	-	1	0	ABCC5	185160221	1.000000	0.71417	0.999000	0.59377	0.758000	0.43043	5.390000	0.66261	2.591000	0.87537	0.556000	0.70494	GAG	ABCC5	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000114770		0.343	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	283	0.00	0	C	NM_005688		183677527	183677527	-1	no_errors	ENST00000334444	ensembl	human	known	69_37n	missense	212	26.90	78	SNP	1.000	T
APOB	338	genome.wustl.edu	37	2	21226147	21226147	+	Silent	SNP	A	A	G			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr2:21226147A>G	ENST00000233242.1	-	29	12274	c.12147T>C	c.(12145-12147)gaT>gaC	p.D4049D	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4049					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.D4049E(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)					GAGTTTCCTCATCAGATTCCC	0.413																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											219.0	243.0	235.0					2																	21226147		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.12147T>C	2.37:g.21226147A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.D4049	ENST00000233242.1	37	c.12147	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	140	0.00	0	A			21226147	21226147	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	silent	56	34.88	30	SNP	0.018	G
CCDC107	203260	genome.wustl.edu	37	9	35660615	35660615	+	Silent	SNP	G	G	A			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr9:35660615G>A	ENST00000426546.2	+	4	447	c.381G>A	c.(379-381)ctG>ctA	p.L127L	ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000327351.2_Silent_p.L127L|RMRP_ENST00000602361.1_lincRNA|ARHGEF39_ENST00000490970.1_5'Flank|CCDC107_ENST00000378409.3_Silent_p.L127L|ARHGEF39_ENST00000378387.3_3'UTR|CCDC107_ENST00000378407.3_Silent_p.L127L|CCDC107_ENST00000378406.1_Silent_p.L127L|ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000421582.2_3'UTR	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	127						integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGAACAACCTGATGGCCCAGC	0.532																																						dbGAP											0													75.0	80.0	78.0					9																	35660615		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.381G>A	9.37:g.35660615G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Silent	SNP	NULL	p.L127	ENST00000426546.2	37	c.381	CCDS6583.1	9																																																																																			CCDC107	-	NULL	ENSG00000159884		0.532	CCDC107-001	KNOWN	basic|CCDS	protein_coding	CCDC107	HGNC	protein_coding	OTTHUMT00000052325.1	108	0.00	0	G	NM_174923		35660615	35660615	+1	no_errors	ENST00000426546	ensembl	human	known	69_37n	silent	42	41.67	30	SNP	0.999	A
CCDC74B	91409	genome.wustl.edu	37	2	130897469	130897469	+	Silent	SNP	C	C	T			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr2:130897469C>T	ENST00000310463.6	-	7	1139	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	CCDC74B_ENST00000392984.3_Silent_p.K436K|MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000409943.3_Silent_p.K268K	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	334										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CTTACCATTTCTTGGAGAGGC	0.632																																						dbGAP											0													20.0	23.0	22.0					2																	130897469		2198	4274	6472	-	-	-	SO:0001819	synonymous_variant	0				CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.1002G>A	2.37:g.130897469C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NW18	Missense_Mutation	SNP	NULL	p.R232K	ENST00000310463.6	37	c.695	CCDS2155.1	2	.	.	.	.	.	.	.	.	.	.	.	10.32	1.318771	0.23994	.	.	ENSG00000152076	ENST00000409488	.	.	.	3.78	2.88	0.33553	.	.	.	.	.	T	0.54062	0.1835	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50457	-0.8826	4	.	.	.	.	6.5126	0.22230	0.0:0.868:0.0:0.132	.	.	.	.	K	232	.	.	R	-	2	0	CCDC74B	130613939	1.000000	0.71417	0.984000	0.44739	0.043000	0.13939	2.109000	0.41863	2.104000	0.64026	0.450000	0.29827	AGA	CCDC74B	-	NULL	ENSG00000152076		0.632	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74B	HGNC	protein_coding	OTTHUMT00000254522.3	62	0.00	0	C	NM_207310		130897469	130897469	-1	no_errors	ENST00000409488	ensembl	human	novel	69_37n	missense	40	28.57	16	SNP	0.982	T
CDH8	1006	genome.wustl.edu	37	16	61935083	61935083	+	Splice_Site	SNP	C	C	A			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr16:61935083C>A	ENST00000577390.1	-	3	1501	c.547G>T	c.(547-549)Ggt>Tgt	p.G183C	CDH8_ENST00000299345.6_Splice_Site_p.G183C|CDH8_ENST00000577730.1_Splice_Site_p.G183C|CDH8_ENST00000584337.1_Splice_Site_p.G183C	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	183	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.G183C(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCATACATACCCAAAATGGAC	0.358																																						dbGAP											1	Substitution - Missense(1)	liver(1)											89.0	89.0	89.0					16																	61935083		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.547+1G>T	16.37:g.61935083C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G183C	ENST00000577390.1	37	c.547	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958639	0.74016	.	.	ENSG00000150394	ENST00000299345	T	0.69306	-0.39	5.98	5.98	0.97165	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.91188	0.7224	H	0.99659	4.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94475	0.7688	9	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	183	P55286	CADH8_HUMAN	C	183	ENSP00000299345:G183C	.	G	-	1	0	CDH8	60492584	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.738000	0.68613	2.838000	0.97847	0.591000	0.81541	GGT	CDH8	-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin	ENSG00000150394		0.358	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	108	0.00	0	C	NM_001796	Missense_Mutation	61935083	61935083	-1	no_errors	ENST00000577390	ensembl	human	known	69_37n	missense	18	35.71	10	SNP	1.000	A
CDK5RAP1	51654	genome.wustl.edu	37	20	31967344	31967344	+	Silent	SNP	G	G	A			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr20:31967344G>A	ENST00000357886.4	-	9	1225	c.1072C>T	c.(1072-1074)Ctg>Ttg	p.L358L	CDK5RAP1_ENST00000473997.1_Silent_p.L254L|CDK5RAP1_ENST00000544843.1_Silent_p.L344L|CDK5RAP1_ENST00000346416.2_Silent_p.L344L|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000339269.5_Intron			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	358					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						ACCTGATCCAGAAGATGAGCA	0.493																																						dbGAP											0													97.0	100.0	99.0					20																	31967344		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1072C>T	20.37:g.31967344G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Silent	SNP	pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase	p.L358	ENST00000357886.4	37	c.1072		20																																																																																			CDK5RAP1	-	pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase	ENSG00000101391		0.493	CDK5RAP1-011	KNOWN	basic	protein_coding	CDK5RAP1	HGNC	protein_coding	OTTHUMT00000078697.1	89	0.00	0	G	NM_016408		31967344	31967344	-1	no_errors	ENST00000357886	ensembl	human	known	69_37n	silent	43	31.75	20	SNP	1.000	A
CORO6	84940	genome.wustl.edu	37	17	27948283	27948283	+	Frame_Shift_Del	DEL	C	C	-			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr17:27948283delC	ENST00000445145.2	-	1	158	c.157delG	c.(157-159)gctfs	p.A53fs	CORO6_ENST00000580212.1_Frame_Shift_Del_p.A53fs|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000345068.5_Frame_Shift_Del_p.A53fs|CORO6_ENST00000584969.1_Frame_Shift_Del_p.A53fs|CORO6_ENST00000388767.3_Frame_Shift_Del_p.A53fs|RP11-68I3.10_ENST00000582367.1_RNA			Q6QEF8	CORO6_HUMAN	coronin 6	53					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)	p.A53P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CCGCCTCCAGCCTCCACAATA	0.602																																						dbGAP											1	Substitution - Missense(1)	lung(1)											58.0	64.0	62.0					17																	27948283		2173	4287	6460	-	-	-	SO:0001589	frameshift_variant	0			AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.157delG	17.37:g.27948283delC	ENSP00000393624:p.Ala53fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU26|Q71MF3|Q8WYH7|Q96K02	Frame_Shift_Del	DEL	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A53fs	ENST00000445145.2	37	c.157		17																																																																																			CORO6	-	pfam_DUF1899,superfamily_WD40_repeat_dom	ENSG00000167549		0.602	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	CORO6	HGNC	protein_coding	OTTHUMT00000447831.1	62	0.00	0	C	NM_032854		27948283	27948283	-1	no_errors	ENST00000345068	ensembl	human	known	69_37n	frame_shift_del	106	17.56	23	DEL	1.000	-
CPNE8	144402	genome.wustl.edu	37	12	39161456	39161456	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr12:39161456G>A	ENST00000331366.5	-	8	652	c.556C>T	c.(556-558)Cga>Tga	p.R186*	CPNE8_ENST00000360449.3_Nonsense_Mutation_p.R174*	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	186	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TCATTACTTCGATAAAATACA	0.303																																						dbGAP											0													74.0	77.0	76.0					12																	39161456		2203	4297	6500	-	-	-	SO:0001587	stop_gained	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.556C>T	12.37:g.39161456G>A	ENSP00000329748:p.Arg186*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB41|Q86VY2	Nonsense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A	p.R186*	ENST00000331366.5	37	c.556	CCDS8733.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.442730	0.96187	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	.	.	.	4.36	4.36	0.52297	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7412	11.7776	0.51995	0.0:0.0:0.8236:0.1764	.	.	.	.	X	186;174	.	ENSP00000329748:R186X	R	-	1	2	CPNE8	37447723	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.377000	0.44300	2.366000	0.80165	0.591000	0.81541	CGA	CPNE8	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000139117		0.303	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1	112	0.00	0	G	NM_153634		39161456	39161456	-1	no_errors	ENST00000331366	ensembl	human	known	69_37n	nonsense	32	44.83	26	SNP	1.000	A
CSPG5	10675	genome.wustl.edu	37	3	47610685	47610685	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr3:47610685T>A	ENST00000383738.2	-	4	3513	c.1415A>T	c.(1414-1416)gAt>gTt	p.D472V	CSPG5_ENST00000264723.4_Missense_Mutation_p.D472V|CSPG5_ENST00000456150.1_Missense_Mutation_p.D334V	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	472					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGAGAAGTTATCATTGTGGAG	0.502																																						dbGAP											0													142.0	124.0	130.0					3																	47610685		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1415A>T	3.37:g.47610685T>A	ENSP00000373244:p.Asp472Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q71M39|Q71M40	Missense_Mutation	SNP	pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt	p.D472V	ENST00000383738.2	37	c.1415	CCDS56253.1	3	.	.	.	.	.	.	.	.	.	.	T	28.6	4.936017	0.92458	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.37235	1.3;1.35;1.21	5.46	5.46	0.80206	Neural chondroitin sulphate proteoglycan cytoplasmic (1);	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.51865	-0.8651	10	0.87932	D	0	-19.1443	14.374	0.66860	0.0:0.0:0.0:1.0	.	472;472	O95196;O95196-2	CSPG5_HUMAN;.	V	334;472;472	ENSP00000392096:D334V;ENSP00000373244:D472V;ENSP00000264723:D472V	ENSP00000264723:D472V	D	-	2	0	CSPG5	47585689	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.052000	0.76634	2.062000	0.61559	0.533000	0.62120	GAT	CSPG5	-	pfam_Neural_ProG_Cyt	ENSG00000114646		0.502	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG5	HGNC	protein_coding	OTTHUMT00000257489.1	187	0.00	0	T	NM_006574		47610685	47610685	-1	no_errors	ENST00000383738	ensembl	human	known	69_37n	missense	42	43.24	32	SNP	1.000	A
CYP2F1	1572	genome.wustl.edu	37	19	41627364	41627364	+	Splice_Site	SNP	C	C	T			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr19:41627364C>T	ENST00000331105.2	+	5	558	c.486C>T	c.(484-486)ggC>ggT	p.G162G		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	162					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TACCCTCAGGCGAGCCCTTTG	0.527																																						dbGAP											0													168.0	159.0	162.0					19																	41627364		2180	4299	6479	-	-	-	SO:0001630	splice_region_variant	0			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.485-1C>T	19.37:g.41627364C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.G162	ENST00000331105.2	37	c.486	CCDS12572.1	19																																																																																			CYP2F1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000197446		0.527	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2	48	0.00	0	C		Silent	41627364	41627364	+1	no_errors	ENST00000331105	ensembl	human	known	69_37n	silent	44	20.00	11	SNP	0.025	T
BRINP1	1620	genome.wustl.edu	37	9	121971044	121971044	+	Silent	SNP	G	G	A			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr9:121971044G>A	ENST00000265922.3	-	7	1559	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	BRINP1_ENST00000482797.1_5'UTR	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	366					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											AGCGTACACTGAGGCCGAAAA	0.582																																						dbGAP											0													212.0	179.0	190.0					9																	121971044		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1098C>T	9.37:g.121971044G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	pfam_MACPF,smart_MACPF	p.L366	ENST00000265922.3	37	c.1098	CCDS6822.1	9																																																																																			DBC1	-	NULL	ENSG00000078725		0.582	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	HGNC	protein_coding	OTTHUMT00000055440.2	158	0.00	0	G	NM_014618		121971044	121971044	-1	no_errors	ENST00000265922	ensembl	human	known	69_37n	silent	63	32.26	30	SNP	1.000	A
DCST2	127579	genome.wustl.edu	37	1	154995617	154995617	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr1:154995617G>A	ENST00000368424.3	-	14	2139	c.2081C>T	c.(2080-2082)tCa>tTa	p.S694L		NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	694						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGACTCCATTGAGAGGCTCCT	0.557																																						dbGAP											0													100.0	100.0	100.0					1																	154995617		1960	4168	6128	-	-	-	SO:0001583	missense	0			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.2081C>T	1.37:g.154995617G>A	ENSP00000357409:p.Ser694Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	pfam_DC_STAMP-like	p.S694L	ENST00000368424.3	37	c.2081	CCDS1082.2	1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100757	0.37048	.	.	ENSG00000163354	ENST00000368424	T	0.21932	1.98	4.19	3.28	0.37604	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	0.21105	N	0.999789	B	0.09022	0.002	B	0.08055	0.003	T	0.39522	-0.9610	9	0.66056	D	0.02	-0.9985	8.2998	0.32008	0.1112:0.0:0.8888:0.0	.	694	Q5T1A1	DCST2_HUMAN	L	694	ENSP00000357409:S694L	ENSP00000357409:S694L	S	-	2	0	DCST2	153262241	0.001000	0.12720	0.002000	0.10522	0.409000	0.31022	0.910000	0.28571	1.086000	0.41228	0.655000	0.94253	TCA	DCST2	-	NULL	ENSG00000163354		0.557	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST2	HGNC	protein_coding	OTTHUMT00000090953.3	60	0.00	0	G	NM_144622		154995617	154995617	-1	no_errors	ENST00000368424	ensembl	human	known	69_37n	missense	18	50.00	18	SNP	0.002	A
DNAJB5	25822	genome.wustl.edu	37	9	34996381	34996381	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr9:34996381T>C	ENST00000541010.1	+	2	3343	c.331T>C	c.(331-333)Ttc>Ctc	p.F111L	DNAJB5_ENST00000454002.2_Missense_Mutation_p.F183L|DNAJB5_ENST00000312316.5_Missense_Mutation_p.F111L|DNAJB5_ENST00000453597.3_Missense_Mutation_p.F225L|DNAJB5_ENST00000545841.1_Missense_Mutation_p.F111L|DNAJB5_ENST00000335998.3_Missense_Mutation_p.F145L			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	111					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CTTCGATATCTTCTTTGCCAG	0.557																																						dbGAP											0													76.0	76.0	76.0					9																	34996381		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.331T>C	9.37:g.34996381T>C	ENSP00000443151:p.Phe111Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.F183L	ENST00000541010.1	37	c.547	CCDS35007.1	9	.	.	.	.	.	.	.	.	.	.	T	20.7	4.032199	0.75504	.	.	ENSG00000137094	ENST00000453597;ENST00000335998;ENST00000378751;ENST00000312316;ENST00000541010;ENST00000454002;ENST00000545841;ENST00000539059;ENST00000443266	T;T;T;T;T;T;T;T	0.71341	0.23;0.3;0.17;0.17;0.26;0.17;-0.56;-0.44	5.11	5.11	0.69529	.	0.044787	0.85682	D	0.000000	T	0.67040	0.2851	L	0.38531	1.155	0.80722	D	1	B;B	0.31413	0.322;0.027	B;B	0.39531	0.302;0.028	T	0.68538	-0.5382	10	0.52906	T	0.07	.	14.5337	0.67944	0.0:0.0:0.0:1.0	.	183;111	B4DSA6;O75953	.;DNJB5_HUMAN	L	225;145;111;111;111;183;111;147;111	ENSP00000404079:F225L;ENSP00000337626:F145L;ENSP00000312517:F111L;ENSP00000443151:F111L;ENSP00000413684:F183L;ENSP00000441999:F111L;ENSP00000445536:F147L;ENSP00000396332:F111L	ENSP00000312517:F111L	F	+	1	0	DNAJB5	34986381	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.825000	0.86693	2.279000	0.76181	0.459000	0.35465	TTC	DNAJB5	-	NULL	ENSG00000137094		0.557	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	DNAJB5	HGNC	protein_coding	OTTHUMT00000401397.1	55	0.00	0	T			34996381	34996381	+1	no_errors	ENST00000454002	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	1.000	C
DOK1	1796	genome.wustl.edu	37	2	74783592	74783592	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr2:74783592G>C	ENST00000233668.5	+	5	1466	c.797G>C	c.(796-798)aGa>aCa	p.R266T	LOXL3_ENST00000409986.1_5'Flank|DOK1_ENST00000340004.6_3'UTR|M1AP_ENST00000464686.1_5'Flank|LOXL3_ENST00000393937.2_5'Flank|LOXL3_ENST00000264094.3_5'Flank|DOK1_ENST00000409429.1_Missense_Mutation_p.R127T|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	266					cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GATGTTCTCAGAGCTGACTCC	0.622																																					Esophageal Squamous(36;520 860 12502 33616 51270)	dbGAP											0													56.0	58.0	57.0					2																	74783592		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.797G>C	2.37:g.74783592G>C	ENSP00000233668:p.Arg266Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O43204|Q53TY2|Q9UHG6	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.R266T	ENST00000233668.5	37	c.797	CCDS1954.1	2	.	.	.	.	.	.	.	.	.	.	G	5.007	0.187040	0.09547	.	.	ENSG00000115325	ENST00000409429;ENST00000233668	T;T	0.30981	1.51;1.52	4.5	2.69	0.31865	.	0.936352	0.09169	N	0.839135	T	0.23014	0.0556	L	0.44542	1.39	0.09310	N	0.999995	B;B	0.24186	0.099;0.041	B;B	0.19391	0.025;0.025	T	0.32877	-0.9890	10	0.12430	T	0.62	-3.3426	7.0784	0.25217	0.2051:0.0:0.7949:0.0	.	255;266	B4DJN1;Q99704	.;DOK1_HUMAN	T	127;266	ENSP00000387016:R127T;ENSP00000233668:R266T	ENSP00000233668:R266T	R	+	2	0	DOK1	74637100	0.002000	0.14202	0.004000	0.12327	0.429000	0.31625	0.602000	0.24134	0.634000	0.30469	0.561000	0.74099	AGA	DOK1	-	NULL	ENSG00000115325		0.622	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK1	HGNC	protein_coding	OTTHUMT00000252218.3	41	0.00	0	G	NM_001381		74783592	74783592	+1	no_errors	ENST00000233668	ensembl	human	known	69_37n	missense	15	34.78	8	SNP	0.004	C
EPPK1	83481	genome.wustl.edu	37	8	144940706	144940706	+	Missense_Mutation	SNP	C	C	T	rs112377501	byFrequency	TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr8:144940706C>T	ENST00000525985.1	-	2	6787	c.6716G>A	c.(6715-6717)cGc>cAc	p.R2239H				P58107	EPIPL_HUMAN	epiplakin 1	2239						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.R2239H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCTCCTGGCGGCCGGGCTG	0.701																																						dbGAP											2	Substitution - Missense(2)	prostate(1)|central_nervous_system(1)											61.0	61.0	61.0					8																	144940706		2173	4243	6416	-	-	-	SO:0001583	missense	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6716G>A	8.37:g.144940706C>T	ENSP00000436337:p.Arg2239His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.R2239H	ENST00000525985.1	37	c.6716		8	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221029	0.58560	.	.	ENSG00000227184	ENST00000525985	T	0.73047	-0.71	4.67	3.7	0.42460	.	.	.	.	.	T	0.50854	0.1640	L	0.38175	1.15	0.25587	N	0.986731	P	0.43938	0.822	B	0.30179	0.112	T	0.49093	-0.8975	9	0.45353	T	0.12	.	5.4805	0.16721	0.0:0.7826:0.0:0.2174	.	2239	E9PPU0	.	H	2239	ENSP00000436337:R2239H	ENSP00000436337:R2239H	R	-	2	0	EPPK1	145012694	.	.	0.959000	0.39883	0.982000	0.71751	.	.	2.420000	0.82092	0.591000	0.81541	CGC	EPPK1	-	pfam_Plectin_repeat,smart_Plectin_repeat	ENSG00000227184		0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	31	0.00	0	C	NM_031308		144940706	144940706	-1	no_errors	ENST00000525985	ensembl	human	known	69_37n	missense	31	16.22	6	SNP	0.950	T
EYS	346007	genome.wustl.edu	37	6	64431555	64431555	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr6:64431555A>G	ENST00000370621.3	-	44	8961	c.8435T>C	c.(8434-8436)gTt>gCt	p.V2812A	EYS_ENST00000503581.1_Missense_Mutation_p.V2791A|EYS_ENST00000370616.2_Missense_Mutation_p.V2812A			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2812	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTCTGCACCAACTCTTCCTGC	0.393																																						dbGAP											0													303.0	234.0	255.0					6																	64431555		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.8435T>C	6.37:g.64431555A>G	ENSP00000359655:p.Val2812Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.V2812A	ENST00000370621.3	37	c.8435		6	.	.	.	.	.	.	.	.	.	.	A	15.28	2.785525	0.49997	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.75477	-0.94;-0.94;-0.94	4.71	0.716	0.18191	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.327832	0.23668	U	0.045758	T	0.42765	0.1217	L	0.58101	1.795	0.80722	D	1	B;B	0.30068	0.225;0.267	B;B	0.27608	0.079;0.081	T	0.26608	-1.0098	10	0.19590	T	0.45	.	3.0177	0.06065	0.4858:0.0:0.1786:0.3356	.	2791;2812	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	A	2791;2812;2812	ENSP00000424243:V2791A;ENSP00000359655:V2812A;ENSP00000359650:V2812A	ENSP00000359650:V2812A	V	-	2	0	EYS	64489514	0.769000	0.28531	0.999000	0.59377	0.988000	0.76386	0.413000	0.21148	0.193000	0.20303	0.528000	0.53228	GTT	EYS	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000188107		0.393	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	266	0.00	0	A	XM_294050		64431555	64431555	-1	no_errors	ENST00000370616	ensembl	human	known	69_37n	missense	106	31.41	49	SNP	0.999	G
FAM171B	165215	genome.wustl.edu	37	2	187626830	187626830	+	Silent	SNP	C	C	G			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr2:187626830C>G	ENST00000304698.5	+	8	1964	c.1761C>G	c.(1759-1761)ccC>ccG	p.P587P		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	587						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGACCTTGCCCAAAATGCCAA	0.468																																						dbGAP											0													82.0	78.0	80.0					2																	187626830		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1761C>G	2.37:g.187626830C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	pfam_Uncharacterised_FAM171	p.P587	ENST00000304698.5	37	c.1761	CCDS33347.1	2																																																																																			FAM171B	-	pfam_Uncharacterised_FAM171	ENSG00000144369		0.468	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171B	HGNC	protein_coding	OTTHUMT00000334679.1	87	0.00	0	C	NM_177454		187626830	187626830	+1	no_errors	ENST00000304698	ensembl	human	known	69_37n	silent	30	45.45	25	SNP	1.000	G
FAM76B	143684	genome.wustl.edu	37	11	95520814	95520814	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr11:95520814C>T	ENST00000358780.5	-	3	493	c.181G>A	c.(181-183)Gct>Act	p.A61T	CEP57_ENST00000325542.5_5'Flank|CEP57_ENST00000537677.1_5'Flank|FAM76B_ENST00000536839.1_Missense_Mutation_p.A61T|CEP57_ENST00000325486.5_5'Flank|FAM76B_ENST00000538047.1_5'UTR	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	61						nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACATTTTGAGCACACTTCTTA	0.274																																						dbGAP											0													86.0	85.0	85.0					11																	95520814		1835	4076	5911	-	-	-	SO:0001583	missense	0				CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458			28492	protein-coding gene	gene with protein product						12477932	Standard	NM_144664		Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.181G>A	11.37:g.95520814C>T	ENSP00000351631:p.Ala61Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PIU3|Q8TC53	Missense_Mutation	SNP	NULL	p.A61T	ENST00000358780.5	37	c.181	CCDS41700.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.514939	0.96402	.	.	ENSG00000077458	ENST00000358780;ENST00000536839	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	L	0.56769	1.78	0.80722	D	1	P	0.35542	0.508	B	0.42882	0.401	T	0.60209	-0.7308	9	0.22109	T	0.4	0.0	17.936	0.89012	0.0:1.0:0.0:0.0	.	61	Q5HYJ3	FA76B_HUMAN	T	61	.	ENSP00000351631:A61T	A	-	1	0	FAM76B	95160462	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.634000	0.74290	2.663000	0.90544	0.491000	0.48974	GCT	FAM76B	-	NULL	ENSG00000077458		0.274	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM76B	HGNC	protein_coding	OTTHUMT00000395969.1	137	0.00	0	C	NM_144664		95520814	95520814	-1	no_errors	ENST00000358780	ensembl	human	known	69_37n	missense	32	49.21	31	SNP	1.000	T
FOCAD	54914	genome.wustl.edu	37	9	20990142	20990142	+	Silent	SNP	G	G	A			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr9:20990142G>A	ENST00000380249.1	+	44	5389	c.5025G>A	c.(5023-5025)ctG>ctA	p.L1675L	FOCAD_ENST00000605086.1_Silent_p.L1111L|FOCAD_ENST00000338382.6_Silent_p.L1675L	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1675						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TCTTCTTGCTGATATTTGCAA	0.483																																						dbGAP											0													90.0	79.0	83.0					9																	20990142		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.5025G>A	9.37:g.20990142G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.L1675	ENST00000380249.1	37	c.5025	CCDS34993.1	9																																																																																			FOCAD	-	pfam_DUF3028	ENSG00000188352		0.483	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	39	0.00	0	G	NM_017794		20990142	20990142	+1	no_errors	ENST00000338382	ensembl	human	known	69_37n	silent	27	22.86	8	SNP	1.000	A
GBP7	388646	genome.wustl.edu	37	1	89630428	89630428	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr1:89630428C>T	ENST00000294671.2	-	3	442	c.304G>A	c.(304-306)Ggt>Agt	p.G102S		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	102	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TCCATATCACCCAGGCCCTCC	0.458																																						dbGAP											0													97.0	91.0	93.0					1																	89630428		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.304G>A	1.37:g.89630428C>T	ENSP00000294671:p.Gly102Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.G102S	ENST00000294671.2	37	c.304	CCDS720.1	1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624941	0.66901	.	.	ENSG00000213512	ENST00000294671	T	0.63913	-0.07	3.62	3.62	0.41486	Guanylate-binding protein, N-terminal (1);	0.061993	0.64402	D	0.000006	T	0.78310	0.4263	M	0.91818	3.245	0.36815	D	0.886093	D	0.76494	0.999	D	0.76575	0.988	D	0.84029	0.0358	10	0.87932	D	0	.	13.1291	0.59371	0.0:1.0:0.0:0.0	.	102	Q8N8V2	GBP7_HUMAN	S	102	ENSP00000294671:G102S	ENSP00000294671:G102S	G	-	1	0	GBP7	89403016	1.000000	0.71417	0.190000	0.23270	0.684000	0.39900	4.123000	0.57917	2.008000	0.58898	0.462000	0.41574	GGT	GBP7	-	pfam_Guanylate-bd_N	ENSG00000213512		0.458	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP7	HGNC	protein_coding	OTTHUMT00000029401.1	130	0.00	0	C	NM_207398		89630428	89630428	-1	no_errors	ENST00000294671	ensembl	human	known	69_37n	missense	59	21.33	16	SNP	0.994	T
GJA3	2700	genome.wustl.edu	37	13	20717290	20717290	+	Silent	SNP	G	G	A			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr13:20717290G>A	ENST00000241125.3	-	2	314	c.138C>T	c.(136-138)ggC>ggT	p.G46G		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	46					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		ACTGCTCATCGCCCCACACGT	0.637																																						dbGAP											0													79.0	65.0	70.0					13																	20717290		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"""Ion channels / Gap junction proteins (connexins)"""	4277	protein-coding gene	gene with protein product	"""connexin 46"""	121015	"""gap junction protein, alpha 3, 46kD (connexin 46)"", ""gap junction protein, alpha 3, 46kDa (connexin 46)"""	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.138C>T	13.37:g.20717290G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAB7|Q9H537	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin46	p.G46	ENST00000241125.3	37	c.138	CCDS9289.1	13																																																																																			GJA3	-	pfam_Connexin_N,smart_Connexin_N	ENSG00000121743		0.637	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA3	HGNC	protein_coding	OTTHUMT00000044059.3	95	0.00	0	G	NM_021954		20717290	20717290	-1	no_errors	ENST00000241125	ensembl	human	known	69_37n	silent	33	43.10	25	SNP	0.137	A
GNB2	2783	genome.wustl.edu	37	7	100276323	100276323	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr7:100276323C>T	ENST00000303210.4	+	10	1404	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F	GNB2_ENST00000419828.1_Missense_Mutation_p.L208F|GNB2_ENST00000393924.1_Missense_Mutation_p.L308F|GNB2_ENST00000393926.1_Missense_Mutation_p.L308F|GNB2_ENST00000436220.1_Missense_Mutation_p.L264F|GNB2_ENST00000427895.1_Missense_Mutation_p.L208F|GNB2_ENST00000424361.1_Missense_Mutation_p.L264F	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	308					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CACAGGAGTCCTCGCTGGCCA	0.647																																						dbGAP											0													59.0	61.0	60.0					7																	100276323		2203	4299	6502	-	-	-	SO:0001583	missense	0			M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.922C>T	7.37:g.100276323C>T	ENSP00000305260:p.Leu308Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPU1|P11016|P54312	Missense_Mutation	SNP	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L308F	ENST00000303210.4	37	c.922	CCDS5703.1	7	.	.	.	.	.	.	.	.	.	.	.	17.19	3.327095	0.60743	.	.	ENSG00000172354	ENST00000303210;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000393924	T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.21	5.21	0.72293	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.75613	0.3873	L	0.55481	1.735	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.77253	-0.2656	10	0.87932	D	0	-2.251	16.3616	0.83270	0.0:1.0:0.0:0.0	.	308	P62879	GBB2_HUMAN	F	308;264;264;208;208;308;308	ENSP00000305260:L308F;ENSP00000401873:L264F;ENSP00000389391:L264F;ENSP00000390543:L208F;ENSP00000400286:L208F;ENSP00000377503:L308F;ENSP00000377501:L308F	ENSP00000305260:L308F	L	+	1	0	GNB2	100114259	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	3.827000	0.55745	2.729000	0.93468	0.555000	0.69702	CTC	GNB2	-	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000172354		0.647	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB2	HGNC	protein_coding	OTTHUMT00000268391.2	33	0.00	0	C	NM_005273		100276323	100276323	+1	no_errors	ENST00000303210	ensembl	human	known	69_37n	missense	19	34.48	10	SNP	1.000	T
GTF3C1	2975	genome.wustl.edu	37	16	27556779	27556779	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr16:27556779T>A	ENST00000356183.4	-	2	302	c.287A>T	c.(286-288)gAt>gTt	p.D96V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D96V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	96					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGGGTAGACATCCTCCAAAGC	0.428																																						dbGAP											0													113.0	98.0	103.0					16																	27556779		2197	4300	6497	-	-	-	SO:0001583	missense	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.287A>T	16.37:g.27556779T>A	ENSP00000348510:p.Asp96Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.D96V	ENST00000356183.4	37	c.287	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745404	0.49151	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.33216	1.42	4.22	4.22	0.49857	.	0.000000	0.64402	D	0.000001	T	0.48537	0.1505	M	0.72894	2.215	0.80722	D	1	D;D	0.61697	0.99;0.979	P;P	0.58172	0.834;0.79	T	0.54463	-0.8290	10	0.72032	D	0.01	-4.27	13.2486	0.60039	0.0:0.0:0.0:1.0	.	96;96	Q12789;Q12789-3	TF3C1_HUMAN;.	V	96	ENSP00000348510:D96V	ENSP00000348510:D96V	D	-	2	0	GTF3C1	27464280	1.000000	0.71417	0.979000	0.43373	0.024000	0.10985	7.156000	0.77453	1.670000	0.50864	0.402000	0.26972	GAT	GTF3C1	-	NULL	ENSG00000077235		0.428	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	65	0.00	0	T	NM_001520		27556779	27556779	-1	no_errors	ENST00000356183	ensembl	human	known	69_37n	missense	54	22.86	16	SNP	1.000	A
HERC2	8924	genome.wustl.edu	37	15	28387403	28387403	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr15:28387403G>C	ENST00000261609.7	-	76	11789	c.11681C>G	c.(11680-11682)cCc>cGc	p.P3894R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAACAGACGGGGCAACGGTGT	0.473																																						dbGAP											0													63.0	61.0	62.0					15																	28387403		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11681C>G	15.37:g.28387403G>C	ENSP00000261609:p.Pro3894Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.P3894R	ENST00000261609.7	37	c.11681	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817465	0.90790	.	.	ENSG00000128731	ENST00000261609	T	0.51574	0.7	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.69869	0.3159	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70389	-0.4885	10	0.87932	D	0	.	20.2626	0.98452	0.0:0.0:1.0:0.0	.	3894	O95714	HERC2_HUMAN	R	3894	ENSP00000261609:P3894R	ENSP00000261609:P3894R	P	-	2	0	HERC2	26060998	1.000000	0.71417	0.778000	0.31720	0.994000	0.84299	9.461000	0.97646	2.802000	0.96397	0.650000	0.86243	CCC	HERC2	-	NULL	ENSG00000128731		0.473	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	53	0.00	0	G	NM_004667		28387403	28387403	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	missense	29	34.09	15	SNP	1.000	C
HGF	3082	genome.wustl.edu	37	7	81334803	81334803	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr7:81334803C>T	ENST00000222390.5	-	17	2139	c.1913G>A	c.(1912-1914)gGa>gAa	p.G638E	HGF_ENST00000457544.2_Missense_Mutation_p.G633E	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	638	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTTCTCATTTCCCATTATATA	0.403																																						dbGAP											0													90.0	84.0	86.0					7																	81334803		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1913G>A	7.37:g.81334803C>T	ENSP00000222390:p.Gly638Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G638E	ENST00000222390.5	37	c.1913	CCDS5597.1	7	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807311	0.70797	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.82167	-1.58;-1.58	4.95	4.95	0.65309	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.046537	0.85682	D	0.000000	T	0.80869	0.4706	N	0.05306	-0.075	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70227	0.946;0.968	T	0.79152	-0.1921	10	0.16896	T	0.51	.	18.5506	0.91063	0.0:1.0:0.0:0.0	.	633;638	P14210-3;P14210	.;HGF_HUMAN	E	638;633	ENSP00000222390:G638E;ENSP00000391238:G633E	ENSP00000222390:G638E	G	-	2	0	HGF	81172739	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.381000	0.59587	2.444000	0.82710	0.460000	0.39030	GGA	HGF	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000019991		0.403	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	HGNC	protein_coding	OTTHUMT00000253315.2	101	0.00	0	C	NM_000601		81334803	81334803	-1	no_errors	ENST00000222390	ensembl	human	known	69_37n	missense	54	27.03	20	SNP	1.000	T
HRNR	388697	genome.wustl.edu	37	1	152186443	152186443	+	Silent	SNP	A	A	G	rs140336724		TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr1:152186443A>G	ENST00000368801.2	-	3	7737	c.7662T>C	c.(7660-7662)caT>caC	p.H2554H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2554					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCAGACCCATGTCGGCCGT	0.627																																						dbGAP											0													1.0	1.0	1.0					1																	152186443		25	122	147	-	-	-	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7662T>C	1.37:g.152186443A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.H2554	ENST00000368801.2	37	c.7662	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.627	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	11	0.00	0	A	XM_373868		152186443	152186443	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	silent	3	50.00	3	SNP	0.000	G
KIAA1210	57481	genome.wustl.edu	37	X	118221704	118221704	+	Silent	SNP	C	C	T			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chrX:118221704C>T	ENST00000402510.2	-	11	3488	c.3489G>A	c.(3487-3489)aaG>aaA	p.K1163K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1163										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTTTAGACCTCTTTAAGAACT	0.478																																						dbGAP											0													61.0	55.0	57.0					X																	118221704		1863	4093	5956	-	-	-	SO:0001819	synonymous_variant	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3489G>A	X.37:g.118221704C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZCI8|Q5JPN4	Silent	SNP	NULL	p.K1163	ENST00000402510.2	37	c.3489	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	C	3.115	-0.181747	0.06340	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.43	-5.43	0.02632	.	.	.	.	.	T	0.18087	0.0434	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22034	-1.0228	4	.	.	.	.	3.2529	0.06820	0.1156:0.1691:0.451:0.2643	.	.	.	.	K	570	.	.	E	-	1	0	KIAA1210	118105732	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.277000	0.02812	-1.596000	0.01611	0.600000	0.82982	GAG	KIAA1210	-	NULL	ENSG00000250423		0.478	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	110	0.00	0	C	NM_020721		118221704	118221704	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	silent	34	30.61	15	SNP	0.000	T
LBX1	10660	genome.wustl.edu	37	10	102987344	102987344	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr10:102987344G>T	ENST00000370193.2	-	2	1507	c.529C>A	c.(529-531)Cgc>Agc	p.R177S	LBX1-AS1_ENST00000546988.1_RNA|LBX1-AS1_ENST00000547077.1_RNA	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	177					anatomical structure morphogenesis (GO:0009653)|heart looping (GO:0001947)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neuron fate determination (GO:0048664)|regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification (GO:0021920)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		AGCTTAGCGCGCCGATTCTGG	0.622																																						dbGAP											0													71.0	72.0	71.0					10																	102987344		2203	4300	6503	-	-	-	SO:0001583	missense	0			X90828	CCDS31270.1	10q24.32	2011-06-20	2007-02-15		ENSG00000138136	ENSG00000138136		"""Homeoboxes / ANTP class : NKL subclass"""	16960	protein-coding gene	gene with protein product		604255	"""ladybird homeobox homolog 1 (Drosophila)"""			8645601	Standard	XM_005269443		Approved	LBX1H, HPX6	uc001ksx.3	P52954	OTTHUMG00000018927	ENST00000370193.2:c.529C>A	10.37:g.102987344G>T	ENSP00000359212:p.Arg177Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGA2|Q05BB2	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif	p.R177S	ENST00000370193.2	37	c.529	CCDS31270.1	10	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157538	0.78114	.	.	ENSG00000138136	ENST00000370193	D	0.99158	-5.5	5.61	5.61	0.85477	Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99548	0.9838	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98047	1.0385	10	0.87932	D	0	.	14.1263	0.65222	0.0:0.0:0.8497:0.1503	.	177	P52954	LBX1_HUMAN	S	177	ENSP00000359212:R177S	ENSP00000359212:R177S	R	-	1	0	LBX1	102977334	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.750000	0.47500	2.646000	0.89796	0.561000	0.74099	CGC	LBX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif	ENSG00000138136		0.622	LBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LBX1	HGNC	protein_coding	OTTHUMT00000049928.3	52	0.00	0	G	NM_006562		102987344	102987344	-1	no_errors	ENST00000370193	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	1.000	T
LILRB1	10859	genome.wustl.edu	37	19	55148052	55148052	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr19:55148052C>A	ENST00000396331.1	+	15	2112	c.1755C>A	c.(1753-1755)ttC>ttA	p.F585L	LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.F636L|LILRB1_ENST00000396332.4_Missense_Mutation_p.F586L|LILRB1_ENST00000396317.1_Missense_Mutation_p.F569L|LILRB1_ENST00000434867.2_Missense_Mutation_p.F585L|LILRB1_ENST00000396327.3_Missense_Mutation_p.F586L|LILRB1_ENST00000448689.1_3'UTR|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000418536.2_Missense_Mutation_p.F569L|LILRB1_ENST00000396321.2_Missense_Mutation_p.F585L|LILRB1_ENST00000324602.7_Missense_Mutation_p.F587L|LILRB1_ENST00000396315.1_Missense_Mutation_p.F587L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	585					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTGGGGAATTCCTGGACACAA	0.602										HNSCC(37;0.09)																												dbGAP											0													100.0	85.0	90.0					19																	55148052		2199	4292	6491	-	-	-	SO:0001583	missense	0			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1755C>A	19.37:g.55148052C>A	ENSP00000379622:p.Phe585Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F587L	ENST00000396331.1	37	c.1761	CCDS42617.1	19	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.378878	0.01204	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00469	7.31;7.31;7.31;7.3;7.3;7.31;7.31;7.21;7.31;7.3	1.67	-3.33	0.04958	.	.	.	.	.	T	0.00496	0.0016	L	0.39020	1.185	0.09310	N	1	B;D;B;D;D	0.71674	0.023;0.998;0.012;0.988;0.993	B;D;B;P;P	0.76071	0.021;0.987;0.003;0.717;0.787	T	0.38607	-0.9653	9	0.09590	T	0.72	.	1.1516	0.01787	0.422:0.277:0.1565:0.1446	.	569;587;586;586;585	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	L	585;569;585;586;587;585;586;636;569;587	ENSP00000379614:F585L;ENSP00000391514:F569L;ENSP00000379622:F585L;ENSP00000379618:F586L;ENSP00000315997:F587L;ENSP00000405243:F585L;ENSP00000379623:F586L;ENSP00000395004:F636L;ENSP00000379610:F569L;ENSP00000379608:F587L	ENSP00000315997:F587L	F	+	3	2	LILRB1	59839864	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-1.431000	0.02432	-2.680000	0.00409	0.194000	0.17425	TTC	LILRB1	-	NULL	ENSG00000104972		0.602	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB1	HGNC	protein_coding	OTTHUMT00000140796.4	146	0.00	0	C			55148052	55148052	+1	no_errors	ENST00000324602	ensembl	human	known	69_37n	missense	91	20.18	23	SNP	0.000	A
LRRC58	116064	genome.wustl.edu	37	3	120067641	120067641	+	Silent	SNP	C	C	G			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr3:120067641C>G	ENST00000295628.3	-	1	545	c.450G>C	c.(448-450)ctG>ctC	p.L150L	RP11-174O3.3_ENST00000494869.1_RNA	NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	150										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		GGTTGCCGCCCAGGCTCAGGG	0.672																																						dbGAP											0													13.0	16.0	15.0					3																	120067641		1976	4173	6149	-	-	-	SO:0001819	synonymous_variant	0			BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.450G>C	3.37:g.120067641C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L150	ENST00000295628.3	37	c.450	CCDS46892.1	3																																																																																			LRRC58	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000163428		0.672	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC58	HGNC	protein_coding	OTTHUMT00000355142.1	17	0.00	0	C	XM_057296		120067641	120067641	-1	no_errors	ENST00000295628	ensembl	human	known	69_37n	silent	14	22.22	4	SNP	1.000	G
LRRC71	149499	genome.wustl.edu	37	1	156890672	156890672	+	Missense_Mutation	SNP	T	T	C	rs41273221	byFrequency	TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr1:156890672T>C	ENST00000337428.7	+	1	231	c.77T>C	c.(76-78)gTg>gCg	p.V26A		NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	26										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						TCTGGCGCGGTGACCAAAAAG	0.697													T|||	945	0.188698	0.1604	0.1628	5008	,	,		13847	0.2847		0.174	False		,,,				2504	0.1616					dbGAP											0													10.0	17.0	15.0					1																	156890672		690	1587	2277	-	-	-	SO:0001583	missense	0			BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.77T>C	1.37:g.156890672T>C	ENSP00000336661:p.Val26Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96M24	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.V26A	ENST00000337428.7	37	c.77	CCDS44249.1	1	457	0.20924908424908426	79	0.16056910569105692	69	0.19060773480662985	185	0.32342657342657344	124	0.16358839050131926	T	10.69	1.421957	0.25639	.	.	ENSG00000160838	ENST00000337428	T	0.25250	1.81	4.97	-2.03	0.07365	.	0.956381	0.08632	N	0.916908	T	0.04952	0.0133	N	0.24115	0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40346	-0.9568	9	0.56958	D	0.05	-9.6466	4.4224	0.11486	0.1486:0.3411:0.0:0.5104	rs41273221;rs62640956	26	Q8N4P6	LRC71_HUMAN	A	26	ENSP00000336661:V26A	ENSP00000336661:V26A	V	+	2	0	LRRC71	155157296	0.440000	0.25618	0.020000	0.16555	0.172000	0.22775	0.040000	0.13905	-0.554000	0.06150	0.397000	0.26171	GTG	LRRC71	-	NULL	ENSG00000160838		0.697	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC71	HGNC	protein_coding	OTTHUMT00000098961.1	10	0.00	0	T	NM_144702		156890672	156890672	+1	no_errors	ENST00000337428	ensembl	human	known	69_37n	missense	7	41.67	5	SNP	0.011	C
LY86	9450	genome.wustl.edu	37	6	6589046	6589046	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr6:6589046T>G	ENST00000379953.2	+	2	431	c.79T>G	c.(79-81)Tgg>Ggg	p.W27G	LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000435641.1_RNA|LY86_ENST00000230568.4_Missense_Mutation_p.W27G|LY86-AS1_ENST00000447858.1_RNA			O95711	LY86_HUMAN	lymphocyte antigen 86	27					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TGGGAAAGCCTGGCCCACACA	0.572																																						dbGAP											0													88.0	84.0	85.0					6																	6589046		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF057178	CCDS4498.1	6p24.3	2010-07-08			ENSG00000112799	ENSG00000112799			16837	protein-coding gene	gene with protein product		605241				9763566	Standard	NM_004271		Approved	MD-1, dJ80N2.1	uc003mwy.1	O95711	OTTHUMG00000014190	ENST00000379953.2:c.79T>G	6.37:g.6589046T>G	ENSP00000369286:p.Trp27Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQC4	Missense_Mutation	SNP	pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog	p.W27G	ENST00000379953.2	37	c.79	CCDS4498.1	6	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723258	0.48728	.	.	ENSG00000112799	ENST00000379953;ENST00000230568	T;T	0.52295	0.67;0.67	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000013	T	0.47248	0.1435	L	0.32530	0.975	0.45490	D	0.99845	D	0.89917	1.0	D	0.81914	0.995	T	0.55140	-0.8187	10	0.87932	D	0	-12.8298	11.8973	0.52663	0.0:0.0:0.0:1.0	.	27	O95711	LY86_HUMAN	G	27	ENSP00000369286:W27G;ENSP00000230568:W27G	ENSP00000230568:W27G	W	+	1	0	LY86	6534045	0.992000	0.36948	0.944000	0.38274	0.265000	0.26407	3.401000	0.52601	2.061000	0.61500	0.482000	0.46254	TGG	LY86	-	NULL	ENSG00000112799		0.572	LY86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY86	HGNC	protein_coding	OTTHUMT00000039762.2	75	0.00	0	T			6589046	6589046	+1	no_errors	ENST00000230568	ensembl	human	known	69_37n	missense	45	22.41	13	SNP	0.983	G
LTV1	84946	genome.wustl.edu	37	6	144183272	144183272	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr6:144183272G>A	ENST00000367576.5	+	8	1089	c.955G>A	c.(955-957)Gag>Aag	p.E319K	ZC2HC1B_ENST00000539295.1_5'Flank|ZC2HC1B_ENST00000237275.6_5'Flank	NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	319						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		TGAACCCTTGGAGGATCAAGA	0.388																																						dbGAP											0													91.0	89.0	90.0					6																	144183272		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 93"", ""LTV1 homolog (S. cerevisiae)"""	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.955G>A	6.37:g.144183272G>A	ENSP00000356548:p.Glu319Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JX8	Missense_Mutation	SNP	pfam_LTV	p.E319K	ENST00000367576.5	37	c.955	CCDS5201.1	6	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424583	0.43020	.	.	ENSG00000135521	ENST00000367576	.	.	.	5.67	5.67	0.87782	.	0.048264	0.85682	D	0.000000	T	0.59307	0.2184	M	0.82823	2.61	0.80722	D	1	B	0.10296	0.003	B	0.15484	0.013	T	0.61317	-0.7087	9	0.15952	T	0.53	-5.5225	19.7625	0.96325	0.0:0.0:1.0:0.0	.	319	Q96GA3	LTV1_HUMAN	K	319	.	ENSP00000356548:E319K	E	+	1	0	LTV1	144224965	1.000000	0.71417	0.996000	0.52242	0.893000	0.52053	5.352000	0.66028	2.677000	0.91161	0.650000	0.86243	GAG	LTV1	-	pfam_LTV	ENSG00000135521		0.388	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTV1	HGNC	protein_coding	OTTHUMT00000042532.1	114	0.00	0	G	NM_032860		144183272	144183272	+1	no_errors	ENST00000367576	ensembl	human	known	69_37n	missense	52	34.57	28	SNP	0.993	A
MTTP	4547	genome.wustl.edu	37	4	100532382	100532382	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr4:100532382A>G	ENST00000265517.5	+	13	2055	c.1852A>G	c.(1852-1854)Act>Gct	p.T618A	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.T618A|MTTP_ENST00000511045.1_Missense_Mutation_p.T645A			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	618	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TTCTGCCTACACTGGCTACAT	0.423																																						dbGAP											0													169.0	156.0	161.0					4																	100532382		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1852A>G	4.37:g.100532382A>G	ENSP00000265517:p.Thr618Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.T618A	ENST00000265517.5	37	c.1852	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	A	13.98	2.399474	0.42512	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.63417	-0.04;-0.03;-0.03	5.84	5.84	0.93424	Lipid transport protein, N-terminal (1);	0.050498	0.85682	D	0.000000	T	0.56381	0.1981	M	0.65975	2.015	0.40783	D	0.983192	P;P	0.43431	0.584;0.807	B;B	0.39217	0.182;0.294	T	0.56884	-0.7905	10	0.16420	T	0.52	-16.0706	10.735	0.46120	0.7429:0.0:0.0:0.2571	.	645;618	E9PBP6;P55157	.;MTP_HUMAN	A	645;618;618	ENSP00000427679:T645A;ENSP00000400821:T618A;ENSP00000265517:T618A	ENSP00000265517:T618A	T	+	1	0	MTTP	100751405	1.000000	0.71417	0.999000	0.59377	0.818000	0.46254	4.455000	0.60075	2.231000	0.72958	0.533000	0.62120	ACT	MTTP	-	pfscan_Lipid_transpt_N	ENSG00000138823		0.423	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	158	0.00	0	A			100532382	100532382	+1	no_errors	ENST00000265517	ensembl	human	known	69_37n	missense	58	30.12	25	SNP	0.994	G
MYLK2	85366	genome.wustl.edu	37	20	30409483	30409483	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr20:30409483G>A	ENST00000375994.2	+	3	988	c.715G>A	c.(715-717)Gag>Aag	p.E239K	MYLK2_ENST00000375985.4_Missense_Mutation_p.E239K			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	239					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAGAAATCCGAGGTGGGGCA	0.642																																						dbGAP											0													83.0	93.0	90.0					20																	30409483		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.715G>A	20.37:g.30409483G>A	ENSP00000365162:p.Glu239Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q569L1|Q96I84	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E239K	ENST00000375994.2	37	c.715	CCDS13191.1	20	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961212	0.53400	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.66815	-0.23;-0.23	4.82	3.84	0.44239	.	.	.	.	.	T	0.57140	0.2033	M	0.63428	1.95	0.30142	N	0.803836	B	0.32620	0.378	B	0.21151	0.033	T	0.56068	-0.8040	9	0.30854	T	0.27	.	9.1075	0.36707	0.1019:0.0:0.8981:0.0	.	239	Q9H1R3	MYLK2_HUMAN	K	239	ENSP00000365162:E239K;ENSP00000365152:E239K	ENSP00000365152:E239K	E	+	1	0	MYLK2	29873144	0.979000	0.34478	0.986000	0.45419	0.963000	0.63663	1.982000	0.40638	2.516000	0.84829	0.561000	0.74099	GAG	MYLK2	-	NULL	ENSG00000101306		0.642	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYLK2	HGNC	protein_coding	OTTHUMT00000078583.2	41	0.00	0	G	NM_033118		30409483	30409483	+1	no_errors	ENST00000375985	ensembl	human	known	69_37n	missense	17	41.38	12	SNP	0.907	A
NFATC2	4773	genome.wustl.edu	37	20	50051765	50051765	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr20:50051765C>G	ENST00000396009.3	-	8	2211	c.1992G>C	c.(1990-1992)aaG>aaC	p.K664N	NFATC2_ENST00000609943.1_Missense_Mutation_p.K644N|NFATC2_ENST00000609507.1_Missense_Mutation_p.K445N|NFATC2_ENST00000414705.1_Missense_Mutation_p.K644N|NFATC2_ENST00000610033.1_Missense_Mutation_p.K445N|NFATC2_ENST00000371564.3_Missense_Mutation_p.K664N	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	664					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TTCGTTTTCTCTTCCCATTGA	0.458																																						dbGAP											0													284.0	262.0	269.0					20																	50051765		2203	4300	6503	-	-	-	SO:0001583	missense	0			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1992G>C	20.37:g.50051765C>G	ENSP00000379330:p.Lys664Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NFAT,pfscan_RHD	p.K664N	ENST00000396009.3	37	c.1992	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573260	0.65765	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.76709	-1.04;-1.04;-1.04	5.06	-0.49	0.12049	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81772	0.4893	L	0.56124	1.755	0.40844	D	0.98369	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.999;0.999	T	0.79313	-0.1855	10	0.87932	D	0	-15.4259	8.7784	0.34776	0.0:0.3673:0.0:0.6327	.	644;644;664;664	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	N	664;664;644	ENSP00000360619:K664N;ENSP00000379330:K664N;ENSP00000396471:K644N	ENSP00000360619:K664N	K	-	3	2	NFATC2	49485172	0.721000	0.28007	0.994000	0.49952	0.952000	0.60782	-0.165000	0.09968	-0.223000	0.09943	-0.290000	0.09829	AAG	NFATC2	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NFAT	ENSG00000101096		0.458	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	171	0.00	0	C	NM_012340		50051765	50051765	-1	no_errors	ENST00000396009	ensembl	human	known	69_37n	missense	77	32.46	37	SNP	0.999	G
OR4Q3	441669	genome.wustl.edu	37	14	20216391	20216391	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr14:20216391G>A	ENST00000331723.1	+	1	805	c.805G>A	c.(805-807)Gat>Aat	p.D269N		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D269N(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTCTCTGTGGATAAGATATT	0.438																																						dbGAP											1	Substitution - Missense(1)	skin(1)											161.0	163.0	162.0					14																	20216391		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.805G>A	14.37:g.20216391G>A	ENSP00000330049:p.Asp269Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEX4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.D269N	ENST00000331723.1	37	c.805	CCDS32020.1	14	.	.	.	.	.	.	.	.	.	.	.	16.30	3.085264	0.55861	.	.	ENSG00000182652	ENST00000331723	T	0.00216	8.53	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41194	U	0.000922	T	0.00468	0.0015	M	0.63843	1.955	0.33504	D	0.5903	D	0.89917	1.0	D	0.87578	0.998	T	0.70114	-0.4961	10	0.87932	D	0	.	14.4174	0.67160	0.0:0.0:1.0:0.0	.	269	Q8NH05	OR4Q3_HUMAN	N	269	ENSP00000330049:D269N	ENSP00000330049:D269N	D	+	1	0	OR4Q3	19286231	0.999000	0.42202	0.999000	0.59377	0.670000	0.39368	2.517000	0.45529	2.254000	0.74563	0.502000	0.49764	GAT	OR4Q3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000182652		0.438	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4Q3	HGNC	protein_coding	OTTHUMT00000409818.2	150	0.00	0	G			20216391	20216391	+1	no_errors	ENST00000331723	ensembl	human	known	69_37n	missense	72	20.00	18	SNP	0.975	A
RBP1	5947	genome.wustl.edu	37	3	139258365	139258365	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr3:139258365C>T	ENST00000483943.2	-	1	196	c.196G>A	c.(196-198)Gac>Aac	p.D66N	RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000232219.2_Missense_Mutation_p.D66N|RBP1_ENST00000492918.1_Missense_Mutation_p.D66N|RP11-319G6.1_ENST00000381790.3_RNA	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	4					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	CCAGTGAAGTCGACTGGCATT	0.672																																						dbGAP											0													38.0	28.0	31.0					3																	139258365		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"""Fatty acid binding protein family"""	9919	protein-coding gene	gene with protein product		180260	"""retinol-binding protein 1, cellular"""			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000483943.2:c.196G>A	3.37:g.139258365C>T	ENSP00000424813:p.Asp66Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.D66N	ENST00000483943.2	37	c.196	CCDS46925.1	3	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567621	0.65651	.	.	ENSG00000114115	ENST00000232219;ENST00000483943;ENST00000492918	T;T;T	0.22539	1.95;1.95;1.95	5.28	5.28	0.74379	Calycin-like (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.09905	0.0243	N	0.12569	0.235	0.80722	D	1	P;D;B	0.54964	0.772;0.969;0.001	B;B;B	0.32805	0.153;0.142;0.002	T	0.26430	-1.0103	10	0.12430	T	0.62	.	17.9012	0.88904	0.0:1.0:0.0:0.0	.	66;66;4	F2Z2F2;E7EWV0;P09455	.;.;RET1_HUMAN	N	66	ENSP00000232219:D66N;ENSP00000424813:D66N;ENSP00000429166:D66N	ENSP00000232219:D66N	D	-	1	0	RBP1	140741055	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	2.399000	0.44495	2.470000	0.83445	0.655000	0.94253	GAC	RBP1	-	superfamily_Calycin-like	ENSG00000114115		0.672	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	RBP1	HGNC	protein_coding	OTTHUMT00000341497.2	12	0.00	0	C	NM_002899		139258365	139258365	-1	no_errors	ENST00000232219	ensembl	human	known	69_37n	missense	10	41.18	7	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		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.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		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)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	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"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	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.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	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.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	91	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	31	56.94	41	SNP	1.000	G
SETD1A	9739	genome.wustl.edu	37	16	30975564	30975564	+	Silent	SNP	C	C	T			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr16:30975564C>T	ENST00000262519.8	+	6	1475	c.789C>T	c.(787-789)ttC>ttT	p.F263F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	263	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TTGGCCAGTTCACACCTCAGT	0.627																																						dbGAP											0													114.0	91.0	99.0					16																	30975564		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.789C>T	16.37:g.30975564C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.F263	ENST00000262519.8	37	c.789	CCDS32435.1	16																																																																																			SETD1A	-	NULL	ENSG00000099381		0.627	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	HGNC	protein_coding	OTTHUMT00000318244.2	53	0.00	0	C	NM_014712		30975564	30975564	+1	no_errors	ENST00000262519	ensembl	human	known	69_37n	silent	28	46.15	24	SNP	1.000	T
SGSM3	27352	genome.wustl.edu	37	22	40802535	40802535	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr22:40802535G>C	ENST00000248929.9	+	10	1243	c.1054G>C	c.(1054-1056)Ggg>Cgg	p.G352R	SGSM3_ENST00000454798.2_Missense_Mutation_p.G285R	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GCTGCTTCTGGGGGTGGCCAT	0.637																																						dbGAP											0													34.0	33.0	34.0					22																	40802535		2202	4300	6502	-	-	-	SO:0001583	missense	0			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.1054G>C	22.37:g.40802535G>C	ENSP00000248929:p.Gly352Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom	p.G352R	ENST00000248929.9	37	c.1054	CCDS14002.1	22	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287543	0.23478	.	.	ENSG00000100359	ENST00000248929;ENST00000545416;ENST00000454798	T;T	0.19394	2.15;2.15	5.57	4.54	0.55810	Rab-GAP/TBC domain (1);	0.217404	0.48286	D	0.000182	T	0.13713	0.0332	N	0.17474	0.49	0.43647	D	0.996059	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.0;0.003;0.001	T	0.06373	-1.0830	10	0.19590	T	0.45	.	14.9584	0.71135	0.0:0.4391:0.5609:0.0	.	289;285;352;352	B4DVE3;B4DMS2;Q96HU1-2;Q96HU1	.;.;.;SGSM3_HUMAN	R	352;295;285	ENSP00000248929:G352R;ENSP00000390998:G285R	ENSP00000248929:G352R	G	+	1	0	SGSM3	39132481	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	5.623000	0.67757	1.334000	0.45468	0.467000	0.42956	GGG	SGSM3	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000100359		0.637	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM3	HGNC	protein_coding	OTTHUMT00000321504.2	16	0.00	0	G	NM_015705		40802535	40802535	+1	no_errors	ENST00000248929	ensembl	human	known	69_37n	missense	13	35.00	7	SNP	1.000	C
SIGLEC8	27181	genome.wustl.edu	37	19	51961352	51961352	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr19:51961352T>C	ENST00000321424.3	-	1	356	c.290A>G	c.(289-291)cAa>cGa	p.Q97R	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.Q97R|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.Q97R	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	97	Ig-like V-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCAAGGAGTTGGAATCGGCC	0.562																																						dbGAP											0													187.0	167.0	174.0					19																	51961352		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.290A>G	19.37:g.51961352T>C	ENSP00000321077:p.Gln97Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z728	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q97R	ENST00000321424.3	37	c.290	CCDS33086.1	19	.	.	.	.	.	.	.	.	.	.	.	0.423	-0.907351	0.02434	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.63913	-0.07;-0.07;-0.07	1.91	-3.82	0.04281	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.086870	0.07260	N	0.867416	T	0.33876	0.0878	N	0.11023	0.085	0.09310	N	1	B;B;B	0.30406	0.001;0.278;0.001	B;B;B	0.27380	0.001;0.079;0.01	T	0.08472	-1.0720	10	0.23302	T	0.38	.	3.4513	0.07499	0.5124:0.2778:0.0:0.2099	.	97;97;97	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	R	97	ENSP00000389142:Q97R;ENSP00000321077:Q97R;ENSP00000339448:Q97R	ENSP00000321077:Q97R	Q	-	2	0	SIGLEC8	56653164	0.001000	0.12720	0.001000	0.08648	0.301000	0.27625	-1.322000	0.02695	-2.314000	0.00647	-0.540000	0.04249	CAA	SIGLEC8	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000105366		0.562	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	HGNC	protein_coding	OTTHUMT00000463648.2	302	0.33	1	T	NM_014442		51961352	51961352	-1	no_errors	ENST00000321424	ensembl	human	known	69_37n	missense	165	24.55	54	SNP	0.003	C
SLC6A5	9152	genome.wustl.edu	37	11	20676303	20676303	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr11:20676303C>G	ENST00000525748.1	+	16	2556	c.2283C>G	c.(2281-2283)ttC>ttG	p.F761L	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	761					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GGGGCCCATTCTTAGCTCAAC	0.547																																						dbGAP											0													134.0	129.0	131.0					11																	20676303		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2283C>G	11.37:g.20676303C>G	ENSP00000434364:p.Phe761Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.F761L	ENST00000525748.1	37	c.2283	CCDS7854.1	11	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881737	0.51908	.	.	ENSG00000165970	ENST00000525748	T	0.71222	-0.55	6.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.53642	0.1809	N	0.19112	0.55	0.58432	D	0.999999	B	0.20052	0.041	B	0.24006	0.05	T	0.46679	-0.9174	10	0.11485	T	0.65	.	13.0939	0.59180	0.0:0.8658:0.0:0.1342	.	761	Q9Y345	SC6A5_HUMAN	L	761	ENSP00000434364:F761L	ENSP00000434364:F761L	F	+	3	2	SLC6A5	20632879	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.958000	0.40402	2.873000	0.98535	0.563000	0.77884	TTC	SLC6A5	-	NULL	ENSG00000165970		0.547	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	63	0.00	0	C	NM_004211		20676303	20676303	+1	no_errors	ENST00000525748	ensembl	human	known	69_37n	missense	29	30.95	13	SNP	1.000	G
SLIT2	9353	genome.wustl.edu	37	4	20490503	20490503	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr4:20490503C>T	ENST00000504154.1	+	8	925	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	SLIT2_ENST00000273739.5_Missense_Mutation_p.R225C|SLIT2_ENST00000503837.1_Missense_Mutation_p.R225C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R225C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	225	LRRCT 1.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGACTGGCTTCGCCAAAGGCC	0.493																																						dbGAP											0													149.0	160.0	156.0					4																	20490503		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.673C>T	4.37:g.20490503C>T	ENSP00000422591:p.Arg225Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.R225C	ENST00000504154.1	37	c.673	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	C	13.96	2.391858	0.42410	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.82167	-1.57;-1.58;-1.5;-1.56	5.43	4.58	0.56647	Cysteine-rich flanking region, C-terminal (1);	0.052009	0.85682	D	0.000000	D	0.93739	0.7999	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72982	0.979;0.931	D	0.95569	0.8636	10	0.87932	D	0	.	15.5316	0.75968	0.1394:0.8606:0.0:0.0	.	225;225	O94813-3;O94813	.;SLIT2_HUMAN	C	225	ENSP00000427548:R225C;ENSP00000422591:R225C;ENSP00000273739:R225C;ENSP00000422261:R225C	ENSP00000273739:R225C	R	+	1	0	SLIT2	20099601	1.000000	0.71417	0.994000	0.49952	0.011000	0.07611	3.617000	0.54181	1.273000	0.44346	-0.521000	0.04368	CGC	SLIT2	-	smart_Cys-rich_flank_reg_C	ENSG00000145147		0.493	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	94	0.00	0	C			20490503	20490503	+1	no_errors	ENST00000504154	ensembl	human	known	69_37n	missense	41	32.79	20	SNP	1.000	T
SS18	6760	genome.wustl.edu	37	18	23619391	23619391	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr18:23619391G>C	ENST00000415083.2	-	6	692	c.637C>G	c.(637-639)Cag>Gag	p.Q213E	SS18_ENST00000542743.1_Missense_Mutation_p.Q161E|SS18_ENST00000542420.2_Missense_Mutation_p.Q190E|SS18_ENST00000545952.1_Missense_Mutation_p.Q161E|SS18_ENST00000269137.7_Missense_Mutation_p.Q213E|SS18_ENST00000539849.1_Missense_Mutation_p.Q131E|SS18_ENST00000585241.1_5'UTR	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	213	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.Q213E(1)	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TTGTATTGCTGAGAAGGAGGC	0.408			T	"""SSX1,  SSX2"""	synovial sarcoma																																	dbGAP		Dom	yes		18	18q11.2	6760	"""synovial sarcoma translocation, chromosome 18"""		M	1	Substitution - Missense(1)	lung(1)											166.0	139.0	148.0					18																	23619391		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.637C>G	18.37:g.23619391G>C	ENSP00000414516:p.Gln213Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	pfam_SSXT	p.Q213E	ENST00000415083.2	37	c.637	CCDS32807.1	18	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489882	0.84962	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952	T;T;T;T;T	0.32023	1.51;1.48;1.5;1.47;1.5	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.37489	0.1005	L	0.54323	1.7	0.80722	D	1	B;B;P	0.50369	0.21;0.21;0.934	B;B;P	0.44422	0.031;0.046;0.449	T	0.20371	-1.0277	10	0.52906	T	0.07	-3.3663	19.3412	0.94342	0.0:0.0:1.0:0.0	.	161;213;213	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	E	216;213;213;190;161;131;161	ENSP00000269137:Q213E;ENSP00000438066:Q190E;ENSP00000444551:Q161E;ENSP00000444647:Q131E;ENSP00000443097:Q161E	ENSP00000269137:Q213E	Q	-	1	0	SS18	21873389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.398000	0.97281	2.657000	0.90304	0.655000	0.94253	CAG	SS18	-	NULL	ENSG00000141380		0.408	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SS18	HGNC	protein_coding	OTTHUMT00000446226.1	150	0.00	0	G			23619391	23619391	-1	no_errors	ENST00000415083	ensembl	human	known	69_37n	missense	38	43.28	29	SNP	1.000	C
TMCC3	57458	genome.wustl.edu	37	12	94975411	94975411	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr12:94975411C>G	ENST00000261226.4	-	2	1113	c.982G>C	c.(982-984)Gag>Cag	p.E328Q	TMCC3_ENST00000551457.1_Missense_Mutation_p.E297Q	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	328						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TATCTTTCCTCTTGCAGGGTC	0.333																																						dbGAP											0													54.0	53.0	53.0					12																	94975411		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.982G>C	12.37:g.94975411C>G	ENSP00000261226:p.Glu328Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWB2	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2	p.E328Q	ENST00000261226.4	37	c.982	CCDS31877.1	12	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546797	0.86022	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.57752	0.38;0.38	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.77116	0.4083	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78831	-0.2049	10	0.87932	D	0	-54.8994	20.3437	0.98782	0.0:1.0:0.0:0.0	.	328	Q9ULS5	TMCC3_HUMAN	Q	328;297	ENSP00000261226:E328Q;ENSP00000449888:E297Q	ENSP00000261226:E328Q	E	-	1	0	TMCC3	93499542	1.000000	0.71417	0.998000	0.56505	0.920000	0.55202	7.818000	0.86416	2.815000	0.96918	0.561000	0.74099	GAG	TMCC3	-	pfam_Predicted_TM_coiled-coil_2	ENSG00000057704		0.333	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC3	HGNC	protein_coding	OTTHUMT00000408113.1	35	0.00	0	C	NM_020698		94975411	94975411	-1	no_errors	ENST00000261226	ensembl	human	known	69_37n	missense	28	20.00	7	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576		TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr17:7577120C>A	ENST00000269305.4	-	8	1007	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	-	-	-	SO:0001583	missense	0	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.818G>T	17.37:g.7577120C>A	ENSP00000269305:p.Arg273Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273L	ENST00000269305.4	37	c.818	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554800	0.86231	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.92	4.92	0.64577	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	0.99871	0.9939	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.77557	0.988;0.987;0.99;0.986	D	0.96378	0.9279	10	0.87932	D	0	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	L	273;273;273;273;273;262;141	ENSP00000352610:R273L;ENSP00000269305:R273L;ENSP00000398846:R273L;ENSP00000391127:R273L;ENSP00000391478:R273L;ENSP00000425104:R141L	ENSP00000269305:R273L	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	95	0.00	0	C	NM_000546		7577120	7577120	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	16	44.83	13	SNP	0.864	A
TTN	7273	genome.wustl.edu	37	2	179426582	179426582	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr2:179426582C>T	ENST00000591111.1	-	276	79578	c.79354G>A	c.(79354-79356)Gaa>Aaa	p.E26452K	TTN_ENST00000342175.6_Missense_Mutation_p.E19220K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19153K|TTN_ENST00000589042.1_Missense_Mutation_p.E28093K|TTN_ENST00000460472.2_Missense_Mutation_p.E19028K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E25525K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26452	Fibronectin type-III 92. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTCTTTTCAACAATGTAA	0.393																																						dbGAP											0													52.0	50.0	51.0					2																	179426582		1886	4118	6004	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79354G>A	2.37:g.179426582C>T	ENSP00000465570:p.Glu26452Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E25525K	ENST00000591111.1	37	c.76573		2	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297915	0.60086	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83069	0.5174	H	0.96365	3.81	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	D	0.86899	0.2053	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	19028;19153;19220;26452	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	25525;19028;19220;19153;19026	ENSP00000343764:E25525K;ENSP00000434586:E19028K;ENSP00000340554:E19220K;ENSP00000352154:E19153K	ENSP00000340554:E19220K	E	-	1	0	TTN	179134828	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	59	0.00	0	C	NM_133378		179426582	179426582	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	36	12.20	5	SNP	1.000	T
UPK1A	11045	genome.wustl.edu	37	19	36164378	36164378	+	Silent	SNP	G	G	C			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr19:36164378G>C	ENST00000222275.2	+	4	399	c.399G>C	c.(397-399)ctG>ctC	p.L133L	UPK1A_ENST00000379013.2_Silent_p.L133L|UPK1A-AS1_ENST00000443196.1_RNA	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	133					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCAGATGCTGACCTTCTACA	0.657																																						dbGAP											0													50.0	46.0	48.0					19																	36164378		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.399G>C	19.37:g.36164378G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KNU5|Q3KNU6	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L133	ENST00000222275.2	37	c.399	CCDS12470.1	19																																																																																			UPK1A	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000105668		0.657	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK1A	HGNC	protein_coding	OTTHUMT00000109486.3	19	0.00	0	G			36164378	36164378	+1	no_errors	ENST00000379013	ensembl	human	known	69_37n	silent	10	37.50	6	SNP	1.000	C
WDYHV1	55093	genome.wustl.edu	37	8	124442245	124442245	+	Missense_Mutation	SNP	C	C	G	rs142035420	byFrequency	TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr8:124442245C>G	ENST00000287387.2	+	3	331	c.206C>G	c.(205-207)gCg>gGg	p.A69G	WDYHV1_ENST00000518125.1_5'UTR|WDYHV1_ENST00000523984.1_Missense_Mutation_p.A9G|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523356.1_Missense_Mutation_p.A69G	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	69					cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						AAACAACAGGCGAGACCTGGA	0.353																																						dbGAP											0													113.0	115.0	114.0					8																	124442245		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 32"""	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.206C>G	8.37:g.124442245C>G	ENSP00000287387:p.Ala69Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DE68|Q9NW95	Missense_Mutation	SNP	pfam_Prot_N_Gln_amidohydro_ab_roll	p.A69G	ENST00000287387.2	37	c.206	CCDS6344.1	8	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973897	0.74246	.	.	ENSG00000156795	ENST00000287387;ENST00000523984;ENST00000522194;ENST00000523356	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	6.17	5.3	0.74995	Protein N-terminal glutamine amidohydrolase, alpha beta roll (1);Protein N-terminal glutamine amidohydrolase (1);	0.102739	0.64402	D	0.000002	T	0.33030	0.0849	M	0.83223	2.63	0.80722	D	1	B	0.29270	0.24	B	0.32724	0.151	T	0.17899	-1.0354	10	0.66056	D	0.02	-14.7212	14.4829	0.67594	0.0:0.9292:0.0:0.0708	.	69	Q96HA8	NTAQ1_HUMAN	G	69;9;69;69	ENSP00000287387:A69G;ENSP00000430427:A9G;ENSP00000434252:A69G;ENSP00000428615:A69G	ENSP00000287387:A69G	A	+	2	0	WDYHV1	124511426	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	5.949000	0.70257	1.635000	0.50512	0.655000	0.94253	GCG	WDYHV1	-	pfam_Prot_N_Gln_amidohydro_ab_roll	ENSG00000156795		0.353	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDYHV1	HGNC	protein_coding	OTTHUMT00000381772.1	115	0.00	0	C	NM_018024		124442245	124442245	+1	no_errors	ENST00000287387	ensembl	human	known	69_37n	missense	63	26.74	23	SNP	1.000	G
XIRP2	129446	genome.wustl.edu	37	2	168107692	168107692	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A26W-01A-11D-A16D-09	TCGA-C8-A26W-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3db354e-f22c-4576-a7d7-6515f1c11002	327119a0-07dd-46c3-8b02-733bfaa5f959	g.chr2:168107692A>G	ENST00000409195.1	+	9	9879	c.9790A>G	c.(9790-9792)Aaa>Gaa	p.K3264E	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K3264E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K3042E|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3089				S -> L (in Ref. 8; CAD91141). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAAATCAGGAAAGTGGAGAA	0.423																																						dbGAP											0													70.0	66.0	67.0					2																	168107692		1909	4139	6048	-	-	-	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9790A>G	2.37:g.168107692A>G	ENSP00000386840:p.Lys3264Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.K3264E	ENST00000409195.1	37	c.9790	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	A	9.639	1.138493	0.21123	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.03689	3.85;3.85;3.84	5.61	3.2	0.36748	.	0.200250	0.50627	D	0.000105	T	0.05318	0.0141	M	0.70275	2.135	0.40451	D	0.980146	P;P;B	0.38827	0.518;0.649;0.275	B;B;B	0.35182	0.097;0.197;0.117	T	0.32025	-0.9922	10	0.51188	T	0.08	-13.299	7.398	0.26948	0.6351:0.2919:0.073:0.0	.	3089;3089;3042	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	3264;3264;3042;678	ENSP00000386840:K3264E;ENSP00000295237:K3264E;ENSP00000387255:K3042E	ENSP00000295237:K3264E	K	+	1	0	XIRP2	167815938	0.981000	0.34729	0.862000	0.33874	0.168000	0.22595	1.308000	0.33528	0.479000	0.27511	0.377000	0.23210	AAA	XIRP2	-	NULL	ENSG00000163092		0.423	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	37	0.00	0	A	NM_152381		168107692	168107692	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	0.998	G
