#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
ACP5	54	genome.wustl.edu	37	19	11686061	11686061	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr19:11686061G>C	ENST00000592828.1	-	7	1144	c.742C>G	c.(742-744)Caa>Gaa	p.Q248E	ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.Q248E|ACP5_ENST00000218758.5_Missense_Mutation_p.Q248E|ZNF627_ENST00000588651.1_Intron|ACP5_ENST00000412435.2_Missense_Mutation_p.Q248E	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	248					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						TTCTCATCTTGCAGGTACTGA	0.592																																						dbGAP											0													46.0	35.0	39.0					19																	11686061		2203	4300	6503	-	-	-	SO:0001583	missense	0			X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"""tartrate-resistant acid phosphatase"""	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.742C>G	19.37:g.11686061G>C	ENSP00000468767:p.Gln248Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom	p.Q248E	ENST00000592828.1	37	c.742	CCDS12265.1	19	.	.	.	.	.	.	.	.	.	.	G	6.192	0.403502	0.11754	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	T;T;T	0.69561	-0.41;-0.41;-0.41	4.6	3.52	0.40303	.	0.196398	0.44483	D	0.000445	T	0.62527	0.2435	M	0.67953	2.075	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.60850	-0.7181	10	0.27082	T	0.32	-23.6648	13.1717	0.59602	0.0:0.0:0.8062:0.1937	.	248	P13686	PPA5_HUMAN	E	248	ENSP00000218758:Q248E;ENSP00000392374:Q248E;ENSP00000413456:Q248E	ENSP00000218758:Q248E	Q	-	1	0	ACP5	11547061	1.000000	0.71417	0.986000	0.45419	0.178000	0.23041	1.893000	0.39758	2.107000	0.64212	0.555000	0.69702	CAA	ACP5	-	NULL	ENSG00000102575		0.592	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACP5	HGNC	protein_coding	OTTHUMT00000458881.1	33	0.00	0	G			11686061	11686061	-1	no_errors	ENST00000218758	ensembl	human	known	69_37n	missense	8	42.86	6	SNP	0.803	C
AHNAK	79026	genome.wustl.edu	37	11	62288240	62288240	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr11:62288240C>G	ENST00000378024.4	-	5	13923	c.13649G>C	c.(13648-13650)gGt>gCt	p.G4550A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4550					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACTTTGGGACCTTTCAGATC	0.423																																						dbGAP											0													79.0	76.0	77.0					11																	62288240		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13649G>C	11.37:g.62288240C>G	ENSP00000367263:p.Gly4550Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G4550A	ENST00000378024.4	37	c.13649	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	C	5.293	0.239406	0.10023	.	.	ENSG00000124942	ENST00000378024	T	0.02944	4.1	4.69	2.65	0.31530	.	1.559740	0.04233	N	0.335512	T	0.07503	0.0189	M	0.76170	2.325	0.09310	N	1	P	0.43750	0.816	B	0.44044	0.439	T	0.50136	-0.8863	10	0.08381	T	0.77	.	13.4431	0.61125	0.2818:0.7182:0.0:0.0	.	4550	Q09666	AHNK_HUMAN	A	4550	ENSP00000367263:G4550A	ENSP00000367263:G4550A	G	-	2	0	AHNAK	62044816	0.000000	0.05858	0.677000	0.29947	0.729000	0.41735	-0.479000	0.06567	1.075000	0.40932	0.643000	0.83706	GGT	AHNAK	-	NULL	ENSG00000124942		0.423	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	225	0.00	0	C	NM_024060		62288240	62288240	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	47	28.79	19	SNP	0.066	G
ARHGEF6	9459	genome.wustl.edu	37	X	135764932	135764932	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chrX:135764932A>T	ENST00000250617.6	-	13	2669	c.1464T>A	c.(1462-1464)agT>agA	p.S488R	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.S334R|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.S334R|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.S361R	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	488	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AGATAAAGCCACTCATCCGAG	0.378																																						dbGAP											0													113.0	100.0	104.0					X																	135764932		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1464T>A	X.37:g.135764932A>T	ENSP00000250617:p.Ser488Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin	p.S488R	ENST00000250617.6	37	c.1464	CCDS14660.1	X	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488465	0.64074	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.4	0.585	0.17428	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.87462	0.6183	M	0.88377	2.95	0.58432	D	0.999999	P;D	0.89917	0.945;1.0	D;D	0.91635	0.943;0.999	D	0.86791	0.1985	10	0.72032	D	0.01	.	10.1558	0.42823	0.6465:0.0:0.3535:0.0	.	361;488	B7Z3C7;Q15052	.;ARHG6_HUMAN	R	488;334;334;334;361	ENSP00000250617:S488R;ENSP00000359654:S334R;ENSP00000359656:S334R;ENSP00000439483:S361R	ENSP00000250617:S488R	S	-	3	2	ARHGEF6	135592598	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.996000	0.40776	0.236000	0.21180	0.486000	0.48141	AGT	ARHGEF6	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000129675		0.378	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF6	HGNC	protein_coding	OTTHUMT00000058511.2	347	0.00	0	A	NM_004840		135764932	135764932	-1	no_errors	ENST00000250617	ensembl	human	known	69_37n	missense	86	56.50	113	SNP	1.000	T
ARL11	115761	genome.wustl.edu	37	13	50204809	50204809	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr13:50204809G>A	ENST00000282026.1	+	2	561	c.226G>A	c.(226-228)Gac>Aac	p.D76N	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	76					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		CAGCTGGAAGGACTATCTGGA	0.592																																						dbGAP											0													71.0	70.0	70.0					13																	50204809		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.226G>A	13.37:g.50204809G>A	ENSP00000282026:p.Asp76Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	p.D76N	ENST00000282026.1	37	c.226	CCDS9419.1	13	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712220	0.48517	.	.	ENSG00000152213	ENST00000282026	T	0.62232	0.04	5.52	4.68	0.58851	Small GTP-binding protein domain (1);	0.305432	0.35936	N	0.002895	T	0.43590	0.1254	N	0.17345	0.48	0.28591	N	0.909638	B	0.29232	0.238	B	0.28011	0.085	T	0.46020	-0.9221	10	0.87932	D	0	-16.8764	7.6688	0.28447	0.1502:0.137:0.7127:0.0	.	76	Q969Q4	ARL11_HUMAN	N	76	ENSP00000282026:D76N	ENSP00000282026:D76N	D	+	1	0	ARL11	49102810	0.974000	0.33945	1.000000	0.80357	0.912000	0.54170	0.340000	0.19892	1.334000	0.45468	0.655000	0.94253	GAC	ARL11	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	ENSG00000152213		0.592	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL11	HGNC	protein_coding	OTTHUMT00000044929.2	38	0.00	0	G	NM_138450		50204809	50204809	+1	no_errors	ENST00000282026	ensembl	human	known	69_37n	missense	10	58.33	14	SNP	1.000	A
ATHL1	80162	genome.wustl.edu	37	11	290714	290715	+	Frame_Shift_Ins	INS	-	-	G	rs149921679	byFrequency	TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr11:290714_290715insG	ENST00000409548.2	+	4	622_623	c.507_508insG	c.(508-510)gggfs	p.G170fs	RP11-326C3.2_ENST00000534742.1_RNA|RP11-326C3.2_ENST00000533924.1_RNA|RP11-326C3.2_ENST00000525217.1_RNA|ATHL1_ENST00000409479.1_Frame_Shift_Ins_p.G170fs|ATHL1_ENST00000409655.1_5'UTR	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	170					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTGAGCAGCCCGGGGGGCCACA	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.513dupG	11.37:g.290720_290720dupG	ENSP00000387185:p.Gly170fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658X8|Q8TEG9|Q9H635	Frame_Shift_Ins	INS	pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like	p.P171fs	ENST00000409548.2	37	c.507_508	CCDS31322.2	11																																																																																			ATHL1	-	NULL	ENSG00000142102		0.634	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATHL1	HGNC	protein_coding	OTTHUMT00000330164.3	25	0.00	0	-	NM_025092		290714	290715	+1	no_errors	ENST00000409548	ensembl	human	known	69_37n	frame_shift_ins	13	18.75	3	INS	0.850:0.999	G
ATP1A3	478	genome.wustl.edu	37	19	42482310	42482310	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr19:42482310C>T	ENST00000302102.5	-	13	1949	c.1799G>A	c.(1798-1800)gGc>gAc	p.G600D	ATP1A3_ENST00000545399.1_Missense_Mutation_p.G613D|ATP1A3_ENST00000602133.1_Missense_Mutation_p.G570D|ATP1A3_ENST00000543770.1_Missense_Mutation_p.G611D	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	600					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CACCTTGATGCCTGCGCTGCG	0.627																																						dbGAP											0													63.0	64.0	64.0					19																	42482310		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1799G>A	19.37:g.42482310C>T	ENSP00000302397:p.Gly600Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.G613D	ENST00000302102.5	37	c.1838	CCDS12594.1	19	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759425	0.89932	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	4.44	4.44	0.53790	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96065	0.8718	H	0.98682	4.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.97431	1.0015	10	0.87932	D	0	.	14.9849	0.71339	0.0:1.0:0.0:0.0	.	613;611;600;600	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	D	600;600;613;570;344;611	ENSP00000302397:G600D;ENSP00000411503:G600D;ENSP00000444688:G613D;ENSP00000437577:G611D	ENSP00000302397:G600D	G	-	2	0	ATP1A3	47174150	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.554000	0.82212	2.478000	0.83669	0.561000	0.74099	GGC	ATP1A3	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000105409		0.627	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	HGNC	protein_coding	OTTHUMT00000268107.1	292	0.00	0	C	NM_152296		42482310	42482310	-1	no_errors	ENST00000545399	ensembl	human	known	69_37n	missense	159	35.89	89	SNP	1.000	T
BCL9	607	genome.wustl.edu	37	1	147092484	147092487	+	Frame_Shift_Del	DEL	GGGG	GGGG	-			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	GGGG	GGGG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr1:147092484_147092487delGGGG	ENST00000234739.3	+	8	3263_3266	c.2523_2526delGGGG	c.(2521-2526)ctggggfs	p.LG841fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	841	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.R843fs*22(1)|p.L841L(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGCGCGGCCTGGGGCGGAAGCCCT	0.578			T	"""IGH@, IGL@"""	B-ALL																																	dbGAP		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	2	Substitution - coding silent(1)|Insertion - Frameshift(1)	breast(1)|endometrium(1)																																								-	-	-	SO:0001589	frameshift_variant	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2523_2526delGGGG	1.37:g.147092484_147092487delGGGG	ENSP00000234739:p.Leu841fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T489	Frame_Shift_Del	DEL	pfam_BCL9_beta-catenin-bd_dom	p.R843fs	ENST00000234739.3	37	c.2523_2526	CCDS30833.1	1																																																																																			BCL9	-	NULL	ENSG00000116128		0.578	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	209	0.00	0	GGGG	NM_004326		147092484	147092487	+1	no_errors	ENST00000234739	ensembl	human	known	69_37n	frame_shift_del	158	25.35	55	DEL	1.000:1.000:1.000:0.967	-
BCL9	607	genome.wustl.edu	37	1	147092488	147092488	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr1:147092488C>T	ENST00000234739.3	+	8	3267	c.2527C>T	c.(2527-2529)Cgg>Tgg	p.R843W		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	843	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.R843fs*22(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CGGCCTGGGGCGGAAGCCCTT	0.577			T	"""IGH@, IGL@"""	B-ALL																																	dbGAP		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	1	Insertion - Frameshift(1)	breast(1)											64.0	61.0	62.0					1																	147092488		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2527C>T	1.37:g.147092488C>T	ENSP00000234739:p.Arg843Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T489	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.R843W	ENST00000234739.3	37	c.2527	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136572	0.56936	.	.	ENSG00000116128	ENST00000234739	T	0.69175	-0.38	5.36	5.36	0.76844	.	0.056854	0.64402	D	0.000001	T	0.62768	0.2455	L	0.34521	1.04	0.53688	D	0.999977	D;D	0.76494	0.999;0.999	P;P	0.57846	0.828;0.828	T	0.67581	-0.5634	10	0.87932	D	0	-10.1966	14.1521	0.65392	0.1497:0.8503:0.0:0.0	.	843;843	Q1JQ81;O00512	.;BCL9_HUMAN	W	843	ENSP00000234739:R843W	ENSP00000234739:R843W	R	+	1	2	BCL9	145559112	1.000000	0.71417	0.995000	0.50966	0.547000	0.35210	5.772000	0.68889	2.782000	0.95742	0.655000	0.94253	CGG	BCL9	-	NULL	ENSG00000116128		0.577	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	208	0.00	0	C	NM_004326		147092488	147092488	+1	no_errors	ENST00000234739	ensembl	human	known	69_37n	missense	152	27.62	58	SNP	1.000	T
BPIFA2	140683	genome.wustl.edu	37	20	31757009	31757009	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr20:31757009T>C	ENST00000253362.2	+	2	204	c.58T>C	c.(58-60)Tct>Cct	p.S20P	BPIFA2_ENST00000354932.5_Missense_Mutation_p.S20P			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	20						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										GACCTCAGAGTCTCTTCTTGA	0.478																																						dbGAP											0													184.0	157.0	166.0					20																	31757009		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"""BPI fold containing"""	16203	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 70"""	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.58T>C	20.37:g.31757009T>C	ENSP00000253362:p.Ser20Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQQ0	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	p.S20P	ENST00000253362.2	37	c.58	CCDS13214.1	20	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851032	0.51270	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.14893	2.47;2.47	4.58	-0.676	0.11361	.	1.186910	0.06115	N	0.667892	T	0.36138	0.0956	M	0.74258	2.255	0.09310	N	1	D	0.64830	0.994	P	0.56474	0.799	T	0.45071	-0.9286	10	0.56958	D	0.05	-16.4898	12.1385	0.53984	0.0:0.0:0.6336:0.3664	.	20	Q96DR5	BPIA2_HUMAN	P	20	ENSP00000253362:S20P;ENSP00000347012:S20P	ENSP00000253362:S20P	S	+	1	0	BPIFA2	31220670	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	-0.076000	0.11412	-0.127000	0.11661	-0.313000	0.08912	TCT	BPIFA2	-	NULL	ENSG00000131050		0.478	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BPIFA2	HGNC	protein_coding	OTTHUMT00000257117.1	128	0.00	0	T	NM_080574		31757009	31757009	+1	no_errors	ENST00000253362	ensembl	human	known	69_37n	missense	73	12.05	10	SNP	0.000	C
CFAP54	144535	genome.wustl.edu	37	12	97043730	97043733	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	ACAA	ACAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr12:97043730_97043733delACAA	ENST00000524981.4	+	35	4775_4778	c.4752_4755delACAA	c.(4750-4755)acacaafs	p.TQ1584fs				Q96N23	CL055_HUMAN		201																	TGTCCAAGACACAAACAGTTTATG	0.299																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0																														ENST00000524981.4:c.4752_4755delACAA	12.37:g.97043730_97043733delACAA	ENSP00000431759:p.Thr1584fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	NULL	p.T11fs	ENST00000524981.4	37	c.27_30		12																																																																																			C12orf55	-	NULL	ENSG00000188596		0.299	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	270	0.00	0	ACAA			97043730	97043733	+1	no_errors	ENST00000342887	ensembl	human	known	69_37n	frame_shift_del	85	42.95	64	DEL	0.000:0.000:0.000:0.000	-
C1orf54	79630	genome.wustl.edu	37	1	150246528	150246528	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr1:150246528G>A	ENST00000369102.1	+	4	855	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	C1orf54_ENST00000369099.3_Missense_Mutation_p.E29K|C1orf54_ENST00000369098.3_Missense_Mutation_p.E29K			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	29						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGAGAGGATGAATATTATCA	0.448																																						dbGAP											0													171.0	175.0	174.0					1																	150246528		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017761	CCDS948.1, CCDS72905.1	1q21.2	2012-06-25			ENSG00000118292	ENSG00000118292			26258	protein-coding gene	gene with protein product						12477932	Standard	NM_024579		Approved	FLJ23221	uc001eud.3	Q8WWF1	OTTHUMG00000012546	ENST00000369102.1:c.85G>A	1.37:g.150246528G>A	ENSP00000358098:p.Glu29Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H5P3	Missense_Mutation	SNP	NULL	p.E29K	ENST00000369102.1	37	c.85	CCDS948.1	1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702357	0.48307	.	.	ENSG00000118292	ENST00000369102;ENST00000369099;ENST00000369098	.	.	.	4.9	2.95	0.34219	.	1.529920	0.03895	N	0.279386	T	0.20901	0.0503	L	0.46157	1.445	0.09310	N	1	P;P	0.37330	0.557;0.59	B;B	0.36378	0.172;0.223	T	0.29150	-1.0021	9	0.40728	T	0.16	-0.0987	10.2035	0.43099	0.0:0.0:0.6389:0.3611	.	29;29	Q5TB16;Q8WWF1	.;CA054_HUMAN	K	29	.	ENSP00000358094:E29K	E	+	1	0	C1orf54	148513152	0.288000	0.24324	0.013000	0.15412	0.598000	0.36846	1.249000	0.32839	0.717000	0.32145	-0.182000	0.12963	GAA	C1orf54	-	NULL	ENSG00000118292		0.448	C1orf54-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf54	HGNC	protein_coding	OTTHUMT00000035055.1	163	0.00	0	G	NM_024579		150246528	150246528	+1	no_errors	ENST00000369099	ensembl	human	known	69_37n	missense	106	21.48	29	SNP	0.024	A
CFAP61	26074	genome.wustl.edu	37	20	20232263	20232263	+	Silent	SNP	T	T	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr20:20232263T>C	ENST00000245957.5	+	20	2260	c.2184T>C	c.(2182-2184)taT>taC	p.Y728Y	C20orf26_ENST00000389656.3_Silent_p.Y84Y|C20orf26_ENST00000377293.1_Silent_p.Y84Y|C20orf26_ENST00000377309.2_Silent_p.Y84Y	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		728										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATAAAGATTATGCACTGATGT	0.498																																						dbGAP											0													193.0	168.0	177.0					20																	20232263		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000245957.5:c.2184T>C	20.37:g.20232263T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	superfamily_Acyl_CoA_acyltransferase	p.Y728	ENST00000245957.5	37	c.2184	CCDS33447.1	20																																																																																			C20orf26	-	NULL	ENSG00000089101		0.498	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	HGNC	protein_coding	OTTHUMT00000078228.3	140	0.00	0	T			20232263	20232263	+1	no_errors	ENST00000245957	ensembl	human	known	69_37n	silent	50	41.86	36	SNP	0.997	C
C20orf85	128602	genome.wustl.edu	37	20	56735726	56735727	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr20:56735726_56735727insC	ENST00000371168.3	+	4	323_324	c.262_263insC	c.(262-264)tccfs	p.S88fs		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	88										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GGTCTTTCCATCCCCCCCAGTC	0.579																																						dbGAP											0										5,4259		0,5,2127						5.1	0.2		dbSNP_126	44	5,8249		0,5,4122	no	frameshift	C20orf85	NM_178456.2		0,10,6249	A1A1,A1R,RR		0.0606,0.1173,0.0799				10,12508				-	-	-	SO:0001589	frameshift_variant	0			AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.269dupC	20.37:g.56735733_56735733dupC	ENSP00000360210:p.Ser88fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	NULL	p.V91fs	ENST00000371168.3	37	c.262_263	CCDS13465.1	20																																																																																			C20orf85	-	NULL	ENSG00000124237		0.579	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf85	HGNC	protein_coding	OTTHUMT00000079866.2	49	0.00	0	-	NM_178456		56735726	56735727	+1	no_errors	ENST00000371168	ensembl	human	known	69_37n	frame_shift_ins	34	10.53	4	INS	0.675:0.687	C
C7orf62	219557	genome.wustl.edu	37	7	88424032	88424032	+	Silent	SNP	T	T	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr7:88424032T>A	ENST00000297203.2	-	2	410	c.225A>T	c.(223-225)tcA>tcT	p.S75S	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	75										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GTTTCAAAACTGACTGAAACA	0.408																																						dbGAP											0													109.0	104.0	106.0					7																	88424032		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.225A>T	7.37:g.88424032T>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.S75	ENST00000297203.2	37	c.225	CCDS34678.1	7																																																																																			C7orf62	-	NULL	ENSG00000164645		0.408	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf62	HGNC	protein_coding	OTTHUMT00000332714.1	402	0.00	0	T	NM_152706		88424032	88424032	-1	no_errors	ENST00000297203	ensembl	human	known	69_37n	silent	140	33.33	70	SNP	0.000	A
C9orf43	257169	genome.wustl.edu	37	9	116191234	116191234	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr9:116191234A>C	ENST00000288462.4	+	13	1608	c.1162A>C	c.(1162-1164)Agt>Cgt	p.S388R	C9orf43_ENST00000374165.1_Missense_Mutation_p.S388R	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	388										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TTTCCACCACAGTGTAAAAAG	0.418																																						dbGAP											0													98.0	91.0	93.0					9																	116191234		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.1162A>C	9.37:g.116191234A>C	ENSP00000288462:p.Ser388Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S388R	ENST00000288462.4	37	c.1162	CCDS6796.1	9	.	.	.	.	.	.	.	.	.	.	A	10.19	1.281962	0.23392	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.56611	0.45;0.45	4.12	-1.31	0.09230	.	2.015470	0.02220	N	0.063979	T	0.36386	0.0965	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.23762	-1.0179	10	0.66056	D	0.02	16.0615	0.5482	0.00657	0.4508:0.1775:0.2001:0.1716	.	388	Q8TAL5	CI043_HUMAN	R	388	ENSP00000363280:S388R;ENSP00000288462:S388R	ENSP00000288462:S388R	S	+	1	0	C9orf43	115231055	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.822000	0.04448	-0.217000	0.10033	0.383000	0.25322	AGT	C9orf43	-	NULL	ENSG00000157653		0.418	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C9orf43	HGNC	protein_coding	OTTHUMT00000053739.1	316	0.00	0	A	NM_152786		116191234	116191234	+1	no_errors	ENST00000288462	ensembl	human	known	69_37n	missense	103	33.76	53	SNP	0.000	C
CECR1	51816	genome.wustl.edu	37	22	17690423	17690424	+	Frame_Shift_Ins	INS	-	-	C	rs199614299		TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr22:17690423_17690424insC	ENST00000399839.1	-	2	414_415	c.144_145insG	c.(142-147)gggcggfs	p.R49fs	CECR1_ENST00000399837.2_Frame_Shift_Ins_p.R49fs|CECR1_ENST00000449907.2_Frame_Shift_Ins_p.R7fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.R49fs	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	49	Dimerization.				adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				AGCACCAGCCGCCCCCCCAGCC	0.54																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.145dupG	22.37:g.17690430_17690430dupC	ENSP00000382733:p.Arg49fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Frame_Shift_Ins	INS	pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like	p.R48fs	ENST00000399839.1	37	c.145_144	CCDS13742.1	22																																																																																			CECR1	-	pfam_A_deaminase_N,tigrfam_Ad_deam-like	ENSG00000093072		0.540	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CECR1	HGNC	protein_coding	OTTHUMT00000316079.1	70	0.00	0	-			17690423	17690424	-1	no_errors	ENST00000262607	ensembl	human	known	69_37n	frame_shift_ins	41	10.87	5	INS	0.036:0.052	C
CES5A	221223	genome.wustl.edu	37	16	55903634	55903634	+	Missense_Mutation	SNP	C	C	T	rs563233890		TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr16:55903634C>T	ENST00000290567.9	-	4	561	c.440G>A	c.(439-441)gGt>gAt	p.G147D	CES5A_ENST00000520435.1_Missense_Mutation_p.G117D|CES5A_ENST00000518005.1_Missense_Mutation_p.G41D|CES5A_ENST00000521992.1_Missense_Mutation_p.G176D|CES5A_ENST00000319165.9_Missense_Mutation_p.G147D|CES5A_ENST00000541580.1_Intron	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	147						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTTGAAGGCACCTCCTGGGAA	0.587																																						dbGAP											0													66.0	47.0	54.0					16																	55903634		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.440G>A	16.37:g.55903634C>T	ENSP00000290567:p.Gly147Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.G176D	ENST00000290567.9	37	c.527	CCDS45490.1	16	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405166	0.62288	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000536025	T;T;T;T;T;D	0.83992	-0.34;-0.34;-0.34;-0.34;-0.34;-1.79	4.94	4.94	0.65067	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000012	D	0.94535	0.8240	H	0.98111	4.15	0.58432	D	0.999994	D;D	0.89917	1.0;0.975	D;P	0.97110	1.0;0.888	D	0.96468	0.9346	10	0.87932	D	0	.	16.0398	0.80654	0.0:1.0:0.0:0.0	.	147;147	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	D	176;147;41;147;117;41	ENSP00000428864:G176D;ENSP00000324271:G147D;ENSP00000428571:G41D;ENSP00000290567:G147D;ENSP00000428887:G117D;ENSP00000439810:G41D	ENSP00000290567:G147D	G	-	2	0	CES5A	54461135	0.999000	0.42202	0.655000	0.29622	0.045000	0.14185	5.220000	0.65267	2.440000	0.82611	0.557000	0.71058	GGT	CES5A	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000159398		0.587	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES5A	HGNC	protein_coding	OTTHUMT00000256975.3	127	0.00	0	C	NM_145024		55903634	55903634	-1	no_errors	ENST00000521992	ensembl	human	known	69_37n	missense	95	29.10	39	SNP	1.000	T
CHRM1	1128	genome.wustl.edu	37	11	62678402	62678402	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr11:62678402C>A	ENST00000306960.3	-	2	712	c.171G>T	c.(169-171)aaG>aaT	p.K57N	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	57					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	TATTGACTGTCTTGAGCTCCG	0.537																																						dbGAP											0													137.0	113.0	121.0					11																	62678402		2201	4298	6499	-	-	-	SO:0001583	missense	0			Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1950	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 1"""	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.171G>T	11.37:g.62678402C>A	ENSP00000306490:p.Lys57Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96RH1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Musac_M1_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.K57N	ENST00000306960.3	37	c.171	CCDS8040.1	11	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153880	0.57259	.	.	ENSG00000168539	ENST00000306960;ENST00000543973;ENST00000536524	T;T;T	0.39056	1.1;1.1;1.1	4.5	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.095354	0.40908	D	0.000981	T	0.51143	0.1657	M	0.69358	2.11	0.42263	D	0.992021	D	0.61697	0.99	P	0.56343	0.796	T	0.54173	-0.8333	10	0.87932	D	0	-20.4768	6.6805	0.23117	0.0:0.7914:0.0:0.2086	.	57	P11229	ACM1_HUMAN	N	57	ENSP00000306490:K57N;ENSP00000441188:K57N;ENSP00000444482:K57N	ENSP00000306490:K57N	K	-	3	2	CHRM1	62434978	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.646000	0.24797	1.117000	0.41842	0.467000	0.42956	AAG	CHRM1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000168539		0.537	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM1	HGNC	protein_coding	OTTHUMT00000396178.1	365	0.27	1	C	NM_000738		62678402	62678402	-1	no_errors	ENST00000306960	ensembl	human	known	69_37n	missense	138	33.97	71	SNP	1.000	A
CHRNA1	1134	genome.wustl.edu	37	2	175618463	175618463	+	Silent	SNP	G	G	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr2:175618463G>A	ENST00000261007.5	-	7	687	c.621C>T	c.(619-621)agC>agT	p.S207S	CHRNA1_ENST00000409219.1_Silent_p.S182S|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409323.1_Silent_p.S182S|CHRNA1_ENST00000409542.1_Silent_p.S100S|CHRNA1_ENST00000348749.5_Silent_p.S182S	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	207					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	CTGGCTGGTCGCTTTCCTGAG	0.572																																						dbGAP											0													47.0	46.0	47.0					2																	175618463		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.621C>T	2.37:g.175618463G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRV6|D3DPE8	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.S207	ENST00000261007.5	37	c.621	CCDS33331.1	2																																																																																			CHRNA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd	ENSG00000138435		0.572	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	CHRNA1	HGNC	protein_coding	OTTHUMT00000334116.1	226	0.00	0	G			175618463	175618463	-1	no_errors	ENST00000261007	ensembl	human	known	69_37n	silent	79	42.34	58	SNP	0.323	A
CLUL1	27098	genome.wustl.edu	37	18	618071	618071	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr18:618071G>C	ENST00000400606.2	+	2	216	c.71G>C	c.(70-72)tGg>tCg	p.W24S	CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000540035.1_Missense_Mutation_p.W76S|CLUL1_ENST00000338387.7_Missense_Mutation_p.W24S|CLUL1_ENST00000581619.1_Missense_Mutation_p.W49S|CLUL1_ENST00000579494.1_Missense_Mutation_p.W24S	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	24					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						GCACCCACTTGGAAGGACAAA	0.453																																						dbGAP											0													135.0	136.0	136.0					18																	618071		2013	4188	6201	-	-	-	SO:0001583	missense	0			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.71G>C	18.37:g.618071G>C	ENSP00000383449:p.Trp24Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A0FDN7	Missense_Mutation	SNP	pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C	p.W24S	ENST00000400606.2	37	c.71	CCDS42405.1	18	.	.	.	.	.	.	.	.	.	.	G	6.524	0.464917	0.12402	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.21543	2.0;2.27;2.0	5.68	4.78	0.61160	.	0.881288	0.10395	N	0.679924	T	0.10165	0.0249	N	0.19112	0.55	0.40452	D	0.980154	P;B	0.38597	0.639;0.264	B;B	0.32928	0.155;0.044	T	0.08617	-1.0713	10	0.02654	T	1	-1.6162	8.1323	0.31035	0.1225:0.1436:0.7339:0.0	.	76;24	F5GWQ8;Q15846	.;CLUL1_HUMAN	S	24;76;24	ENSP00000383449:W24S;ENSP00000441726:W76S;ENSP00000341128:W24S	ENSP00000341128:W24S	W	+	2	0	CLUL1	608071	0.986000	0.35501	1.000000	0.80357	0.766000	0.43426	1.206000	0.32321	2.680000	0.91292	0.591000	0.81541	TGG	CLUL1	-	pfam_Clusterin-like	ENSG00000079101		0.453	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLUL1	HGNC	protein_coding	OTTHUMT00000441183.1	280	0.00	0	G			618071	618071	+1	no_errors	ENST00000338387	ensembl	human	known	69_37n	missense	204	28.92	83	SNP	0.982	C
CNTLN	54875	genome.wustl.edu	37	9	17409379	17409379	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr9:17409379G>C	ENST00000380647.3	+	16	2788	c.2704G>C	c.(2704-2706)Gac>Cac	p.D902H	CNTLN_ENST00000262360.5_Missense_Mutation_p.D902H|CNTLN_ENST00000425824.1_Missense_Mutation_p.D902H			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	902					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGATGGAAAAGACCAGAAAGA	0.363																																						dbGAP											0													132.0	131.0	131.0					9																	17409379		1822	4079	5901	-	-	-	SO:0001583	missense	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.2704G>C	9.37:g.17409379G>C	ENSP00000370021:p.Asp902His	Somatic		WXS	Illumina GAIIx	Phase_IV	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.D902H	ENST00000380647.3	37	c.2704	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415205	0.25552	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.20463	2.07;2.07;2.33	5.94	4.08	0.47627	.	.	.	.	.	T	0.20333	0.0489	L	0.54323	1.7	0.33131	D	0.543028	B;B;B	0.15473	0.012;0.013;0.013	B;B;B	0.19148	0.01;0.024;0.024	T	0.12167	-1.0558	9	0.45353	T	0.12	.	7.7263	0.28761	0.0882:0.1645:0.7474:0.0	.	902;902;902	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	H	902	ENSP00000370021:D902H;ENSP00000392798:D902H;ENSP00000262360:D902H	ENSP00000262360:D902H	D	+	1	0	CNTLN	17399379	0.904000	0.30761	0.951000	0.38953	0.984000	0.73092	1.124000	0.31320	0.810000	0.34279	0.591000	0.81541	GAC	CNTLN	-	NULL	ENSG00000044459		0.363	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	178	0.00	0	G	NM_017738		17409379	17409379	+1	no_errors	ENST00000380647	ensembl	human	known	69_37n	missense	39	69.05	87	SNP	0.945	C
COL19A1	1310	genome.wustl.edu	37	6	70610189	70610189	+	Silent	SNP	C	C	G			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr6:70610189C>G	ENST00000322773.4	+	4	327	c.225C>G	c.(223-225)acC>acG	p.T75T		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	75	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTGATAAAACCTGTTTCAAAT	0.264																																						dbGAP											0													77.0	77.0	77.0					6																	70610189		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.225C>G	6.37:g.70610189C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.T75	ENST00000322773.4	37	c.225	CCDS4970.1	6																																																																																			COL19A1	-	superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000082293		0.264	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	205	0.00	0	C			70610189	70610189	+1	no_errors	ENST00000322773	ensembl	human	known	69_37n	silent	25	21.88	7	SNP	0.962	G
COX15	1355	genome.wustl.edu	37	10	101483877	101483877	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr10:101483877G>C	ENST00000016171.5	-	5	636	c.586C>G	c.(586-588)Ctg>Gtg	p.L196V	COX15_ENST00000370483.5_Missense_Mutation_p.L196V|CUTC_ENST00000493385.1_Intron			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	196					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		CATCCCAACAGACCCTAGAAC	0.438																																						dbGAP											0													75.0	77.0	77.0					10																	101483877		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.586C>G	10.37:g.101483877G>C	ENSP00000016171:p.Leu196Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	pfam_HemeA_syn,superfamily_Pept_cys/ser_Trypsin-like	p.L196V	ENST00000016171.5	37	c.586	CCDS7482.1	10	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109122	0.77096	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.82984	-1.67;-1.67	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.86331	0.5907	L	0.41632	1.29	0.80722	D	1	D;P	0.55605	0.972;0.95	P;P	0.60068	0.868;0.836	D	0.87222	0.2254	10	0.52906	T	0.07	-7.6246	18.0324	0.89289	0.0:0.0:1.0:0.0	.	196;196	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	V	196	ENSP00000359514:L196V;ENSP00000016171:L196V	ENSP00000016171:L196V	L	-	1	2	COX15	101473867	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	6.046000	0.71029	2.327000	0.79052	0.462000	0.41574	CTG	COX15	-	pfam_HemeA_syn	ENSG00000014919		0.438	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX15	HGNC	protein_coding	OTTHUMT00000049818.1	243	0.00	0	G	NP_510870		101483877	101483877	-1	no_errors	ENST00000016171	ensembl	human	known	69_37n	missense	125	23.64	39	SNP	1.000	C
CYP2D6	1565	genome.wustl.edu	37	22	42525144	42525145	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr22:42525144_42525145insT	ENST00000360608.5	-	3	509_510	c.395_396insA	c.(394-396)aggfs	p.R132fs	CYP2D6_ENST00000389970.3_Frame_Shift_Ins_p.R132fs|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Intron|NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000608288.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	132					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CGGAGAAGCGCCTCTGCTCGCG	0.688																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.395_396insA	22.37:g.42525144_42525145insT	ENSP00000353820:p.Arg132fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Frame_Shift_Ins	INS	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R133fs	ENST00000360608.5	37	c.396_395	CCDS46721.1	22																																																																																			CYP2D6	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000100197		0.688	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP2D6	HGNC	protein_coding	OTTHUMT00000320525.1	106	0.00	0	-			42525144	42525145	-1	no_errors	ENST00000360608	ensembl	human	known	69_37n	frame_shift_ins	13	66.67	26	INS	0.995:1.000	T
DIO1	1733	genome.wustl.edu	37	1	54371907	54371907	+	Silent	SNP	G	G	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr1:54371907G>A	ENST00000361921.3	+	3	645	c.621G>A	c.(619-621)caG>caA	p.Q207Q	DIO1_ENST00000525202.1_Silent_p.Q143Q|DIO1_ENST00000388876.3_Silent_p.Q159Q|DIO1_ENST00000322679.6_Intron|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000524406.1_Silent_p.Q78Q	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	207					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						AGAGCAGCCAGCTCTACGCAG	0.627																																						dbGAP											0													44.0	41.0	42.0					1																	54371907		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.621G>A	1.37:g.54371907G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Silent	SNP	pfam_Iodothyronine_deiodinase	p.Q159	ENST00000361921.3	37	c.477	CCDS41339.1	1																																																																																			DIO1	-	pfam_Iodothyronine_deiodinase	ENSG00000211452		0.627	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	DIO1	HGNC	protein_coding	OTTHUMT00000023247.3	66	0.00	0	G			54371907	54371907	+1	no_errors	ENST00000388876	ensembl	human	known	69_37n	silent	63	28.41	25	SNP	0.095	A
DNAH9	1770	genome.wustl.edu	37	17	11520810	11520810	+	Silent	SNP	G	G	A	rs200590483		TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr17:11520810G>A	ENST00000262442.4	+	5	1055	c.987G>A	c.(985-987)ccG>ccA	p.P329P	DNAH9_ENST00000454412.2_Silent_p.P329P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	329	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGAATTTCCGGAGGTGAAGC	0.597																																						dbGAP											0													52.0	47.0	48.0					17																	11520810		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.987G>A	17.37:g.11520810G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.P329	ENST00000262442.4	37	c.987	CCDS11160.1	17																																																																																			DNAH9	-	pfam_Dynein_heavy_dom-1	ENSG00000007174		0.597	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	68	0.00	0	G	NM_001372		11520810	11520810	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	silent	22	62.07	36	SNP	0.000	A
DSEL	92126	genome.wustl.edu	37	18	65178887	65178887	+	Frame_Shift_Del	DEL	C	C	-	rs570439551		TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr18:65178887delC	ENST00000310045.7	-	2	4462	c.2989delG	c.(2989-2991)gctfs	p.A997fs	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	987					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTCCTCAAAGCCCTAATATAT	0.388																																						dbGAP											0													55.0	60.0	59.0					18																	65178887		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2989delG	18.37:g.65178887delC	ENSP00000310565:p.Ala997fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RH1|Q6P5Z3	Frame_Shift_Del	DEL	pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas	p.A997fs	ENST00000310045.7	37	c.2989	CCDS11995.1	18																																																																																			DSEL	-	pfam_Sulfotransferase_dom	ENSG00000171451		0.388	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	64	0.00	0	C	NM_032160		65178887	65178887	-1	no_errors	ENST00000310045	ensembl	human	known	69_37n	frame_shift_del	11	15.38	2	DEL	1.000	-
EIF2AK1	27102	genome.wustl.edu	37	7	6077156	6077156	+	Splice_Site	SNP	C	C	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr7:6077156C>T	ENST00000199389.6	-	11	1378		c.e11-1		EIF2AK1_ENST00000536084.1_Splice_Site	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1						negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		ACATAAGGACCTTGAAGTAAA	0.294																																						dbGAP											0													82.0	77.0	79.0					7																	6077156		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1232-1G>A	7.37:g.6077156C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Splice_Site	SNP	-	e11-1	ENST00000199389.6	37	c.1232-1	CCDS5345.1	7	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541718	0.65198	.	.	ENSG00000086232	ENST00000199389;ENST00000536084;ENST00000426957	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8012	0.92018	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF2AK1	6043682	1.000000	0.71417	0.998000	0.56505	0.808000	0.45660	5.981000	0.70524	2.741000	0.93983	0.484000	0.47621	.	EIF2AK1	-	-	ENSG00000086232		0.294	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	HGNC	protein_coding	OTTHUMT00000207373.2	160	0.00	0	C	NM_014413	Intron	6077156	6077156	-1	no_errors	ENST00000199389	ensembl	human	known	69_37n	splice_site	61	29.89	26	SNP	1.000	T
EMR1	2015	genome.wustl.edu	37	19	6926403	6926403	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr19:6926403C>A	ENST00000312053.4	+	16	2050	c.2013C>A	c.(2011-2013)ttC>ttA	p.F671L	EMR1_ENST00000381407.5_Missense_Mutation_p.F530L|EMR1_ENST00000450315.3_Missense_Mutation_p.F494L|EMR1_ENST00000381404.4_Missense_Mutation_p.F619L|EMR1_ENST00000250572.8_Missense_Mutation_p.F606L	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	671					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCGCGGGCTTCCTGCACTACC	0.517																																						dbGAP											0													160.0	148.0	152.0					19																	6926403		2203	4300	6503	-	-	-	SO:0001583	missense	0			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2013C>A	19.37:g.6926403C>A	ENSP00000311545:p.Phe671Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.F671L	ENST00000312053.4	37	c.2013	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	c	7.775	0.708212	0.15239	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.18	-8.35	0.00984	GPCR, family 2-like (1);	.	.	.	.	T	0.12603	0.0306	N	0.04805	-0.155	0.19300	N	0.999972	B;B;B;B;B	0.18166	0.001;0.002;0.021;0.002;0.026	B;B;B;B;B	0.18561	0.003;0.007;0.013;0.011;0.022	T	0.26815	-1.0092	9	0.02654	T	1	.	4.2775	0.10816	0.1059:0.1476:0.1384:0.6081	.	494;530;606;619;671	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	L	606;671;619;606;530;494	ENSP00000311545:F671L;ENSP00000370811:F619L;ENSP00000250572:F606L;ENSP00000370814:F530L;ENSP00000405974:F494L	ENSP00000250572:F606L	F	+	3	2	EMR1	6877403	0.003000	0.15002	0.004000	0.12327	0.979000	0.70002	-1.410000	0.02480	-1.411000	0.02032	-0.482000	0.04802	TTC	EMR1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000174837		0.517	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	543	0.00	0	C			6926403	6926403	+1	no_errors	ENST00000312053	ensembl	human	known	69_37n	missense	263	39.68	173	SNP	0.083	A
EPS8L1	54869	genome.wustl.edu	37	19	55598949	55598949	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr19:55598949G>C	ENST00000201647.6	+	20	2195	c.2139G>C	c.(2137-2139)aaG>aaC	p.K713N	EPS8L1_ENST00000540810.1_Missense_Mutation_p.K649N|EPS8L1_ENST00000588359.1_Missense_Mutation_p.K399N|EPS8L1_ENST00000586329.1_Missense_Mutation_p.K538N|EPS8L1_ENST00000245618.5_Missense_Mutation_p.K586N	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	713					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AAAAGAAGAAGGTGGAAGGCG	0.592																																					Ovarian(149;255 1863 3636 27051 29647)	dbGAP											0													148.0	143.0	145.0					19																	55598949		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.2139G>C	19.37:g.55598949G>C	ENSP00000201647:p.Lys713Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain	p.K713N	ENST00000201647.6	37	c.2139	CCDS12914.1	19	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115897	0.37339	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.10573	3.17;2.92;2.86	3.35	1.07	0.20283	.	0.132035	0.48286	D	0.000181	T	0.19886	0.0478	M	0.76170	2.325	0.43448	D	0.995636	D;P;P	0.57257	0.979;0.944;0.906	P;P;B	0.53518	0.728;0.624;0.42	T	0.01195	-1.1422	10	0.72032	D	0.01	-24.805	7.1662	0.25691	0.2554:0.0:0.7446:0.0	.	492;586;713	Q8TE68-4;Q8TE68-2;Q8TE68	.;.;ES8L1_HUMAN	N	541;713;649;586;399	ENSP00000201647:K713N;ENSP00000437541:K649N;ENSP00000245618:K586N	ENSP00000201647:K713N	K	+	3	2	EPS8L1	60290761	0.997000	0.39634	0.996000	0.52242	0.460000	0.32559	0.155000	0.16362	0.189000	0.20188	0.205000	0.17691	AAG	EPS8L1	-	NULL	ENSG00000131037		0.592	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8L1	HGNC	protein_coding	OTTHUMT00000451713.1	750	0.13	1	G	NM_017729		55598949	55598949	+1	no_errors	ENST00000201647	ensembl	human	known	69_37n	missense	340	22.55	99	SNP	1.000	C
FAM157B	100132403	genome.wustl.edu	37	9	141107536	141107537	+	lincRNA	INS	-	-	GCA	rs367832601|rs554298933|rs370981092		TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr9:141107536_141107537insGCA	ENST00000446912.2	+	0	19_20							P0CG42	F157B_HUMAN	family with sequence similarity 157, member B																		CGgcagcggcggcagcagcagc	0.545																																						dbGAP											0																																										-	-	-			0					9q34	2013-01-24			ENSG00000233013	ENSG00000233013			34080	other	unknown							Standard	NM_001145249		Approved		uc011mfe.1	P0CG42	OTTHUMG00000021000		9.37:g.141107543_141107545dupGCA		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	INS	-	NULL	ENST00000446912.2	37	NULL		9																																																																																			FAM157B	-	-	ENSG00000233013		0.545	FAM157B-001	KNOWN	mRNA_end_NF|basic	lincRNA	FAM157B	HGNC	lincRNA	OTTHUMT00000055378.2	94	0.00	0	-	NM_001145249		141107536	141107537	+1	no_errors	ENST00000446912	ensembl	human	known	69_37n	rna	43	18.87	10	INS	0.033:0.036	GCA
FAM53B	9679	genome.wustl.edu	37	10	126370497	126370497	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr10:126370497G>T	ENST00000337318.3	-	4	796	c.585C>A	c.(583-585)tgC>tgA	p.C195*	FAM53B_ENST00000392754.3_Nonsense_Mutation_p.C195*|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Nonsense_Mutation_p.C195*	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	195										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GCACCCCTTGGCAGGGCTGCC	0.687																																						dbGAP											0													27.0	30.0	29.0					10																	126370497		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.585C>A	10.37:g.126370497G>T	ENSP00000338532:p.Cys195*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Nonsense_Mutation	SNP	NULL	p.C195*	ENST00000337318.3	37	c.585	CCDS7641.1	10	.	.	.	.	.	.	.	.	.	.	G	40	8.337035	0.98767	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	.	.	.	4.71	3.8	0.43715	.	0.567873	0.17399	N	0.175621	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-12.8136	8.1436	0.31097	0.0863:0.1589:0.7548:0.0	.	.	.	.	X	195	.	ENSP00000280780:C195X	C	-	3	2	FAM53B	126360487	0.999000	0.42202	0.738000	0.30950	0.543000	0.35085	2.596000	0.46205	1.346000	0.45694	-0.140000	0.14226	TGC	FAM53B	-	NULL	ENSG00000189319		0.687	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53B	HGNC	protein_coding	OTTHUMT00000050879.1	46	0.00	0	G	NM_014661		126370497	126370497	-1	no_errors	ENST00000337318	ensembl	human	known	69_37n	nonsense	19	32.14	9	SNP	0.996	T
BRINP3	339479	genome.wustl.edu	37	1	190068109	190068109	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr1:190068109G>A	ENST00000367462.3	-	8	1571	c.1340C>T	c.(1339-1341)tCt>tTt	p.S447F	BRINP3_ENST00000534846.1_Missense_Mutation_p.S345F	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	447					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CAGGCAGGCAGAGGCGTCTCC	0.642																																						dbGAP											0													64.0	55.0	58.0					1																	190068109		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1340C>T	1.37:g.190068109G>A	ENSP00000356432:p.Ser447Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.S447F	ENST00000367462.3	37	c.1340	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804331	0.31869	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.44482	0.92;0.92	5.65	5.65	0.86999	Epidermal growth factor-like (1);	0.247538	0.41605	D	0.000857	T	0.33498	0.0865	N	0.14661	0.345	0.19300	N	0.999978	B;B	0.28512	0.115;0.214	B;B	0.34138	0.176;0.135	T	0.39702	-0.9601	10	0.59425	D	0.04	.	17.2216	0.86959	0.0:0.0:1.0:0.0	.	345;447	B7Z260;Q76B58	.;FAM5C_HUMAN	F	447;345	ENSP00000356432:S447F;ENSP00000438022:S345F	ENSP00000356432:S447F	S	-	2	0	FAM5C	188334732	0.962000	0.33011	0.526000	0.27913	0.831000	0.47069	5.517000	0.67061	2.656000	0.90262	0.591000	0.81541	TCT	FAM5C	-	NULL	ENSG00000162670		0.642	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	HGNC	protein_coding	OTTHUMT00000086278.1	58	0.00	0	G	NM_199051		190068109	190068109	-1	no_errors	ENST00000367462	ensembl	human	known	69_37n	missense	33	28.26	13	SNP	0.143	A
FAM90A1	55138	genome.wustl.edu	37	12	8376138	8376138	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr12:8376138C>A	ENST00000538603.1	-	6	897	c.339G>T	c.(337-339)caG>caT	p.Q113H	FAM90A1_ENST00000307435.6_Missense_Mutation_p.Q113H	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	113							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GAGCCTTCCTCTGCGGGTCTT	0.557																																						dbGAP											0													37.0	35.0	36.0					12																	8376138		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.339G>T	12.37:g.8376138C>A	ENSP00000445418:p.Gln113His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUU9|Q9NVZ6	Missense_Mutation	SNP	NULL	p.Q113H	ENST00000538603.1	37	c.339	CCDS31738.1	12	.	.	.	.	.	.	.	.	.	.	.	9.785	1.176366	0.21704	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.18810	2.19;2.19	1.06	-2.12	0.07165	.	.	.	.	.	T	0.30696	0.0773	L	0.58810	1.83	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.17745	-1.0359	9	0.36615	T	0.2	-3.1922	0.1559	0.00098	0.2515:0.2564:0.2511:0.2409	.	113	Q86YD7	F90A1_HUMAN	H	113	ENSP00000307798:Q113H;ENSP00000445418:Q113H	ENSP00000307798:Q113H	Q	-	3	2	FAM90A1	8267405	0.052000	0.20516	0.000000	0.03702	0.127000	0.20565	0.256000	0.18351	-1.584000	0.01636	0.205000	0.17691	CAG	FAM90A1	-	NULL	ENSG00000171847		0.557	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM90A1	HGNC	protein_coding	OTTHUMT00000400468.1	66	0.00	0	C	NM_018088		8376138	8376138	-1	no_errors	ENST00000307435	ensembl	human	known	69_37n	missense	18	45.45	15	SNP	0.000	A
FBXO21	23014	genome.wustl.edu	37	12	117604733	117604733	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr12:117604733A>G	ENST00000330622.5	-	8	1162	c.1163T>C	c.(1162-1164)aTg>aCg	p.M388T	FBXO21_ENST00000427718.2_Missense_Mutation_p.M388T			O94952	FBX21_HUMAN	F-box protein 21	388					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GTTTCCCACCATTCTCTGTAA	0.478																																					GBM(168;452 2038 13535 17701 43680)	dbGAP											0													212.0	188.0	196.0					12																	117604733		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1163T>C	12.37:g.117604733A>G	ENSP00000328187:p.Met388Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom	p.M388T	ENST00000330622.5	37	c.1163	CCDS9184.1	12	.	.	.	.	.	.	.	.	.	.	A	22.7	4.323834	0.81580	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000330622;ENST00000548840	T;T	0.53423	0.62;0.62	5.93	5.93	0.95920	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.70090	0.3184	M	0.82323	2.585	0.80722	D	1	D;D;D	0.69078	0.997;0.987;0.984	D;D;D	0.70227	0.951;0.968;0.946	T	0.69844	-0.5035	10	0.30854	T	0.27	-15.7122	16.3943	0.83563	1.0:0.0:0.0:0.0	.	138;388;388	B3KQC8;O94952;O94952-1	.;FBX21_HUMAN;.	T	388;304;388;40	ENSP00000414468:M388T;ENSP00000328187:M388T	ENSP00000257563:M304T	M	-	2	0	FBXO21	116089116	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.896000	0.92521	2.281000	0.76405	0.533000	0.62120	ATG	FBXO21	-	superfamily_F-box_dom_cyclin-like	ENSG00000135108		0.478	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO21	HGNC	protein_coding	OTTHUMT00000404409.1	360	0.00	0	A	NM_033624		117604733	117604733	-1	no_errors	ENST00000330622	ensembl	human	known	69_37n	missense	107	31.41	49	SNP	1.000	G
FRMD6	122786	genome.wustl.edu	37	14	52186813	52186813	+	Silent	SNP	G	G	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr14:52186813G>C	ENST00000344768.5	+	11	1261	c.1065G>C	c.(1063-1065)ctG>ctC	p.L355L	FRMD6_ENST00000554167.1_Silent_p.L278L|FRMD6_ENST00000553556.1_5'UTR|FRMD6_ENST00000395718.2_Silent_p.L347L|FRMD6_ENST00000356218.4_Silent_p.L347L			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	355					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GTGACAACCTGGACCTCGACA	0.567																																						dbGAP											0													64.0	61.0	62.0					14																	52186813		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1065G>C	14.37:g.52186813G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.L355	ENST00000344768.5	37	c.1065	CCDS58318.1	14																																																																																			FRMD6	-	NULL	ENSG00000139926		0.567	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	72	0.00	0	G	NM_152330		52186813	52186813	+1	no_errors	ENST00000344768	ensembl	human	known	69_37n	silent	23	48.89	22	SNP	1.000	C
FXR1	8087	genome.wustl.edu	37	3	180675642	180675642	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr3:180675642G>C	ENST00000357559.4	+	10	1300	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q	FXR1_ENST00000445140.2_Missense_Mutation_p.E306Q|FXR1_ENST00000491062.1_Missense_Mutation_p.E257Q|FXR1_ENST00000305586.7_Missense_Mutation_p.E221Q|FXR1_ENST00000468861.1_Missense_Mutation_p.E221Q|FXR1_ENST00000480918.1_Missense_Mutation_p.E293Q	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	306	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGTTATTCAAGAAATAGTGGA	0.328																																						dbGAP											0													101.0	111.0	108.0					3																	180675642		2203	4300	6503	-	-	-	SO:0001583	missense	0			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.916G>C	3.37:g.180675642G>C	ENSP00000350170:p.Glu306Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet,superfamily_NA-bd_OB-fold-like,smart_KH_dom,pfscan_KH_dom_type_1	p.E306Q	ENST00000357559.4	37	c.916	CCDS3238.1	3	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973405	0.92919	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	5.44	5.44	0.79542	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.59115	0.2170	M	0.75085	2.285	0.80722	D	1	D;D;D;P;P;D	0.89917	1.0;0.999;0.999;0.762;0.675;0.995	D;D;D;P;P;D	0.85130	0.997;0.972;0.963;0.507;0.448;0.969	T	0.61603	-0.7029	10	0.87932	D	0	-11.1268	19.6264	0.95679	0.0:0.0:1.0:0.0	.	293;257;221;221;306;306	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	Q	306;221;257;221;306;293	ENSP00000350170:E306Q;ENSP00000307633:E221Q;ENSP00000420643:E257Q;ENSP00000420515:E221Q;ENSP00000388828:E306Q;ENSP00000418097:E293Q	ENSP00000307633:E221Q	E	+	1	0	FXR1	182158336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.717000	0.92951	0.655000	0.94253	GAA	FXR1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000114416		0.328	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR1	HGNC	protein_coding	OTTHUMT00000350265.5	437	0.00	0	G			180675642	180675642	+1	no_errors	ENST00000357559	ensembl	human	known	69_37n	missense	314	17.80	68	SNP	1.000	C
GJB5	2709	genome.wustl.edu	37	1	35223621	35223621	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr1:35223621C>A	ENST00000338513.1	+	2	863	c.690C>A	c.(688-690)caC>caA	p.H230Q	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	230					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CAGGTCATCACCCCCACGGTA	0.567																																						dbGAP											0													167.0	136.0	146.0					1																	35223621		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"""Ion channels / Gap junction proteins (connexins)"""	4287	protein-coding gene	gene with protein product	"""connexin 31.1"""	604493	"""gap junction protein, beta 5 (connexin 31.1)"", ""gap junction protein, beta 5"""			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.690C>A	1.37:g.35223621C>A	ENSP00000340811:p.His230Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UPA3	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin311	p.H230Q	ENST00000338513.1	37	c.690	CCDS382.1	1	.	.	.	.	.	.	.	.	.	.	C	5.026	0.190541	0.09547	.	.	ENSG00000189280	ENST00000338513	D	0.97529	-4.42	4.62	0.972	0.19704	.	4.111420	0.00357	N	0.000038	D	0.93416	0.7900	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	D	0.84835	0.0804	10	0.18710	T	0.47	.	7.1627	0.25672	0.0:0.5832:0.3141:0.1027	.	230	O95377	CXB5_HUMAN	Q	230	ENSP00000340811:H230Q	ENSP00000340811:H230Q	H	+	3	2	GJB5	34996208	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.023000	0.12456	0.466000	0.27193	0.563000	0.77884	CAC	GJB5	-	NULL	ENSG00000189280		0.567	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB5	HGNC	protein_coding	OTTHUMT00000011561.1	121	0.00	0	C	NM_005268		35223621	35223621	+1	no_errors	ENST00000338513	ensembl	human	known	69_37n	missense	88	25.42	30	SNP	0.000	A
GOLGA8T	653075	genome.wustl.edu	37	15	30435851	30435851	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr15:30435851G>A	ENST00000569052.1	+	14	1243	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	AC120045.2_ENST00000408858.1_RNA|RN7SL469P_ENST00000491512.2_RNA					golgin A8 family, member T																		GCAGCTAACGGCCCAGCTGAG	0.627																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					15q13.2	2013-01-17			ENSG00000261247	ENSG00000261247			44410	other	unknown							Standard	NR_033933		Approved		uc021sha.1		OTTHUMG00000175638	ENST00000569052.1:c.1243G>A	15.37:g.30435851G>A	ENSP00000455826:p.Ala415Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.A415T	ENST00000569052.1	37	c.1243		15																																																																																			RP5-1086D14.3	-	NULL	ENSG00000261247		0.627	GOLGA8T-001	NOVEL	basic|appris_principal	protein_coding	GOLGA8J	Clone_based_vega_gene	protein_coding	OTTHUMT00000430690.1	20	0.00	0	G	NR_033933		30435851	30435851	+1	no_errors	ENST00000569052	ensembl	human	novel	69_37n	missense	7	41.67	5	SNP	0.955	A
HIVEP3	59269	genome.wustl.edu	37	1	42046159	42046159	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr1:42046159C>A	ENST00000372583.1	-	4	5195	c.4310G>T	c.(4309-4311)aGc>aTc	p.S1437I	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1437I|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1437I|HIVEP3_ENST00000372584.1_Missense_Mutation_p.S1437I	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1437					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AAGTTCAAGGCTGCCAGCTGG	0.498																																						dbGAP											0													130.0	123.0	125.0					1																	42046159		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4310G>T	1.37:g.42046159C>A	ENSP00000361664:p.Ser1437Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1437I	ENST00000372583.1	37	c.4310	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945209	0.73672	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.33865	1.42;1.39;1.39;1.42	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000006	T	0.65575	0.2704	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.69595	-0.5103	10	0.87932	D	0	-10.672	18.8697	0.92308	0.0:1.0:0.0:0.0	.	1437;1437	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	I	1437	ENSP00000361665:S1437I;ENSP00000361664:S1437I;ENSP00000247584:S1437I;ENSP00000410828:S1437I	ENSP00000247584:S1437I	S	-	2	0	HIVEP3	41818746	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.788000	0.95919	0.650000	0.86243	AGC	HIVEP3	-	NULL	ENSG00000127124		0.498	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	161	0.00	0	C	NM_024503		42046159	42046159	-1	no_errors	ENST00000247584	ensembl	human	known	69_37n	missense	40	51.81	43	SNP	1.000	A
IFNE	338376	genome.wustl.edu	37	9	21481513	21481513	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr9:21481513G>C	ENST00000448696.3	-	1	799	c.181C>G	c.(181-183)Ctg>Gtg	p.L61V	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	61					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(2)|lung(1)|skin(1)	4						TGAGGAAGCAGAAAGTTTTTC	0.428																																						dbGAP											0													93.0	86.0	88.0					9																	21481513		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.181C>G	9.37:g.21481513G>C	ENSP00000418018:p.Leu61Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.L61V	ENST00000448696.3	37	c.181	CCDS34997.1	9	.	.	.	.	.	.	.	.	.	.	G	6.302	0.423797	0.11928	.	.	ENSG00000184995	ENST00000448696	T	0.03242	4.0	4.88	-3.34	0.04943	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.640320	0.03925	U	0.284266	T	0.06325	0.0163	M	0.63428	1.95	0.09310	N	1	P	0.42993	0.797	P	0.45856	0.495	T	0.32322	-0.9911	10	0.56958	D	0.05	.	1.7196	0.02908	0.1426:0.2158:0.3122:0.3295	.	61	Q86WN2	IFNE_HUMAN	V	61	ENSP00000418018:L61V	ENSP00000418018:L61V	L	-	1	2	IFNE	21471513	0.001000	0.12720	0.003000	0.11579	0.293000	0.27360	-0.064000	0.11636	-0.399000	0.07668	-0.152000	0.13540	CTG	IFNE	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	ENSG00000184995		0.428	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNE	HGNC	protein_coding	OTTHUMT00000051901.2	182	0.00	0	G	NM_176891		21481513	21481513	-1	no_errors	ENST00000448696	ensembl	human	known	69_37n	missense	82	31.09	37	SNP	0.004	C
IGKV1-5	28299	genome.wustl.edu	37	2	89246827	89246827	+	RNA	SNP	T	T	G			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr2:89246827T>G	ENST00000496168.1	-	0	523							P01602	KV110_HUMAN	immunoglobulin kappa variable 1-5						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GGAGAATAACTATTATACTGT	0.507																																						dbGAP											0													139.0	133.0	135.0					2																	89246827		1876	4095	5971	-	-	-			0			Z00001		2p11.2	2012-02-08			ENSG00000243466	ENSG00000243466		"""Immunoglobulins / IGK locus"""	5741	other	immunoglobulin gene							Standard	NG_000834		Approved			P01602	OTTHUMG00000151560		2.37:g.89246827T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S115R	ENST00000496168.1	37	c.343		2																																																																																			IGKV1-5	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000243466		0.507	IGKV1-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV1-5	HGNC	IG_V_gene	OTTHUMT00000323135.1	311	0.00	0	T	NG_000834		89246827	89246827	-1	no_stop_codon	ENST00000496168	ensembl	human	known	69_37n	missense	139	25.27	47	SNP	0.011	G
INTS3	65123	genome.wustl.edu	37	1	153734075	153734075	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr1:153734075A>T	ENST00000318967.2	+	14	2007	c.1439A>T	c.(1438-1440)aAg>aTg	p.K480M	INTS3_ENST00000456435.1_Missense_Mutation_p.K274M|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.K480M|INTS3_ENST00000512605.1_Missense_Mutation_p.K274M	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	481					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GACAACCCTAAGTTGGATAAG	0.473																																						dbGAP											0													97.0	92.0	94.0					1																	153734075		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1439A>T	1.37:g.153734075A>T	ENSP00000318641:p.Lys480Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	pfam_Integrator_3	p.K480M	ENST00000318967.2	37	c.1439	CCDS1052.1	1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.542464	0.85917	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	M	0.76002	2.32	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.996;0.993	T	0.77262	-0.2653	9	0.87932	D	0	.	12.7059	0.57060	1.0:0.0:0.0:0.0	.	274;481;480	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	M	480;274;480;274	.	ENSP00000318641:K480M	K	+	2	0	INTS3	152000699	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.461000	0.90372	2.111000	0.64477	0.374000	0.22700	AAG	INTS3	-	pfam_Integrator_3	ENSG00000143624		0.473	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	200	0.00	0	A	NM_023015		153734075	153734075	+1	no_errors	ENST00000318967	ensembl	human	known	69_37n	missense	96	26.72	35	SNP	1.000	T
MAP10	54627	genome.wustl.edu	37	1	232942237	232942237	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr1:232942237C>G	ENST00000418460.1	+	1	1595	c.1468C>G	c.(1468-1470)Cac>Gac	p.H490D		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	348					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										TCCCCCAGCACACAGGAGTTG	0.448																																						dbGAP											0													66.0	66.0	66.0					1																	232942237		1930	4136	6066	-	-	-	SO:0001583	missense	0			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.1468C>G	1.37:g.232942237C>G	ENSP00000403208:p.His490Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	NULL	p.H490D	ENST00000418460.1	37	c.1468	CCDS44334.1	1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.530136	0.00951	.	.	ENSG00000212916	ENST00000418460	.	.	.	4.17	-1.13	0.09775	.	2.110680	0.03393	N	0.202119	T	0.32912	0.0845	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16689	-1.0394	9	0.32370	T	0.25	3.979	7.2287	0.26030	0.0:0.5514:0.23:0.2186	.	348	Q9P2G4	K1383_HUMAN	D	490	.	ENSP00000403208:H490D	H	+	1	0	KIAA1383	231008860	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.520000	0.06252	-0.454000	0.07066	-0.795000	0.03280	CAC	KIAA1383	-	NULL	ENSG00000212916		0.448	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1383	HGNC	protein_coding	OTTHUMT00000092317.3	133	0.00	0	C	NM_019090		232942237	232942237	+1	no_errors	ENST00000418460	ensembl	human	known	69_37n	missense	47	22.95	14	SNP	0.000	G
KLHDC3	116138	genome.wustl.edu	37	6	42986630	42986630	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr6:42986630A>C	ENST00000326974.4	+	8	1045	c.850A>C	c.(850-852)Aag>Cag	p.K284Q	KLHDC3_ENST00000244670.8_Missense_Mutation_p.K150Q|KLHDC3_ENST00000332245.8_Missense_Mutation_p.K225Q|RRP36_ENST00000244496.5_5'Flank	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	284					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GATTGAACCGAAGGGGAAGGG	0.522																																						dbGAP											0													60.0	72.0	68.0					6																	42986630		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.850A>C	6.37:g.42986630A>C	ENSP00000313995:p.Lys284Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2W9	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1	p.K284Q	ENST00000326974.4	37	c.850	CCDS4880.1	6	.	.	.	.	.	.	.	.	.	.	A	9.996	1.232130	0.22626	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000244670;ENST00000394096;ENST00000426116;ENST00000332245	T;T;T	0.16743	3.12;2.32;3.12	5.25	5.25	0.73442	.	0.100468	0.64402	D	0.000003	T	0.03695	0.0105	N	0.13235	0.315	0.37683	D	0.923579	B;B;B;B	0.12630	0.003;0.004;0.006;0.001	B;B;B;B	0.14578	0.009;0.011;0.005;0.007	T	0.35126	-0.9801	10	0.15952	T	0.53	-5.468	11.4564	0.50185	0.8495:0.1504:0.0:0.0	.	284;225;150;284	E7ENU0;E7ERR0;F8W6A4;Q9BQ90	.;.;.;KLDC3_HUMAN	Q	284;284;150;284;257;225	ENSP00000313995:K284Q;ENSP00000244670:K150Q;ENSP00000331562:K225Q	ENSP00000244670:K150Q	K	+	1	0	KLHDC3	43094608	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.325000	0.59234	2.109000	0.64355	0.334000	0.21626	AAG	KLHDC3	-	NULL	ENSG00000124702		0.522	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC3	HGNC	protein_coding	OTTHUMT00000040570.1	113	0.00	0	A	NM_057161		42986630	42986630	+1	no_errors	ENST00000326974	ensembl	human	known	69_37n	missense	46	20.69	12	SNP	1.000	C
KRT19	3880	genome.wustl.edu	37	17	39680125	39680125	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr17:39680125C>T	ENST00000361566.3	-	6	1133	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q	KRT15_ENST00000254043.3_5'Flank|KRT15_ENST00000393976.2_5'Flank|KRT15_ENST00000393974.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	358	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CTGATTCTGCCGCTCACTATC	0.607																																						dbGAP											0													54.0	50.0	51.0					17																	39680125		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.1073G>A	17.37:g.39680125C>T	ENSP00000355124:p.Arg358Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.R358Q	ENST00000361566.3	37	c.1073	CCDS11399.1	17	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887283	0.52014	.	.	ENSG00000171345	ENST00000361566	D	0.89746	-2.56	4.99	4.99	0.66335	Filament (1);	0.000000	0.44285	D	0.000474	D	0.85982	0.5824	L	0.27975	0.815	0.44771	D	0.997771	D;P	0.64830	0.994;0.593	P;B	0.50136	0.632;0.103	D	0.86266	0.1658	10	0.42905	T	0.14	.	14.0167	0.64527	0.0:0.8487:0.1513:0.0	.	521;358	B4DE59;P08727	.;K1C19_HUMAN	Q	358	ENSP00000355124:R358Q	ENSP00000355124:R358Q	R	-	2	0	KRT19	36933651	0.998000	0.40836	1.000000	0.80357	0.719000	0.41307	3.962000	0.56766	2.321000	0.78463	0.556000	0.70494	CGG	KRT19	-	pfam_F	ENSG00000171345		0.607	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT19	HGNC	protein_coding	OTTHUMT00000257285.1	53	0.00	0	C	NM_002276		39680125	39680125	-1	no_errors	ENST00000361566	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	1.000	T
KRT4	3851	genome.wustl.edu	37	12	53208015	53208015	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr12:53208015T>C	ENST00000293774.4	-	1	320	c.50A>G	c.(49-51)gAt>gGt	p.D17G	KRT4_ENST00000458244.2_5'Flank|KRT4_ENST00000551956.1_5'UTR			P19013	K2C4_HUMAN	keratin 4	0	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CACAAGCCCATCCTTCCCGCA	0.527																																					Pancreas(190;284 2995 41444 45903)	dbGAP											0													65.0	71.0	69.0					12																	53208015		1920	4121	6041	-	-	-	SO:0001583	missense	0				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000293774.4:c.50A>G	12.37:g.53208015T>C	ENSP00000293774:p.Asp17Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.D17G	ENST00000293774.4	37	c.50		12	.	.	.	.	.	.	.	.	.	.	T	13.50	2.254721	0.39896	.	.	ENSG00000170477	ENST00000293774	D	0.83506	-1.73	4.76	4.76	0.60689	.	.	.	.	.	D	0.86456	0.5937	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.87417	0.2379	6	0.87932	D	0	.	9.2007	0.37256	0.0:0.1292:0.0:0.8708	.	.	.	.	G	17	ENSP00000293774:D17G	ENSP00000293774:D17G	D	-	2	0	KRT4	51494282	0.511000	0.26179	0.991000	0.47740	0.680000	0.39746	0.852000	0.27764	2.139000	0.66308	0.533000	0.62120	GAT	KRT4	-	NULL	ENSG00000170477		0.527	KRT4-201	KNOWN	basic|appris_candidate_longest	protein_coding	KRT4	HGNC	protein_coding		71	0.00	0	T	NM_002272		53208015	53208015	-1	no_errors	ENST00000293774	ensembl	human	known	69_37n	missense	19	47.22	17	SNP	0.996	C
LAMA2	3908	genome.wustl.edu	37	6	129824389	129824389	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr6:129824389G>C	ENST00000421865.2	+	60	8560	c.8511G>C	c.(8509-8511)atG>atC	p.M2837I		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2837	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCCACACCATGATCCCCACCA	0.493																																						dbGAP											0													88.0	82.0	84.0					6																	129824389		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8511G>C	6.37:g.129824389G>C	ENSP00000400365:p.Met2837Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.M2837I	ENST00000421865.2	37	c.8511	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557849	0.27827	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.75704	-0.96	5.86	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.212322	0.56097	D	0.000023	T	0.55273	0.1910	N	0.21282	0.65	0.34270	D	0.680969	P;P	0.45957	0.869;0.767	P;B	0.46850	0.529;0.376	T	0.58549	-0.7617	9	.	.	.	.	16.1144	0.81295	0.0:0.0:0.8653:0.1347	.	2838;2837	A6NF00;P24043	.;LAMA2_HUMAN	I	2837;2836;2837;855	ENSP00000400365:M2837I	.	M	+	3	0	LAMA2	129866082	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.371000	0.52379	1.420000	0.47138	0.655000	0.94253	ATG	LAMA2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000196569		0.493	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	121	0.00	0	G			129824389	129824389	+1	no_errors	ENST00000421865	ensembl	human	known	69_37n	missense	62	45.13	51	SNP	1.000	C
L1CAM	3897	genome.wustl.edu	37	X	153149672	153149672	+	Intron	SNP	G	G	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chrX:153149672G>T	ENST00000370060.1	-	1	82				L1CAM_ENST00000484587.1_5'UTR|LCA10_ENST00000357566.1_5'UTR|L1CAM_ENST00000370055.1_Intron	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					aaggagCACTGGCCATGAGCA	0.617																																						dbGAP											0													32.0	23.0	26.0					X																	153149672		2193	4289	6482	-	-	-	SO:0001627	intron_variant	0			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.107+1846C>A	X.37:g.153149672G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	NULL	p.W168L	ENST00000370060.1	37	c.503	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	g	2.668	-0.278113	0.05679	.	.	ENSG00000196987	ENST00000452593	.	.	.	2.58	-1.74	0.08056	.	.	.	.	.	T	0.17831	0.0428	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22626	-1.0211	4	.	.	.	.	0.1799	0.00122	0.3013:0.2116:0.2709:0.2162	.	.	.	.	L	168	.	.	W	+	2	0	U52112.12	152802866	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.445000	0.21677	-0.629000	0.05575	0.418000	0.28097	TGG	U52112.12	-	NULL	ENSG00000196987		0.617	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LOC100996465	Clone_based_vega_gene	protein_coding	OTTHUMT00000061094.2	77	0.00	0	G	NM_024003		153149672	153149672	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000452593	ensembl	human	putative	69_37n	missense	28	42.86	21	SNP	0.000	T
LRP1B	53353	genome.wustl.edu	37	2	141528484	141528484	+	Silent	SNP	T	T	C	rs147525271		TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr2:141528484T>C	ENST00000389484.3	-	34	6563	c.5592A>G	c.(5590-5592)ggA>ggG	p.G1864G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1864	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGAGATAATATCCCACTGTAC	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													176.0	162.0	167.0					2																	141528484		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5592A>G	2.37:g.141528484T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G1864	ENST00000389484.3	37	c.5592	CCDS2182.1	2																																																																																			LRP1B	-	smart_EGF-like	ENSG00000168702		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	185	0.00	0	T	NM_018557		141528484	141528484	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	silent	17	55.26	21	SNP	0.987	C
MED16	10025	genome.wustl.edu	37	19	884973	884973	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr19:884973G>C	ENST00000589119.1	-	5	914	c.915C>G	c.(913-915)atC>atG	p.I305M	MED16_ENST00000325464.1_Missense_Mutation_p.I305M|MED16_ENST00000312090.6_Missense_Mutation_p.I305M|MED16_ENST00000269814.4_Missense_Mutation_p.I305M|MED16_ENST00000395808.3_Missense_Mutation_p.I305M|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	305					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACTCCACGATGCTGCTGG	0.687																																						dbGAP											0													42.0	29.0	34.0					19																	884973		2199	4298	6497	-	-	-	SO:0001583	missense	0			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.915C>G	19.37:g.884973G>C	ENSP00000464810:p.Ile305Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I305M	ENST00000589119.1	37	c.915	CCDS12047.1	19	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141052	0.56936	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000424039	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	4.8	-9.6	0.00553	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.055254	0.64402	D	0.000001	T	0.36054	0.0953	L	0.53249	1.67	0.38982	D	0.958967	B;B;P;B;P	0.48834	0.155;0.093;0.603;0.431;0.916	B;B;B;B;P	0.45681	0.183;0.101;0.357;0.127;0.49	T	0.54330	-0.8310	10	0.36615	T	0.2	-30.4592	4.0177	0.09652	0.0967:0.4489:0.1936:0.2608	.	305;305;305;305;305	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	M	305;305;305;305;305;161;305	ENSP00000325612:I305M;ENSP00000308528:I305M;ENSP00000379153:I305M;ENSP00000269814:I305M	ENSP00000269814:I305M	I	-	3	3	MED16	835973	0.012000	0.17670	0.890000	0.34922	0.924000	0.55760	-1.038000	0.03553	-0.696000	0.05098	0.561000	0.74099	ATC	MED16	-	pfam_Mediator_Med16,superfamily_WD40_repeat_dom	ENSG00000175221		0.687	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED16	HGNC	protein_coding	OTTHUMT00000457902.3	8	0.00	0	G	NM_005481		884973	884973	-1	no_errors	ENST00000325464	ensembl	human	known	69_37n	missense	7	46.15	6	SNP	0.384	C
LTBP4	8425	genome.wustl.edu	37	19	41133242	41133242	+	Nonsense_Mutation	SNP	G	G	T	rs187448224	byFrequency	TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr19:41133242G>T	ENST00000308370.7	+	32	4546	c.4546G>T	c.(4546-4548)Gaa>Taa	p.E1516*	LTBP4_ENST00000204005.9_Nonsense_Mutation_p.E1479*|LTBP4_ENST00000396819.3_Nonsense_Mutation_p.E1449*|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_Nonsense_Mutation_p.E884*|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1517					extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGCCTCCTGAAGGTGGAAG	0.662																																						dbGAP											0													7.0	8.0	7.0					19																	41133242		2042	4159	6201	-	-	-	SO:0001587	stop_gained	0			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4546G>T	19.37:g.41133242G>T	ENSP00000311905:p.Glu1516*	Somatic		WXS	Illumina GAIIx	Phase_IV	O00508|O75412|O75413	Nonsense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E1516*	ENST00000308370.7	37	c.4546		19	.	.	.	.	.	.	.	.	.	.	G	40	8.433551	0.98808	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	.	.	.	5.22	4.19	0.49359	.	0.000000	0.37955	N	0.001871	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	10.3714	0.44055	0.0918:0.0:0.9082:0.0	.	.	.	.	X	1479;884;1516;1449;277	.	ENSP00000204005:E1479X	E	+	1	0	LTBP4	45825082	1.000000	0.71417	0.023000	0.16930	0.008000	0.06430	4.012000	0.57131	2.427000	0.82271	0.655000	0.94253	GAA	LTBP4	-	NULL	ENSG00000090006		0.662	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	HGNC	protein_coding		27	0.00	0	G	NM_003573		41133242	41133242	+1	no_errors	ENST00000308370	ensembl	human	known	69_37n	nonsense	14	30.00	6	SNP	0.043	T
LRRC4B	94030	genome.wustl.edu	37	19	51021546	51021546	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr19:51021546C>A	ENST00000599957.1	-	3	1621	c.1424G>T	c.(1423-1425)gGt>gTt	p.G475V	LRRC4B_ENST00000389201.3_Missense_Mutation_p.G475V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	475	Gly-rich.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		tccaacaccaccactgccccc	0.756																																						dbGAP											0													7.0	9.0	8.0					19																	51021546		1727	3878	5605	-	-	-	SO:0001583	missense	0			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1424G>T	19.37:g.51021546C>A	ENSP00000471502:p.Gly475Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCQ4|Q58F20	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G475V	ENST00000599957.1	37	c.1424	CCDS42595.1	19	.	.	.	.	.	.	.	.	.	.	C	3.588	-0.084266	0.07097	.	.	ENSG00000131409	ENST00000389201	T	0.59906	0.23	2.84	-2.13	0.07144	.	.	.	.	.	T	0.34454	0.0898	N	0.08118	0	0.09310	N	0.999994	B	0.11235	0.004	B	0.08055	0.003	T	0.19614	-1.0300	9	0.45353	T	0.12	.	11.336	0.49505	0.0:0.3186:0.6814:0.0	.	475	Q9NT99	LRC4B_HUMAN	V	475	ENSP00000373853:G475V	ENSP00000373853:G475V	G	-	2	0	LRRC4B	55713358	0.868000	0.29978	0.000000	0.03702	0.426000	0.31534	0.000000	0.12993	-0.389000	0.07786	0.462000	0.41574	GGT	LRRC4B	-	NULL	ENSG00000131409		0.756	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	20	0.00	0	C	NM_001080457		51021546	51021546	-1	no_errors	ENST00000389201	ensembl	human	known	69_37n	missense	5	66.67	10	SNP	0.001	A
MPHOSPH9	10198	genome.wustl.edu	37	12	123703035	123703035	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr12:123703035G>A	ENST00000606320.1	-	6	1090	c.884C>T	c.(883-885)aCa>aTa	p.T295I	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.T143I|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.T265I|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.T143I			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	295						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TGCCCATGATGTTATAGCATT	0.398																																						dbGAP											0													208.0	185.0	193.0					12																	123703035		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.884C>T	12.37:g.123703035G>A	ENSP00000475489:p.Thr295Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	superfamily_Prefoldin	p.T143I	ENST00000606320.1	37	c.428		12	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387402	0.25031	.	.	ENSG00000051825;ENSG00000051825;ENSG00000257076	ENST00000302349;ENST00000541076;ENST00000537854	T;T	0.56776	0.44;0.5	4.93	4.93	0.64822	.	0.148948	0.45126	D	0.000392	T	0.70928	0.3280	M	0.68952	2.095	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.74194	-0.3744	10	0.72032	D	0.01	-17.021	16.2915	0.82755	0.0:0.0:1.0:0.0	.	143	Q99550	MPP9_HUMAN	I	143;143;39	ENSP00000303597:T143I;ENSP00000445859:T143I	ENSP00000303597:T143I	T	-	2	0	MPHOSPH9;RP11-546D6.2	122268988	1.000000	0.71417	0.998000	0.56505	0.782000	0.44232	5.598000	0.67585	2.444000	0.82710	0.555000	0.69702	ACA	MPHOSPH9	-	NULL	ENSG00000051825		0.398	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2	288	0.00	0	G			123703035	123703035	-1	no_errors	ENST00000541076	ensembl	human	known	69_37n	missense	62	63.53	108	SNP	1.000	A
MRPL48	51642	genome.wustl.edu	37	11	73574260	73574260	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr11:73574260T>A	ENST00000310614.7	+	7	1174	c.518T>A	c.(517-519)aTa>aAa	p.I173K	MRPL48_ENST00000542303.1_Missense_Mutation_p.I82K|MRPL48_ENST00000535529.1_Missense_Mutation_p.I155K|MRPL48_ENST00000411840.2_Missense_Mutation_p.I74K|MRPL48_ENST00000398483.3_Missense_Mutation_p.I74K|MRPL48_ENST00000314282.7_Missense_Mutation_p.I74K	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	173						mitochondrial ribosome (GO:0005761)				kidney(1)	1						TTCTTGGAAATAATCCAAAGC	0.468																																						dbGAP											0													60.0	59.0	59.0					11																	73574260		2010	4179	6189	-	-	-	SO:0001583	missense	0			AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"""Mitochondrial ribosomal proteins / large subunits"""	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.518T>A	11.37:g.73574260T>A	ENSP00000308717:p.Ile173Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	Missense_Mutation	SNP	pfam_Ribosomal_S10,superfamily_Ribosomal_S10	p.I173K	ENST00000310614.7	37	c.518	CCDS44676.1	11	.	.	.	.	.	.	.	.	.	.	T	27.5	4.839907	0.91117	.	.	ENSG00000175581	ENST00000310614;ENST00000535529;ENST00000411840;ENST00000398483;ENST00000542303;ENST00000314282	T;T	0.50548	0.75;0.74	5.33	5.33	0.75918	.	0.096869	0.85682	D	0.000000	T	0.66742	0.2820	M	0.76002	2.32	0.58432	D	0.999996	P;D	0.64830	0.922;0.994	P;D	0.67382	0.702;0.951	T	0.70868	-0.4755	10	0.72032	D	0.01	-23.8984	13.5318	0.61625	0.0:0.0:0.0:1.0	.	155;173	B4DN34;Q96GC5	.;RM48_HUMAN	K	173;155;74;74;82;74	ENSP00000308717:I173K;ENSP00000443685:I82K	ENSP00000308717:I173K	I	+	2	0	MRPL48	73251908	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.894000	0.69806	2.137000	0.66172	0.533000	0.62120	ATA	MRPL48	-	pfam_Ribosomal_S10,superfamily_Ribosomal_S10	ENSG00000175581		0.468	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL48	HGNC	protein_coding	OTTHUMT00000397733.1	167	0.00	0	T	NM_016055		73574260	73574260	+1	no_errors	ENST00000310614	ensembl	human	known	69_37n	missense	30	65.93	60	SNP	1.000	A
MYO10	4651	genome.wustl.edu	37	5	16818206	16818206	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr5:16818206C>T	ENST00000513610.1	-	3	645	c.191G>A	c.(190-192)gGc>gAc	p.G64D	MYO10_ENST00000507288.1_Missense_Mutation_p.G64D	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	64	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GTCATCCACGCCCTCCTCGTT	0.468																																						dbGAP											0													70.0	71.0	71.0					5																	16818206		1991	4162	6153	-	-	-	SO:0001583	missense	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.191G>A	5.37:g.16818206C>T	ENSP00000421280:p.Gly64Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.G64D	ENST00000513610.1	37	c.191	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042710	0.75732	.	.	ENSG00000145555	ENST00000513610;ENST00000513882;ENST00000502436;ENST00000507288	T;T;T;D	0.95518	-0.69;-0.69;-0.69;-3.73	6.08	6.08	0.98989	Myosin head, motor domain (1);	.	.	.	.	D	0.97511	0.9185	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.983	D;P;P	0.70935	0.971;0.873;0.619	D	0.96845	0.9621	9	0.49607	T	0.09	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	64;31;64	Q8IVX5;E9PCN3;Q9HD67	.;.;MYO10_HUMAN	D	64;75;31;64	ENSP00000421280:G64D;ENSP00000421309:G75D;ENSP00000426783:G31D;ENSP00000426664:G64D	ENSP00000426783:G31D	G	-	2	0	MYO10	16871206	1.000000	0.71417	0.996000	0.52242	0.078000	0.17371	5.395000	0.66291	2.894000	0.99253	0.655000	0.94253	GGC	MYO10	-	smart_Myosin_head_motor_dom	ENSG00000145555		0.468	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	156	0.00	0	C	NM_012334		16818206	16818206	-1	no_errors	ENST00000513610	ensembl	human	known	69_37n	missense	47	45.35	39	SNP	0.999	T
NAP1L1	4673	genome.wustl.edu	37	12	76453633	76453633	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr12:76453633T>A	ENST00000261182.8	-	6	860	c.374A>T	c.(373-375)tAt>tTt	p.Y125F	NAP1L1_ENST00000431879.3_Intron|NAP1L1_ENST00000549596.1_Missense_Mutation_p.Y125F|NAP1L1_ENST00000535020.2_Missense_Mutation_p.Y125F|NAP1L1_ENST00000393263.3_Missense_Mutation_p.Y125F|NAP1L1_ENST00000548044.1_Missense_Mutation_p.Y84F|NAP1L1_ENST00000552342.1_Missense_Mutation_p.Y125F|NAP1L1_ENST00000547773.1_Missense_Mutation_p.Y62F|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000547993.1_5'Flank|NAP1L1_ENST00000542344.1_Missense_Mutation_p.Y84F	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	125					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				CGTAGGTTCATAAATTGCATT	0.308																																						dbGAP											0													74.0	71.0	72.0					12																	76453633		2201	4295	6496	-	-	-	SO:0001583	missense	0				CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.374A>T	12.37:g.76453633T>A	ENSP00000261182:p.Tyr125Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNT8	Missense_Mutation	SNP	pfam_NAP_family	p.Y125F	ENST00000261182.8	37	c.374	CCDS9013.1	12	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243052	0.79912	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000547773;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000552342;ENST00000548044;ENST00000551992;ENST00000548273;ENST00000547704;ENST00000551524;ENST00000547479	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.52092	0.1713	M	0.84948	2.725	0.45250	D	0.998256	P;P;P;P;P;P	0.50156	0.758;0.828;0.758;0.932;0.896;0.825	P;P;P;P;P;P	0.61477	0.738;0.821;0.651;0.889;0.726;0.666	T	0.53294	-0.8459	10	0.30854	T	0.27	.	15.6433	0.77025	0.0:0.0:0.0:1.0	.	125;84;125;125;62;125	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;F8W543;P55209	.;.;.;.;.;NP1L1_HUMAN	F	125;119;125;62;84;125;125;125;84;125;84;125;84;151	ENSP00000261182:Y125F;ENSP00000450236:Y119F;ENSP00000376947:Y125F;ENSP00000448167:Y62F;ENSP00000444759:Y84F;ENSP00000445008:Y125F;ENSP00000447793:Y125F;ENSP00000447196:Y125F;ENSP00000449649:Y84F;ENSP00000448764:Y125F;ENSP00000446787:Y84F;ENSP00000446756:Y125F;ENSP00000448661:Y84F;ENSP00000449333:Y151F	ENSP00000261182:Y125F	Y	-	2	0	NAP1L1	74739900	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.974000	0.56852	2.152000	0.67230	0.528000	0.53228	TAT	NAP1L1	-	pfam_NAP_family	ENSG00000187109		0.308	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L1	HGNC	protein_coding	OTTHUMT00000405850.3	208	0.00	0	T	NM_139207		76453633	76453633	-1	no_errors	ENST00000261182	ensembl	human	known	69_37n	missense	79	15.96	15	SNP	1.000	A
NGLY1	55768	genome.wustl.edu	37	3	25761640	25761640	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr3:25761640A>G	ENST00000280700.5	-	11	1814	c.1654T>C	c.(1654-1656)Tcc>Ccc	p.S552P	NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Intron|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000417874.2_Missense_Mutation_p.S510P|NGLY1_ENST00000428257.1_Missense_Mutation_p.S534P	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	552	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						AACTTCCAGGAAATATAAGCA	0.368																																						dbGAP											0													82.0	79.0	80.0					3																	25761640		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1654T>C	3.37:g.25761640A>G	ENSP00000280700:p.Ser552Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	pfam_PUB_domain,pfam_Transglutaminase-like,pfam_Rad4/PNGase_transGLS-fold,pfam_Peptide_N_glycanase_PAW_dom,superfamily_Galactose-bd-like,smart_PUG-dom,smart_Transglutaminase-like,smart_Peptide_N_glycanase_PAW_dom	p.S552P	ENST00000280700.5	37	c.1654	CCDS33719.1	3	.	.	.	.	.	.	.	.	.	.	A	21.2	4.112633	0.77210	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000308710;ENST00000417874	D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04	5.79	5.79	0.91817	Peptide N glycanase, PAW domain (3);Galactose-binding domain-like (1);	0.081226	0.85682	D	0.000000	D	0.97685	0.9241	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.79108	0.976;0.992;0.992	D	0.98041	1.0382	10	0.87932	D	0	-8.7036	9.671	0.40013	0.7403:0.0:0.0:0.2597	.	510;534;552	B4DJE9;Q96IV0-2;Q96IV0	.;.;NGLY1_HUMAN	P	534;552;531;510	ENSP00000387430:S534P;ENSP00000280700:S552P;ENSP00000307980:S531P;ENSP00000389888:S510P	ENSP00000280700:S552P	S	-	1	0	NGLY1	25736644	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.319000	0.51983	2.219000	0.72066	0.460000	0.39030	TCC	NGLY1	-	pfam_Peptide_N_glycanase_PAW_dom,superfamily_Galactose-bd-like,smart_Peptide_N_glycanase_PAW_dom	ENSG00000151092		0.368	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGLY1	HGNC	protein_coding	OTTHUMT00000340832.2	241	0.00	0	A			25761640	25761640	-1	no_errors	ENST00000280700	ensembl	human	known	69_37n	missense	118	33.33	59	SNP	1.000	G
NID1	4811	genome.wustl.edu	37	1	236205393	236205393	+	Missense_Mutation	SNP	G	G	C	rs563343044		TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr1:236205393G>C	ENST00000264187.6	-	4	1034	c.952C>G	c.(952-954)Ctg>Gtg	p.L318V	NID1_ENST00000366595.3_Missense_Mutation_p.L318V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	318					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CCCCTTCTCAGAGCCTTGTAG	0.602																																						dbGAP											0													118.0	106.0	110.0					1																	236205393		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.952C>G	1.37:g.236205393G>C	ENSP00000264187:p.Leu318Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.L318V	ENST00000264187.6	37	c.952	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	G	8.681	0.905087	0.17760	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.88046	-1.67;-2.33	5.29	1.31	0.21738	.	1.677440	0.02820	N	0.125483	T	0.75496	0.3857	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.013;0.0	B;B	0.19391	0.025;0.001	T	0.62096	-0.6926	10	0.28530	T	0.3	.	6.3074	0.21147	0.1745:0.1387:0.6868:0.0	.	318;318	P14543-2;P14543	.;NID1_HUMAN	V	318	ENSP00000264187:L318V;ENSP00000355554:L318V	ENSP00000264187:L318V	L	-	1	2	NID1	234272016	0.001000	0.12720	0.000000	0.03702	0.031000	0.12232	0.840000	0.27600	0.084000	0.17077	0.563000	0.77884	CTG	NID1	-	NULL	ENSG00000116962		0.602	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	71	0.00	0	G	NM_002508		236205393	236205393	-1	no_errors	ENST00000264187	ensembl	human	known	69_37n	missense	40	25.93	14	SNP	0.000	C
NR1D2	9975	genome.wustl.edu	37	3	24018854	24018854	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr3:24018854C>T	ENST00000312521.4	+	8	2003	c.1684C>T	c.(1684-1686)Cga>Tga	p.R562*	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	562	Interaction with ZNHIT1.|Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GCCAGATCTTCGATCTTTAAA	0.378																																						dbGAP											0													76.0	80.0	79.0					3																	24018854		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.1684C>T	3.37:g.24018854C>T	ENSP00000310006:p.Arg562*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8Q3|O00402|Q86XD4	Nonsense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R562*	ENST00000312521.4	37	c.1684	CCDS33718.1	3	.	.	.	.	.	.	.	.	.	.	C	37	6.265369	0.97426	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	.	.	.	5.92	5.92	0.95590	.	0.110729	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3605	0.98856	0.0:1.0:0.0:0.0	.	.	.	.	X	562	.	ENSP00000310006:R562X	R	+	1	2	NR1D2	23993858	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.034000	0.70933	2.817000	0.96982	0.558000	0.71614	CGA	NR1D2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000174738		0.378	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D2	HGNC	protein_coding	OTTHUMT00000341017.3	195	0.00	0	C			24018854	24018854	+1	no_errors	ENST00000312521	ensembl	human	known	69_37n	nonsense	26	66.23	51	SNP	1.000	T
NR4A3	8013	genome.wustl.edu	37	9	102590381	102590381	+	Silent	SNP	G	G	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr9:102590381G>A	ENST00000395097.2	+	3	786	c.57G>A	c.(55-57)gcG>gcA	p.A19A	NR4A3_ENST00000330847.1_Silent_p.A30A|NR4A3_ENST00000338488.4_Silent_p.A19A	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	19					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GTTATGCGGCGCAGACATACA	0.542			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	dbGAP		Dom	yes		9	9q22	8013	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""		M	0													131.0	104.0	113.0					9																	102590381		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.57G>A	9.37:g.102590381G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.A30	ENST00000395097.2	37	c.90	CCDS6743.1	9																																																																																			NR4A3	-	NULL	ENSG00000119508		0.542	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A3	HGNC	protein_coding	OTTHUMT00000055482.1	104	0.00	0	G			102590381	102590381	+1	no_errors	ENST00000330847	ensembl	human	known	69_37n	silent	56	34.12	29	SNP	0.419	A
NSUN4	387338	genome.wustl.edu	37	1	46818635	46818635	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr1:46818635C>G	ENST00000474844.1	+	4	1338	c.688C>G	c.(688-690)Caa>Gaa	p.Q230E	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_Missense_Mutation_p.Q181E|NSUN4_ENST00000536062.1_Missense_Mutation_p.Q181E	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	230					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GGATGGAAATCAAGTTCGAGT	0.502																																						dbGAP											0													143.0	128.0	133.0					1																	46818635		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.688C>G	1.37:g.46818635C>G	ENSP00000419740:p.Gln230Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.Q230E	ENST00000474844.1	37	c.688	CCDS534.1	1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468352	0.26335	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.09630	2.96;2.96;2.96	4.92	4.0	0.46444	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	1.391540	0.04401	N	0.364180	T	0.09905	0.0243	N	0.21194	0.64	0.09310	N	1	B;B	0.14012	0.007;0.009	B;B	0.15484	0.013;0.004	T	0.25363	-1.0134	10	0.44086	T	0.13	4.7128	8.18	0.31305	0.1798:0.6465:0.1737:0.0	.	97;230	B3KUM0;Q96CB9	.;NSUN4_HUMAN	E	230;181;181	ENSP00000419740:Q230E;ENSP00000438912:Q181E;ENSP00000437758:Q181E	ENSP00000419740:Q230E	Q	+	1	0	NSUN4	46591222	0.206000	0.23470	0.127000	0.21898	0.921000	0.55340	1.574000	0.36482	1.274000	0.44362	0.591000	0.81541	CAA	NSUN4	-	pfam_Fmu/NOL1/Nop2p	ENSG00000117481		0.502	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN4	HGNC	protein_coding	OTTHUMT00000021427.1	379	0.00	0	C	NM_199044		46818635	46818635	+1	no_errors	ENST00000474844	ensembl	human	known	69_37n	missense	229	26.98	85	SNP	0.002	G
NXF3	56000	genome.wustl.edu	37	X	102332671	102332671	+	Silent	SNP	C	C	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chrX:102332671C>T	ENST00000395065.3	-	18	1556	c.1455G>A	c.(1453-1455)ctG>ctA	p.L485L	NXF3_ENST00000425644.1_Silent_p.L157L	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	485	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCACGATGCACAGACTGGAGG	0.547																																						dbGAP											0													174.0	117.0	137.0					X																	102332671		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.1455G>A	X.37:g.102332671C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.C358Y	ENST00000395065.3	37	c.1073	CCDS14503.1	X	.	.	.	.	.	.	.	.	.	.	C	9.497	1.102159	0.20632	.	.	ENSG00000147206	ENST00000427570	.	.	.	4.44	-8.88	0.00789	.	.	.	.	.	T	0.50718	0.1632	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.65747	-0.6093	4	.	.	.	-4.1383	10.8223	0.46612	0.099:0.6792:0.0989:0.1229	.	.	.	.	Y	358	.	.	C	-	2	0	NXF3	102219327	0.039000	0.19947	0.000000	0.03702	0.012000	0.07955	-1.399000	0.02506	-3.769000	0.00109	-0.914000	0.02751	TGT	NXF3	-	NULL	ENSG00000147206		0.547	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF3	HGNC	protein_coding	OTTHUMT00000057684.1	105	0.00	0	C	NM_022052		102332671	102332671	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000427570	ensembl	human	known	69_37n	missense	26	54.39	31	SNP	0.200	T
OBSCN	84033	genome.wustl.edu	37	1	228467646	228467646	+	Silent	SNP	C	C	G	rs379991		TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr1:228467646C>G	ENST00000422127.1	+	28	7565	c.7521C>G	c.(7519-7521)ccC>ccG	p.P2507P	OBSCN_ENST00000570156.2_Silent_p.P2936P|OBSCN_ENST00000359599.6_Silent_p.P1354P|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.P2507P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2507	Ig-like 24.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATGACACGCCCCTGTCTCCCT	0.617																																						dbGAP											0													22.0	27.0	25.0					1																	228467646		2111	4214	6325	-	-	-	SO:0001819	synonymous_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7521C>G	1.37:g.228467646C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P265R	ENST00000422127.1	37	c.794	CCDS58065.1	1																																																																																			OBSCN	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000154358		0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		52	0.00	0	C	NM_052843		228467646	228467646	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000366706	ensembl	human	novel	69_37n	missense	20	23.08	6	SNP	0.004	G
OR10H4	126541	genome.wustl.edu	37	19	16060433	16060433	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr19:16060433G>A	ENST00000322107.1	+	1	616	c.616G>A	c.(616-618)Gtc>Atc	p.V206I		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GCTGGTGTGTGTCACAGCCCT	0.478																																						dbGAP											0													313.0	278.0	290.0					19																	16060433		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.616G>A	19.37:g.16060433G>A	ENSP00000318834:p.Val206Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFJ2|Q96R57	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V206I	ENST00000322107.1	37	c.616	CCDS32941.1	19	.	.	.	.	.	.	.	.	.	.	g	0.005	-2.234627	0.00277	.	.	ENSG00000176231	ENST00000322107	T	0.37584	1.19	1.55	-0.823	0.10815	GPCR, rhodopsin-like superfamily (1);	0.208574	0.22988	U	0.053229	T	0.13243	0.0321	N	0.05383	-0.06	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.26326	-1.0106	10	0.12103	T	0.63	.	5.3914	0.16245	0.3881:0.0:0.6119:0.0	.	206	Q8NGA5	O10H4_HUMAN	I	206	ENSP00000318834:V206I	ENSP00000318834:V206I	V	+	1	0	OR10H4	15921433	0.000000	0.05858	0.290000	0.24890	0.012000	0.07955	-0.162000	0.10012	0.001000	0.14605	-0.350000	0.07774	GTC	OR10H4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000176231		0.478	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H4	HGNC	protein_coding	OTTHUMT00000460311.1	585	0.00	0	G			16060433	16060433	+1	no_errors	ENST00000322107	ensembl	human	known	69_37n	missense	414	30.67	184	SNP	0.002	A
OR52A5	390054	genome.wustl.edu	37	11	5153708	5153708	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr11:5153708G>C	ENST00000307388.1	-	1	164	c.165C>G	c.(163-165)aaC>aaG	p.N55K		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	55					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TATGGAGGCTGTTTTCATATT	0.398																																						dbGAP											0													72.0	73.0	73.0					11																	5153708		2201	4298	6499	-	-	-	SO:0001583	missense	0			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.165C>G	11.37:g.5153708G>C	ENSP00000303469:p.Asn55Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.N55K	ENST00000307388.1	37	c.165	CCDS31373.1	11	.	.	.	.	.	.	.	.	.	.	G	0.913	-0.718337	0.03182	.	.	ENSG00000171944	ENST00000307388	T	0.02944	4.1	5.21	-5.66	0.02451	GPCR, rhodopsin-like superfamily (1);	0.736212	0.12103	N	0.499281	T	0.00724	0.0024	N	0.00670	-1.27	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.45264	-0.9273	10	0.29301	T	0.29	.	2.6895	0.05117	0.1361:0.3118:0.1332:0.4189	.	55	Q9H2C5	O52A5_HUMAN	K	55	ENSP00000303469:N55K	ENSP00000303469:N55K	N	-	3	2	OR52A5	5110284	0.000000	0.05858	0.018000	0.16275	0.101000	0.19017	-2.278000	0.01159	-0.564000	0.06070	-0.158000	0.13435	AAC	OR52A5	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000171944		0.398	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52A5	HGNC	protein_coding	OTTHUMT00000142823.1	127	0.00	0	G	NM_001005160		5153708	5153708	-1	no_errors	ENST00000307388	ensembl	human	known	69_37n	missense	45	40.00	30	SNP	0.000	C
OR51B4	79339	genome.wustl.edu	37	11	5322935	5322935	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr11:5322935C>A	ENST00000380224.1	-	1	291	c.242G>T	c.(241-243)gGt>gTt	p.G81V	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	81					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCAGGACACCCAGGACTGT	0.507																																						dbGAP											0													133.0	123.0	126.0					11																	5322935		2201	4297	6498	-	-	-	SO:0001583	missense	0			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.242G>T	11.37:g.5322935C>A	ENSP00000369573:p.Gly81Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MAV5|Q6NTD7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G81V	ENST00000380224.1	37	c.242	CCDS7757.1	11	.	.	.	.	.	.	.	.	.	.	C	9.042	0.989860	0.18966	.	.	ENSG00000183251	ENST00000380224	T	0.04406	3.63	4.39	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.242983	0.29040	N	0.013335	T	0.07954	0.0199	L	0.41124	1.26	0.09310	N	1	P	0.52316	0.952	P	0.52710	0.707	T	0.12192	-1.0557	10	0.66056	D	0.02	.	6.6673	0.23047	0.1752:0.7323:0.0:0.0925	.	81	Q9Y5P0	O51B4_HUMAN	V	81	ENSP00000369573:G81V	ENSP00000369573:G81V	G	-	2	0	OR51B4	5279511	0.000000	0.05858	0.005000	0.12908	0.027000	0.11550	-0.151000	0.10175	1.073000	0.40885	0.655000	0.94253	GGT	OR51B4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000183251		0.507	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B4	HGNC	protein_coding	OTTHUMT00000142956.2	312	0.00	0	C	NM_033179		5322935	5322935	-1	no_errors	ENST00000380224	ensembl	human	known	69_37n	missense	172	33.33	86	SNP	0.008	A
OR5H15	403274	genome.wustl.edu	37	3	97887843	97887844	+	Frame_Shift_Ins	INS	-	-	T	rs377659479	byFrequency	TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr3:97887843_97887844insT	ENST00000356526.2	+	1	300_301	c.300_301insT	c.(301-303)tttfs	p.F101fs		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q100Q(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GCAAGATACAATTTTTTTCCAT	0.386																																						dbGAP											1	Substitution - coding silent(1)	kidney(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.307dupT	3.37:g.97887850_97887850dupT	ENSP00000373195:p.Phe101fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S102fs	ENST00000356526.2	37	c.300_301	CCDS33799.1	3																																																																																			OR5H15	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000233412		0.386	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H15	HGNC	protein_coding	OTTHUMT00000359109.1	374	0.00	0	-			97887843	97887844	+1	no_errors	ENST00000356526	ensembl	human	known	69_37n	frame_shift_ins	207	20.69	54	INS	0.003:0.000	T
PI16	221476	genome.wustl.edu	37	6	36931628	36931628	+	Missense_Mutation	SNP	G	G	C	rs201227678		TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr6:36931628G>C	ENST00000373674.3	+	6	1628	c.1300G>C	c.(1300-1302)Gtg>Ctg	p.V434L	PI16_ENST00000491324.1_3'UTR	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	434					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)	p.V434delV(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTAGCGTCGTGTCAGGGCT	0.612																																						dbGAP											1	Deletion - In frame(1)	endometrium(1)											50.0	48.0	48.0					6																	36931628		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.1300G>C	6.37:g.36931628G>C	ENSP00000362778:p.Val434Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.V434L	ENST00000373674.3	37	c.1300	CCDS34440.1	6	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300866	0.23650	.	.	ENSG00000164530	ENST00000536757;ENST00000373674;ENST00000539035	T	0.06528	3.29	4.94	-9.88	0.00467	.	2.911400	0.00995	N	0.003595	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.016	B;B	0.17722	0.012;0.019	T	0.33497	-0.9866	10	0.39692	T	0.17	.	3.4333	0.07436	0.3477:0.3979:0.0938:0.1606	.	434;241	Q6UXB8;Q6UXB8-2	PI16_HUMAN;.	L	241;434;286	ENSP00000362778:V434L	ENSP00000362778:V434L	V	+	1	0	PI16	37039606	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.814000	0.01723	-3.037000	0.00264	-1.080000	0.02220	GTG	PI16	-	NULL	ENSG00000164530		0.612	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI16	HGNC	protein_coding	OTTHUMT00000040380.1	137	0.00	0	G	NM_153370		36931628	36931628	+1	no_errors	ENST00000373674	ensembl	human	known	69_37n	missense	44	30.16	19	SNP	0.000	C
PIK3C2B	5287	genome.wustl.edu	37	1	204403609	204403609	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr1:204403609C>T	ENST00000367187.3	-	25	4200	c.3644G>A	c.(3643-3645)gGc>gAc	p.G1215D	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.G1187D	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1215	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CAGGAAGCGGCCAAAATCAAT	0.532																																						dbGAP											0													82.0	63.0	70.0					1																	204403609		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3644G>A	1.37:g.204403609C>T	ENSP00000356155:p.Gly1215Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.G1215D	ENST00000367187.3	37	c.3644	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916458	0.92249	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	D;D	0.84589	-1.87;-1.87	5.69	4.78	0.61160	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.94863	0.8340	H	0.97077	3.935	0.58432	D	0.999997	D;B	0.89917	1.0;0.45	D;B	0.91635	0.999;0.214	D	0.96264	0.9193	10	0.87932	D	0	.	14.3184	0.66468	0.0:0.9278:0.0:0.0722	.	1187;1215	F5GWN5;O00750	.;P3C2B_HUMAN	D	1215;1187	ENSP00000356155:G1215D;ENSP00000400561:G1187D	ENSP00000356155:G1215D	G	-	2	0	PIK3C2B	202670232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.718000	0.84743	1.414000	0.47017	0.563000	0.77884	GGC	PIK3C2B	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000133056		0.532	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	177	0.00	0	C	NM_002646		204403609	204403609	-1	no_errors	ENST00000367187	ensembl	human	known	69_37n	missense	79	33.61	40	SNP	1.000	T
PLK4	10733	genome.wustl.edu	37	4	128804612	128804612	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr4:128804612G>C	ENST00000270861.5	+	4	515	c.241G>C	c.(241-243)Gat>Cat	p.D81H	PLK4_ENST00000515069.1_Missense_Mutation_p.D81H|PLK4_ENST00000513090.1_Missense_Mutation_p.D49H|PLK4_ENST00000514379.1_Missense_Mutation_p.D40H|PLK4_ENST00000507249.1_Missense_Mutation_p.D81H|PLK4_ENST00000511942.1_3'UTR	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	81	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CTATTTTGAAGATAGCAATTA	0.303																																					Colon(135;508 1718 19061 31832 42879)	dbGAP											0													62.0	65.0	64.0					4																	128804612		2203	4293	6496	-	-	-	SO:0001583	missense	0			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.241G>C	4.37:g.128804612G>C	ENSP00000270861:p.Asp81His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.D81H	ENST00000270861.5	37	c.241	CCDS3735.1	4	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735159	0.89482	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83732	0.5318	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85319	0.1083	10	0.87932	D	0	.	19.6787	0.95950	0.0:0.0:1.0:0.0	.	49;81	O00444-2;O00444	.;PLK4_HUMAN	H	81;81;49;81;40	ENSP00000270861:D81H;ENSP00000421774:D81H;ENSP00000427554:D49H;ENSP00000423412:D81H;ENSP00000423582:D40H	ENSP00000270861:D81H	D	+	1	0	PLK4	129024062	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.443000	0.97568	2.636000	0.89361	0.655000	0.94253	GAT	PLK4	-	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	ENSG00000142731		0.303	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK4	HGNC	protein_coding	OTTHUMT00000257095.3	147	0.00	0	G			128804612	128804612	+1	no_errors	ENST00000270861	ensembl	human	known	69_37n	missense	15	31.82	7	SNP	1.000	C
POTEJ	653781	genome.wustl.edu	37	2	131414398	131414399	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr2:131414398_131414399insC	ENST00000409602.1	+	15	2117_2118	c.2065_2066insC	c.(2065-2067)gccfs	p.A689fs		NM_001277083.1	NP_001264012.1	P0CG39	POTEJ_HUMAN	POTE ankyrin domain family, member J	689	Actin-like.				retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				lung(5)	5						GGGCGACGATGCCCCCCGGGCT	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS59432.1	2q21.1	2013-01-10			ENSG00000222038	ENSG00000222038		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37094	protein-coding gene	gene with protein product						16364570	Standard	NM_001277083		Approved	POTE2beta	uc021vor.2	P0CG39	OTTHUMG00000154050	ENST00000409602.1:c.2071dupC	2.37:g.131414404_131414404dupC	ENSP00000387176:p.Ala689fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.R691fs	ENST00000409602.1	37	c.2065_2066	CCDS59432.1	2																																																																																			POTEJ	-	pfam_Actin-like,smart_Actin-like,prints_Actin-like	ENSG00000222038		0.604	POTEJ-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEJ	HGNC	protein_coding	OTTHUMT00000333665.1	30	0.00	0	-	XM_929706		131414398	131414399	+1	no_errors	ENST00000409602	ensembl	human	novel	69_37n	frame_shift_ins	16	11.11	2	INS	1.000:1.000	C
PRKCB	5579	genome.wustl.edu	37	16	24183606	24183606	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr16:24183606G>T	ENST00000321728.7	+	11	1430	c.1255G>T	c.(1255-1257)Gtg>Ttg	p.V419L	PRKCB_ENST00000303531.7_Missense_Mutation_p.V419L	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	419	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CCTGTACTTTGTGATGGAGTA	0.527																																						dbGAP											0													115.0	97.0	103.0					16																	24183606		2197	4300	6497	-	-	-	SO:0001583	missense	0			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1255G>T	16.37:g.24183606G>T	ENSP00000318315:p.Val419Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.V419L	ENST00000321728.7	37	c.1255	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421212	0.83559	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.70045	-0.45;-0.45	5.25	5.25	0.73442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064989	0.64402	N	0.000010	T	0.71160	0.3307	L	0.61036	1.89	0.80722	D	1	B;B	0.30914	0.255;0.3	B;B	0.39094	0.191;0.29	T	0.73020	-0.4114	10	0.72032	D	0.01	.	18.1787	0.89769	0.0:0.0:1.0:0.0	.	419;419	P05771-2;P05771	.;KPCB_HUMAN	L	419	ENSP00000318315:V419L;ENSP00000305355:V419L	ENSP00000305355:V419L	V	+	1	0	PRKCB	24091107	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.768000	0.98965	2.606000	0.88127	0.557000	0.71058	GTG	PRKCB	-	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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom	ENSG00000166501		0.527	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	355	0.56	2	G	NM_212535		24183606	24183606	+1	no_errors	ENST00000303531	ensembl	human	known	69_37n	missense	195	29.09	80	SNP	1.000	T
PTPN18	26469	genome.wustl.edu	37	2	131128528	131128530	+	In_Frame_Del	DEL	CAT	CAT	-	rs370791549		TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	CAT	CAT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr2:131128528_131128530delCAT	ENST00000175756.5	+	11	1016_1018	c.915_917delCAT	c.(913-918)aacatc>aac	p.I306del	PTPN18_ENST00000347849.3_In_Frame_Del_p.I199del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	306					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					ACTACCAGAACATCAAAGAGGTA	0.596																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.915_917delCAT	2.37:g.131128528_131128530delCAT	ENSP00000175756:p.Ile306del	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1E6|Q53P42	In_Frame_Del	DEL	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.I306in_frame_del	ENST00000175756.5	37	c.915_917	CCDS2161.1	2																																																																																			PTPN18	-	NULL	ENSG00000072135		0.596	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN18	HGNC	protein_coding	OTTHUMT00000254523.2	126	0.00	0	CAT			131128528	131128530	+1	no_errors	ENST00000175756	ensembl	human	known	69_37n	in_frame_del	44	36.99	27	DEL	0.996:0.995:1.000	-
PVRL2	5819	genome.wustl.edu	37	19	45368575	45368575	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr19:45368575C>G	ENST00000252483.5	+	2	136	c.136C>G	c.(136-138)Ctc>Gtc	p.L46V	PVRL2_ENST00000252485.4_Missense_Mutation_p.L46V	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	46	Ig-like V-type.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GCGAGGCCAGCTCGGGGGCAC	0.647																																						dbGAP											0													55.0	53.0	54.0					19																	45368575		2203	4300	6503	-	-	-	SO:0001583	missense	0			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.136C>G	19.37:g.45368575C>G	ENSP00000252483:p.Leu46Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L46V	ENST00000252483.5	37	c.136	CCDS42576.1	19	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522629	0.44866	.	.	ENSG00000130202	ENST00000252483;ENST00000252485	T;T	0.64438	-0.1;-0.1	4.75	1.22	0.21188	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.170180	0.28171	N	0.016324	T	0.67363	0.2885	L	0.49256	1.55	0.27040	N	0.96404	P;P	0.48694	0.914;0.895	D;P	0.66497	0.944;0.907	T	0.56986	-0.7888	10	0.41790	T	0.15	.	7.1864	0.25801	0.0:0.5822:0.3261:0.0917	.	46;46	Q92692;Q92692-2	PVRL2_HUMAN;.	V	46	ENSP00000252483:L46V;ENSP00000252485:L46V	ENSP00000252483:L46V	L	+	1	0	PVRL2	50060415	0.015000	0.18098	0.206000	0.23566	0.010000	0.07245	-0.085000	0.11250	0.272000	0.22027	-0.326000	0.08463	CTC	PVRL2	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000130202		0.647	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVRL2	HGNC	protein_coding	OTTHUMT00000453231.1	67	0.00	0	C	NM_002856		45368575	45368575	+1	no_errors	ENST00000252483	ensembl	human	known	69_37n	missense	37	28.85	15	SNP	0.353	G
RANBP17	64901	genome.wustl.edu	37	5	170597134	170597134	+	Splice_Site	SNP	G	G	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr5:170597134G>T	ENST00000523189.1	+	15	1875	c.1711G>T	c.(1711-1713)Gta>Tta	p.V571L	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	571					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTAATGCAGGTATATGCTCG	0.299			T	TRD@	ALL																																	dbGAP		Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													127.0	127.0	127.0					5																	170597134		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1711-1G>T	5.37:g.170597134G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IU74	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.V571L	ENST00000523189.1	37	c.1711	CCDS34287.1	5	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806940	0.31961	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.23754	1.89	6.06	6.06	0.98353	Armadillo-type fold (1);	0.000000	0.56097	D	0.000036	T	0.22475	0.0542	L	0.35854	1.095	0.45307	D	0.998309	B	0.17038	0.02	B	0.17979	0.02	T	0.03587	-1.1022	9	.	.	.	-0.9981	15.6925	0.77466	0.0:0.1363:0.8637:0.0	.	571	Q9H2T7	RBP17_HUMAN	L	571;1	ENSP00000427975:V571L	.	V	+	1	0	RANBP17	170529739	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.683000	0.46943	2.880000	0.98712	0.650000	0.86243	GTA	RANBP17	-	superfamily_ARM-type_fold	ENSG00000204764		0.299	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	HGNC	protein_coding	OTTHUMT00000372036.1	713	0.14	1	G	NM_022897	Missense_Mutation	170597134	170597134	+1	no_errors	ENST00000523189	ensembl	human	known	69_37n	missense	113	21.53	31	SNP	1.000	T
RASSF5	83593	genome.wustl.edu	37	1	206760274	206760274	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr1:206760274G>C	ENST00000355294.4	+	6	1278	c.1221G>C	c.(1219-1221)gaG>gaC	p.E407D	EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000367117.3_3'UTR|RASSF5_ENST00000304534.8_Missense_Mutation_p.E254D	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	407	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AGAAACTGGAGGAGGCCTTAA	0.423																																					GBM(162;656 1984 11916 22872 31529)	dbGAP											0													89.0	88.0	88.0					1																	206760274		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.1221G>C	1.37:g.206760274G>C	ENSP00000347443:p.Glu407Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.E407D	ENST00000355294.4	37	c.1221	CCDS30998.1	1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576748	0.45902	.	.	ENSG00000136653	ENST00000355294;ENST00000304534	T;T	0.12465	3.03;2.68	5.67	-0.665	0.11403	SARAH (1);	0.154354	0.64402	D	0.000017	T	0.08537	0.0212	N	0.17474	0.49	0.80722	D	1	B;B	0.33841	0.066;0.428	B;B	0.38616	0.022;0.277	T	0.29671	-1.0004	10	0.21014	T	0.42	-20.4191	11.4402	0.50092	0.4547:0.0:0.5453:0.0	.	254;407	Q8WWW0-2;Q8WWW0	.;RASF5_HUMAN	D	407;254	ENSP00000347443:E407D;ENSP00000306091:E254D	ENSP00000306091:E254D	E	+	3	2	RASSF5	204826897	0.993000	0.37304	0.998000	0.56505	0.998000	0.95712	0.293000	0.19029	0.055000	0.16094	0.655000	0.94253	GAG	RASSF5	-	pfscan_SARAH	ENSG00000136653		0.423	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF5	HGNC	protein_coding	OTTHUMT00000088469.1	351	0.00	0	G	NM_031437		206760274	206760274	+1	no_errors	ENST00000355294	ensembl	human	known	69_37n	missense	74	40.32	50	SNP	0.990	C
RHOB	388	genome.wustl.edu	37	2	20647263	20647263	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr2:20647263G>T	ENST00000272233.4	+	1	429	c.37G>T	c.(37-39)Gac>Tac	p.D13Y		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	13					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D13Y(1)		breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	GGTGGTGGGCGACGGCGCGTG	0.687																																						dbGAP											1	Substitution - Missense(1)	lung(1)											72.0	73.0	73.0					2																	20647263		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.37G>T	2.37:g.20647263G>T	ENSP00000272233:p.Asp13Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D13Y	ENST00000272233.4	37	c.37	CCDS1699.1	2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331541	0.81690	.	.	ENSG00000143878	ENST00000272233	T	0.80653	-1.4	5.72	4.85	0.62838	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	D	0.92512	0.7622	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94509	0.7717	10	0.87932	D	0	-18.8382	14.6865	0.69052	0.0697:0.0:0.9303:0.0	.	13	P62745	RHOB_HUMAN	Y	13	ENSP00000272233:D13Y	ENSP00000272233:D13Y	D	+	1	0	RHOB	20510744	1.000000	0.71417	0.999000	0.59377	0.415000	0.31203	9.664000	0.98607	1.428000	0.47296	-0.148000	0.13756	GAC	RHOB	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000143878		0.687	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOB	HGNC	protein_coding	OTTHUMT00000207500.1	37	0.00	0	G	NM_004040		20647263	20647263	+1	no_errors	ENST00000272233	ensembl	human	known	69_37n	missense	28	28.21	11	SNP	1.000	T
SCARB1	949	genome.wustl.edu	37	12	125296490	125296490	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr12:125296490G>A	ENST00000415380.2	-	5	777	c.652C>T	c.(652-654)Ctc>Ttc	p.L218F	SCARB1_ENST00000339570.5_Missense_Mutation_p.L218F|SCARB1_ENST00000261693.6_Missense_Mutation_p.L218F|SCARB1_ENST00000376788.1_Missense_Mutation_p.L118F|SCARB1_ENST00000546215.1_Missense_Mutation_p.L218F|SCARB1_ENST00000544327.1_Missense_Mutation_p.L164F|SCARB1_ENST00000540495.1_Missense_Mutation_p.L181F|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000541205.1_Missense_Mutation_p.L177F			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	218					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	ACCGTGAAGAGCCCAGAGTCG	0.602																																						dbGAP											0													103.0	74.0	84.0					12																	125296490		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.652C>T	12.37:g.125296490G>A	ENSP00000414979:p.Leu218Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	pfam_CD36,prints_CD36,prints_CD36_antigen	p.L218F	ENST00000415380.2	37	c.652		12	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832203	0.50845	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495	T;T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.03	-2.04	0.07343	.	0.463335	0.20909	N	0.083504	T	0.74756	0.3758	M	0.74546	2.27	0.33098	D	0.538851	D;D;D;D;D;D	0.60575	0.988;0.962;0.988;0.988;0.985;0.973	D;P;D;D;P;P	0.67900	0.938;0.873;0.954;0.954;0.856;0.856	T	0.72541	-0.4262	10	0.46703	T	0.11	-33.9706	2.2219	0.03974	0.176:0.1598:0.4727:0.1914	.	177;218;218;218;218;218	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	F	218;218;218;118;218;177;164;181	ENSP00000343795:L218F;ENSP00000414979:L218F;ENSP00000261693:L218F;ENSP00000365984:L118F;ENSP00000442862:L218F;ENSP00000446107:L177F;ENSP00000444851:L164F;ENSP00000443286:L181F	ENSP00000261693:L218F	L	-	1	0	SCARB1	123862443	0.354000	0.24912	0.109000	0.21407	0.884000	0.51177	0.674000	0.25218	-0.172000	0.10779	-0.516000	0.04426	CTC	SCARB1	-	pfam_CD36	ENSG00000073060		0.602	SCARB1-006	KNOWN	basic	protein_coding	SCARB1	HGNC	protein_coding	OTTHUMT00000400165.1	250	0.00	0	G	NM_005505		125296490	125296490	-1	no_errors	ENST00000415380	ensembl	human	known	69_37n	missense	38	62.00	62	SNP	0.134	A
SCARB2	950	genome.wustl.edu	37	4	77100835	77100835	+	Silent	SNP	C	C	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr4:77100835C>T	ENST00000264896.2	-	4	796	c.447G>A	c.(445-447)gtG>gtA	p.V149V	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	149					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TGAGGAAGTGCACCTGGGACC	0.512											OREG0016231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													175.0	164.0	167.0					4																	77100835		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.447G>A	4.37:g.77100835C>T		Somatic	1173	WXS	Illumina GAIIx	Phase_IV	B4DKD8|E7EM68|Q53Y63	Silent	SNP	pfam_CD36,superfamily_NA-bd_OB-fold-like,prints_LimpII,prints_CD36,prints_CD36_antigen	p.V149	ENST00000264896.2	37	c.447	CCDS3577.1	4																																																																																			SCARB2	-	pfam_CD36	ENSG00000138760		0.512	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARB2	HGNC	protein_coding	OTTHUMT00000252403.1	96	0.00	0	C	NM_005506		77100835	77100835	-1	no_errors	ENST00000264896	ensembl	human	known	69_37n	silent	21	65.57	40	SNP	0.000	T
SCLT1	132320	genome.wustl.edu	37	4	129873937	129873937	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr4:129873937G>A	ENST00000281142.5	-	14	1708	c.1205C>T	c.(1204-1206)tCa>tTa	p.S402L	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	402					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTGAAGGGCTGAAAGTTCTTC	0.279																																						dbGAP											0													124.0	128.0	126.0					4																	129873937		2200	4296	6496	-	-	-	SO:0001583	missense	0			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1205C>T	4.37:g.129873937G>A	ENSP00000281142:p.Ser402Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	NULL	p.S402L	ENST00000281142.5	37	c.1205	CCDS3740.1	4	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522019	0.64747	.	.	ENSG00000151466	ENST00000281142	T	0.30448	1.53	4.49	3.64	0.41730	.	0.142968	0.48767	D	0.000179	T	0.41581	0.1165	L	0.52364	1.645	0.80722	D	1	D	0.59767	0.986	P	0.58660	0.843	T	0.16424	-1.0403	9	.	.	.	-1.5771	11.448	0.50136	0.0905:0.0:0.9095:0.0	.	402	Q96NL6	SCLT1_HUMAN	L	402	ENSP00000281142:S402L	.	S	-	2	0	SCLT1	130093387	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	4.767000	0.62286	1.111000	0.41721	0.655000	0.94253	TCA	SCLT1	-	NULL	ENSG00000151466		0.279	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCLT1	HGNC	protein_coding	OTTHUMT00000257176.2	301	0.00	0	G	NM_144643		129873937	129873937	-1	no_errors	ENST00000281142	ensembl	human	known	69_37n	missense	82	14.58	14	SNP	1.000	A
SCN8A	6334	genome.wustl.edu	37	12	52182482	52182482	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr12:52182482A>C	ENST00000354534.6	+	23	4409	c.4231A>C	c.(4231-4233)Acc>Ccc	p.T1411P	SCN8A_ENST00000545061.1_Missense_Mutation_p.T1370P	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1411					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TTGCCAGGCAACCTTCAAAGG	0.507																																						dbGAP											0													86.0	85.0	85.0					12																	52182482		2200	4300	6500	-	-	-	SO:0001583	missense	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4231A>C	12.37:g.52182482A>C	ENSP00000346534:p.Thr1411Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.T1411P	ENST00000354534.6	37	c.4231	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472582	0.84640	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133	D;D;D	0.98914	-5.23;-5.23;-5.23	4.1	4.1	0.47936	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	H	0.99974	5.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.96795	0.9585	10	0.87932	D	0	.	14.1419	0.65325	1.0:0.0:0.0:0.0	.	1370;1411	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	P	1411;1370;1370	ENSP00000346534:T1411P;ENSP00000440360:T1370P;ENSP00000347255:T1370P	ENSP00000346534:T1411P	T	+	1	0	SCN8A	50468749	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.954000	0.93051	2.086000	0.62901	0.533000	0.62120	ACC	SCN8A	-	pfam_Ion_trans_dom	ENSG00000196876		0.507	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	126	0.00	0	A	NM_014191		52182482	52182482	+1	no_errors	ENST00000354534	ensembl	human	known	69_37n	missense	22	58.49	31	SNP	1.000	C
SEZ6L	23544	genome.wustl.edu	37	22	26689012	26689012	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr22:26689012A>T	ENST00000248933.6	+	2	830	c.735A>T	c.(733-735)aaA>aaT	p.K245N	SEZ6L_ENST00000529632.2_Missense_Mutation_p.K245N|SEZ6L_ENST00000403121.1_Missense_Mutation_p.K18N|SEZ6L_ENST00000343706.4_Missense_Mutation_p.K245N|SEZ6L_ENST00000402979.1_Missense_Mutation_p.K18N|SEZ6L_ENST00000360929.3_Missense_Mutation_p.K245N|SEZ6L_ENST00000404234.3_Missense_Mutation_p.K245N			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	245					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGATGGACAAAGGTGAGAATG	0.642																																						dbGAP											0													51.0	42.0	45.0					22																	26689012		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.735A>T	22.37:g.26689012A>T	ENSP00000248933:p.Lys245Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.K245N	ENST00000248933.6	37	c.735	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	A	8.965	0.971452	0.18736	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.28666	1.89;2.01;2.08;1.9;1.65;1.6;1.83	4.91	1.08	0.20341	.	0.257379	0.27371	N	0.019668	T	0.17195	0.0413	N	0.08118	0	0.32374	N	0.555382	P;P;P;P;D;P;P	0.53462	0.799;0.799;0.608;0.902;0.96;0.799;0.799	B;B;B;B;P;B;B	0.53912	0.162;0.162;0.115;0.442;0.737;0.162;0.162	T	0.22452	-1.0216	10	0.16420	T	0.52	.	1.6246	0.02720	0.3855:0.153:0.3286:0.1329	.	245;245;18;245;245;245;245	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	N	245;245;245;245;245;18;18	ENSP00000384772:K245N;ENSP00000437037:K245N;ENSP00000354185:K245N;ENSP00000248933:K245N;ENSP00000342661:K245N;ENSP00000384838:K18N;ENSP00000384733:K18N	ENSP00000248933:K245N	K	+	3	2	SEZ6L	25019012	0.049000	0.20398	0.501000	0.27601	0.520000	0.34377	-0.329000	0.07935	0.228000	0.21019	0.416000	0.27883	AAA	SEZ6L	-	NULL	ENSG00000100095		0.642	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	162	0.00	0	A			26689012	26689012	+1	no_errors	ENST00000248933	ensembl	human	known	69_37n	missense	49	51.96	53	SNP	0.045	T
SIRPB1	10326	genome.wustl.edu	37	20	1600536	1600536	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr20:1600536G>C	ENST00000381605.4	-	1	119	c.55C>G	c.(55-57)Cta>Gta	p.L19V	SIRPB1_ENST00000381603.3_Missense_Mutation_p.L19V|SIRPB1_ENST00000279477.7_Missense_Mutation_p.L19V|SIRPB1_ENST00000568365.1_Missense_Mutation_p.L19V|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.L19V|SIRPB1_ENST00000381596.1_5'UTR	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	19					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCCAGCAGTAGCGTCATCAGC	0.572																																						dbGAP											0													99.0	87.0	91.0					20																	1600536		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.55C>G	20.37:g.1600536G>C	ENSP00000371018:p.Leu19Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.L19V	ENST00000381605.4	37	c.55	CCDS13019.1	20	.	.	.	.	.	.	.	.	.	.	.	11.61	1.690062	0.29962	.	.	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000279477;ENST00000381596	T;T;T	0.17528	3.28;3.93;2.27	1.85	1.85	0.25348	Immunoglobulin-like (2);	1.509230	0.04675	U	0.411260	T	0.37100	0.0991	M	0.77103	2.36	0.20703	N	0.999869	D;D;D	0.76494	0.999;0.983;0.999	D;P;D	0.87578	0.92;0.718;0.998	T	0.45862	-0.9232	10	0.06099	T	0.92	.	7.1839	0.25789	0.0:0.0:1.0:0.0	.	19;19;19	O00241;Q5TFQ8;O00241-2	SIRB1_HUMAN;SIRBL_HUMAN;.	V	19	ENSP00000371018:L19V;ENSP00000371016:L19V;ENSP00000279477:L19V	ENSP00000279477:L19V	L	-	1	2	SIRPB1	1548536	0.115000	0.22152	0.007000	0.13788	0.002000	0.02628	0.400000	0.20932	1.346000	0.45694	0.411000	0.27672	CTA	SIRPB1	-	pfscan_Ig-like	ENSG00000101307		0.572	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRPB1	HGNC	protein_coding	OTTHUMT00000077555.2	263	0.00	0	G	NM_006065		1600536	1600536	-1	no_errors	ENST00000279477	ensembl	human	known	69_37n	missense	146	37.34	87	SNP	0.008	C
SLC12A5	57468	genome.wustl.edu	37	20	44669237	44669237	+	Missense_Mutation	SNP	G	G	T	rs267605957		TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr20:44669237G>T	ENST00000454036.2	+	7	956	c.907G>T	c.(907-909)Gac>Tac	p.D303Y	SLC12A5_ENST00000372315.1_Missense_Mutation_p.D280Y|SLC12A5_ENST00000243964.3_Missense_Mutation_p.D280Y	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	303					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.D280N(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTCTGCCTTCGACCCACCCAA	0.562																																						dbGAP											2	Substitution - Missense(2)	NS(1)|prostate(1)											222.0	179.0	193.0					20																	44669237		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.907G>T	20.37:g.44669237G>T	ENSP00000387694:p.Asp303Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.D303Y	ENST00000454036.2	37	c.907	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	G	17.60	3.431034	0.62844	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000243964	D;D;D	0.93859	-1.93;-3.3;-1.92	4.96	4.96	0.65561	.	0.119854	0.56097	D	0.000030	D	0.95255	0.8461	M	0.69248	2.105	0.80722	D	1	D;P;P	0.53745	0.962;0.952;0.463	P;P;B	0.57152	0.814;0.717;0.233	D	0.95079	0.8211	10	0.51188	T	0.08	.	17.3986	0.87453	0.0:0.0:1.0:0.0	.	303;280;280	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	Y	303;280;280	ENSP00000387694:D303Y;ENSP00000361389:D280Y;ENSP00000243964:D280Y	ENSP00000243964:D280Y	D	+	1	0	SLC12A5	44102644	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.860000	0.86993	2.572000	0.86782	0.655000	0.94253	GAC	SLC12A5	-	prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.562	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	124	0.00	0	G			44669237	44669237	+1	no_errors	ENST00000454036	ensembl	human	known	69_37n	missense	55	32.93	27	SNP	1.000	T
SLC45A4	57210	genome.wustl.edu	37	8	142222615	142222615	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr8:142222615C>G	ENST00000024061.3	-	7	2136	c.1829G>C	c.(1828-1830)gGc>gCc	p.G610A	SLC45A4_ENST00000519067.1_Missense_Mutation_p.G610A|SLC45A4_ENST00000433583.2_Missense_Mutation_p.G603A|SLC45A4_ENST00000517878.1_Missense_Mutation_p.G661A	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ACAATCTATGCCAAACCCTCG	0.622																																						dbGAP											0													68.0	70.0	69.0					8																	142222615		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1829G>C	8.37:g.142222615C>G	ENSP00000024061:p.Gly610Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.G661A	ENST00000024061.3	37	c.1982	CCDS34948.1	8	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761596	0.69763	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.89935	0.6859	M	0.66378	2.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.90334	0.4354	10	0.52906	T	0.07	-44.3917	16.4331	0.83860	0.0:1.0:0.0:0.0	.	661;610;610	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	A	610;661;603;610	ENSP00000429059:G610A;ENSP00000428137:G661A;ENSP00000400799:G603A;ENSP00000024061:G610A	ENSP00000024061:G610A	G	-	2	0	SLC45A4	142291797	1.000000	0.71417	0.986000	0.45419	0.360000	0.29518	7.272000	0.78516	2.298000	0.77334	0.591000	0.81541	GGC	SLC45A4	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000022567		0.622	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	HGNC	protein_coding	OTTHUMT00000378571.3	87	0.00	0	C	XM_050325		142222615	142222615	-1	no_errors	ENST00000517878	ensembl	human	known	69_37n	missense	23	33.33	12	SNP	1.000	G
SNN	8303	genome.wustl.edu	37	16	11770041	11770041	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr16:11770041C>G	ENST00000329565.5	+	2	338	c.126C>G	c.(124-126)agC>agG	p.S42R	TXNDC11_ENST00000570917.1_5'Flank	NM_003498.5	NP_003489.1	O75324	SNN_HUMAN	stannin	42					response to abiotic stimulus (GO:0009628)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				endometrium(1)	1						AGCGCATCAGCCAGTCAGAGG	0.637																																						dbGAP											0													97.0	65.0	76.0					16																	11770041		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF030196	CCDS10549.1	16p13	2008-02-05			ENSG00000184602	ENSG00000184602			11149	protein-coding gene	gene with protein product		603032				9657854	Standard	NM_003498		Approved		uc002dbf.3	O75324	OTTHUMG00000090535	ENST00000329565.5:c.126C>G	16.37:g.11770041C>G	ENSP00000329287:p.Ser42Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUG4|Q6FGI0	Missense_Mutation	SNP	pfam_SNN_transmemb,pfam_SNN_linker,pfam_SNN_cytoplasm	p.S42R	ENST00000329565.5	37	c.126	CCDS10549.1	16	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698072	0.48307	.	.	ENSG00000184602	ENST00000329565	T	0.38722	1.12	5.48	5.48	0.80851	Stannin unstructured linker (1);	0.047558	0.85682	D	0.000000	T	0.64768	0.2628	.	.	.	0.58432	D	0.999996	D	0.60160	0.987	D	0.64687	0.928	T	0.66933	-0.5798	9	0.59425	D	0.04	-22.802	18.3493	0.90333	0.0:1.0:0.0:0.0	.	42	O75324	SNN_HUMAN	R	42	ENSP00000329287:S42R	ENSP00000329287:S42R	S	+	3	2	SNN	11677542	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.973000	0.49264	2.564000	0.86499	0.561000	0.74099	AGC	SNN	-	pfam_SNN_linker	ENSG00000184602		0.637	SNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNN	HGNC	protein_coding	OTTHUMT00000207059.1	102	0.00	0	C	NM_003498		11770041	11770041	+1	no_errors	ENST00000329565	ensembl	human	known	69_37n	missense	39	32.76	19	SNP	1.000	G
SNX13	23161	genome.wustl.edu	37	7	17915306	17915306	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr7:17915306T>A	ENST00000409389.1	-	6	720	c.548A>T	c.(547-549)gAt>gTt	p.D183V	SNX13_ENST00000428135.3_Missense_Mutation_p.D183V			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	183	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CACTTGATCATCTTTCTCTGT	0.308																																						dbGAP											0													155.0	136.0	142.0					7																	17915306		1820	4075	5895	-	-	-	SO:0001583	missense	0			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.548A>T	7.37:g.17915306T>A	ENSP00000386705:p.Asp183Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.D183V	ENST00000409389.1	37	c.548		7	.	.	.	.	.	.	.	.	.	.	T	14.03	2.414186	0.42817	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.18657	2.2;2.46	5.5	5.5	0.81552	Phox-associated domain (2);PX-associated, sorting nexin 13 (1);	0.651236	0.17403	N	0.175477	T	0.10895	0.0266	N	0.04508	-0.205	0.80722	D	1	B;B;B	0.15719	0.014;0.001;0.002	B;B;B	0.21360	0.034;0.021;0.008	T	0.17137	-1.0379	10	0.35671	T	0.21	-14.5895	10.3351	0.43846	0.0:0.0828:0.0:0.9171	.	183;183;183	Q9Y5W8;B8ZZT9;Q9Y5W8-2	SNX13_HUMAN;.;.	V	183;183;231	ENSP00000386705:D183V;ENSP00000398789:D183V	ENSP00000242044:D231V	D	-	2	0	SNX13	17881831	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.567000	0.67378	2.074000	0.62210	0.533000	0.62120	GAT	SNX13	-	pfam_Phox_assoc,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,pfscan_Phox_assoc	ENSG00000071189		0.308	SNX13-002	NOVEL	basic|exp_conf	protein_coding	SNX13	HGNC	protein_coding	OTTHUMT00000327608.1	767	0.00	0	T	NM_015132		17915306	17915306	-1	no_errors	ENST00000428135	ensembl	human	novel	69_37n	missense	326	16.41	64	SNP	1.000	A
STX10	8677	genome.wustl.edu	37	19	13260582	13260582	+	Silent	SNP	G	G	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr19:13260582G>T	ENST00000587230.1	-	2	229	c.165C>A	c.(163-165)cgC>cgA	p.R55R	STX10_ENST00000589083.1_Silent_p.R55R|STX10_ENST00000242770.5_Silent_p.R55R|IER2_ENST00000587885.1_5'Flank|STX10_ENST00000343587.5_Silent_p.R55R|IER2_ENST00000292433.3_5'Flank|IER2_ENST00000588173.1_5'Flank	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	55					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			ACTCGATGCTGCGCAGGCCAT	0.657											OREG0025290	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													86.0	77.0	80.0					19																	13260582		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.165C>A	19.37:g.13260582G>T		Somatic	686	WXS	Illumina GAIIx	Phase_IV	A6NC41|Q6IAP4|Q96AE8	Missense_Mutation	SNP	pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.Q40K	ENST00000587230.1	37	c.118	CCDS32922.1	19																																																																																			STX10	-	pfam_Syntaxin-6_N,superfamily_t-SNARE	ENSG00000104915		0.657	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STX10	HGNC	protein_coding	OTTHUMT00000452918.1	65	0.00	0	G	NM_003765		13260582	13260582	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000587318	ensembl	human	putative	69_37n	missense	23	51.06	24	SNP	0.967	T
SUV420H2	84787	genome.wustl.edu	37	19	55853589	55853590	+	Frame_Shift_Ins	INS	-	-	C	rs377718256		TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr19:55853589_55853590insC	ENST00000255613.3	+	3	365_366	c.117_118insC	c.(118-120)cccfs	p.P40fs	AC020922.1_ENST00000539076.1_Intron|SUV420H2_ENST00000402499.4_Intron	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	40					histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCAGCCCTGTGCCCCCCCTGCG	0.718																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"""Chromatin-modifying enzymes / K-methyltransferases"""	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.124dupC	19.37:g.55853596_55853596dupC	ENSP00000255613:p.Pro40fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WZ10|Q9BRZ6	Frame_Shift_Ins	INS	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.L41fs	ENST00000255613.3	37	c.117_118	CCDS12922.1	19																																																																																			SUV420H2	-	NULL	ENSG00000133247		0.718	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H2	HGNC	protein_coding	OTTHUMT00000318309.2	9	0.00	0	-	NM_032701		55853589	55853590	+1	no_errors	ENST00000255613	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.990:1.000	C
SYNJ1	8867	genome.wustl.edu	37	21	34099183	34099183	+	Silent	SNP	C	C	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr21:34099183C>T	ENST00000322229.7	-	1	23	c.24G>A	c.(22-24)cgG>cgA	p.R8R	SYNJ1_ENST00000382491.3_Silent_p.R8R|SYNJ1_ENST00000433931.2_Silent_p.R47R|SYNJ1_ENST00000382499.2_Silent_p.R47R|SYNJ1_ENST00000357345.3_Silent_p.R8R|PAXBP1-AS1_ENST00000458479.1_RNA|PAXBP1-AS1_ENST00000440052.1_RNA			O43426	SYNJ1_HUMAN	synaptojanin 1	8					cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TGTGATAGATCCGGAATCCTT	0.483																																						dbGAP											0													146.0	127.0	134.0					21																	34099183		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.24G>A	21.37:g.34099183C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O43425|O94984|Q4KMR1	Silent	SNP	pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.R47	ENST00000322229.7	37	c.141	CCDS54484.1	21																																																																																			SYNJ1	-	NULL	ENSG00000159082		0.483	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding		193	0.00	0	C			34099183	34099183	-1	no_errors	ENST00000433931	ensembl	human	known	69_37n	silent	35	22.22	10	SNP	0.989	T
TCEANC2	127428	genome.wustl.edu	37	1	54534542	54534542	+	Silent	SNP	C	C	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr1:54534542C>A	ENST00000234827.1	+	3	416	c.216C>A	c.(214-216)tcC>tcA	p.S72S	TCEANC2_ENST00000498272.1_Intron|TCEANC2_ENST00000371331.1_Silent_p.S102S	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	72	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|lung(3)|pancreas(1)	5						AAATACCCTCCAGGGAAGTGT	0.333																																						dbGAP											0													39.0	41.0	40.0					1																	54534542		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AK056674	CCDS587.1	1p32.3	2011-01-25	2011-01-25	2011-01-25	ENSG00000116205	ENSG00000116205			26494	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 83"""	C1orf83		12477932	Standard	NM_153035		Approved	FLJ32112	uc001cwt.1	Q96MN5	OTTHUMG00000008434	ENST00000234827.1:c.216C>A	1.37:g.54534542C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T702|Q8N8N2	Silent	SNP	pfam_TFIIS_N,superfamily_TFIIS_N,superfamily_TFIIS_cen_dom,smart_TFIIS/CRSP70_N_sub	p.S102	ENST00000234827.1	37	c.306	CCDS587.1	1																																																																																			TCEANC2	-	pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	ENSG00000116205		0.333	TCEANC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEANC2	HGNC	protein_coding	OTTHUMT00000023245.1	106	0.00	0	C	NM_153035		54534542	54534542	+1	no_errors	ENST00000371331	ensembl	human	known	69_37n	silent	42	46.15	36	SNP	0.999	A
TAGLN2	8407	genome.wustl.edu	37	1	159889125	159889125	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr1:159889125C>G	ENST00000368097.4	-	4	707	c.397G>C	c.(397-399)Ggt>Cgt	p.G133R	TAGLN2_ENST00000368096.1_Missense_Mutation_p.G154R|TAGLN2_ENST00000320307.4_Missense_Mutation_p.G133R|TAGLN2_ENST00000478033.1_5'UTR	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	133	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)				endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCAGCCCACCCAGATTCATC	0.582																																						dbGAP											0													80.0	78.0	79.0					1																	159889125		2203	4300	6503	-	-	-	SO:0001583	missense	0			D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"""SM22-alpha homolog"""	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.397G>C	1.37:g.159889125C>G	ENSP00000357077:p.Gly133Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Missense_Mutation	SNP	pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,prints_SM22_calponin,prints_Transgelin,pfscan_CH-domain,pfscan_Calponin_repeat	p.G154R	ENST00000368097.4	37	c.460	CCDS1189.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551552	0.86127	.	.	ENSG00000158710	ENST00000368097;ENST00000368096;ENST00000320307;ENST00000397334	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	4.56	4.56	0.56223	Calponin homology domain (3);	0.000000	0.50627	U	0.000116	D	0.97532	0.9192	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98050	1.0387	9	.	.	.	-10.5513	15.2192	0.73296	0.0:1.0:0.0:0.0	.	133	P37802	TAGL2_HUMAN	R	133;154;133;133	ENSP00000357077:G133R;ENSP00000357076:G154R;ENSP00000357075:G133R;ENSP00000412429:G133R	.	G	-	1	0	TAGLN2	158155749	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.098000	0.76974	2.525000	0.85131	0.655000	0.94253	GGT	TAGLN2	-	superfamily_CH-domain,prints_SM22_calponin,pfscan_CH-domain	ENSG00000158710		0.582	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAGLN2	HGNC	protein_coding	OTTHUMT00000059105.1	102	0.00	0	C	NM_003564		159889125	159889125	-1	no_errors	ENST00000368096	ensembl	human	known	69_37n	missense	88	17.76	19	SNP	1.000	G
TDRD5	163589	genome.wustl.edu	37	1	179632507	179632507	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr1:179632507G>A	ENST00000367614.1	+	15	2727	c.2368G>A	c.(2368-2370)Gat>Aat	p.D790N	TDRD5_ENST00000444136.1_Missense_Mutation_p.D844N|TDRD5_ENST00000294848.8_Missense_Mutation_p.D790N	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	790					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TACCCCTAAAGATACATGGGA	0.408																																						dbGAP											0													119.0	110.0	113.0					1																	179632507		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2368G>A	1.37:g.179632507G>A	ENSP00000356586:p.Asp790Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.D844N	ENST00000367614.1	37	c.2530	CCDS1332.1	1	.	.	.	.	.	.	.	.	.	.	G	8.252	0.809244	0.16537	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.35789	2.34;2.34;2.7;1.29	5.08	4.16	0.48862	.	0.860378	0.10395	N	0.679896	T	0.30916	0.0780	L	0.41710	1.295	0.09310	N	1	B;B	0.15141	0.001;0.012	B;B	0.17979	0.005;0.02	T	0.13150	-1.0520	10	0.72032	D	0.01	-39.5288	8.5001	0.33152	0.1042:0.0:0.8958:0.0	.	844;790	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	N	790;790;844;300	ENSP00000356586:D790N;ENSP00000294848:D790N;ENSP00000406052:D844N;ENSP00000410744:D300N	ENSP00000294848:D790N	D	+	1	0	TDRD5	177899130	0.776000	0.28616	0.056000	0.19401	0.187000	0.23431	2.295000	0.43576	2.355000	0.79922	0.637000	0.83480	GAT	TDRD5	-	NULL	ENSG00000162782		0.408	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	238	0.00	0	G	NM_173533		179632507	179632507	+1	no_errors	ENST00000444136	ensembl	human	known	69_37n	missense	137	29.02	56	SNP	0.032	A
TET3	200424	genome.wustl.edu	37	2	74274174	74274174	+	Missense_Mutation	SNP	C	C	A	rs202078503		TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr2:74274174C>A	ENST00000409262.3	+	1	725	c.725C>A	c.(724-726)aCc>aAc	p.T242N		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	242					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCTCATTCCACCCCCCAGGCT	0.592																																						dbGAP											0													45.0	49.0	48.0					2																	74274174		2042	4195	6237	-	-	-	SO:0001583	missense	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.725C>A	2.37:g.74274174C>A	ENSP00000386869:p.Thr242Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NULL	p.T242N	ENST00000409262.3	37	c.725	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409784	0.25465	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.25414	1.8;2.65	4.45	4.45	0.53987	.	.	.	.	.	T	0.12987	0.0315	N	0.08118	0	0.27069	N	0.963367	B	0.30455	0.28	B	0.27500	0.08	T	0.08576	-1.0715	9	0.15499	T	0.54	.	12.798	0.57569	0.0:0.8342:0.1658:0.0	.	242	O43151	TET3_HUMAN	N	284;242;242	ENSP00000307803:T284N;ENSP00000386869:T242N	ENSP00000233310:T242N	T	+	2	0	TET3	74127682	0.453000	0.25721	0.996000	0.52242	0.992000	0.81027	1.232000	0.32636	2.768000	0.95171	0.561000	0.74099	ACC	TET3	-	NULL	ENSG00000187605		0.592	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	71	0.00	0	C			74274174	74274174	+1	no_errors	ENST00000409262	ensembl	human	known	69_37n	missense	28	37.78	17	SNP	0.957	A
TNRC18	84629	genome.wustl.edu	37	7	5352742	5352742	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr7:5352742C>A	ENST00000430969.1	-	27	8128	c.7780G>T	c.(7780-7782)Ggc>Tgc	p.G2594C	TNRC18_ENST00000399537.4_Missense_Mutation_p.G2594C	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2594	Ser-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTGCCGCAGCCCCCGTCCCCG	0.687																																						dbGAP											0													8.0	14.0	12.0					7																	5352742		1317	3040	4357	-	-	-	SO:0001583	missense	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7780G>T	7.37:g.5352742C>A	ENSP00000395538:p.Gly2594Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.G2594C	ENST00000430969.1	37	c.7780	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	N	0.934	-0.711739	0.03206	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.05580	3.42;3.42	3.03	2.12	0.27331	.	.	.	.	.	T	0.05456	0.0144	N	0.22421	0.69	0.20764	N	0.999859	B	0.06786	0.001	B	0.04013	0.001	T	0.34428	-0.9829	9	0.56958	D	0.05	.	11.1239	0.48306	0.0:0.9025:0.0:0.0975	.	2594	O15417	TNC18_HUMAN	C	2594	ENSP00000382452:G2594C;ENSP00000395538:G2594C	ENSP00000382452:G2594C	G	-	1	0	TNRC18	5319268	0.432000	0.25554	0.071000	0.20095	0.008000	0.06430	1.960000	0.40422	0.810000	0.34279	0.555000	0.69702	GGC	TNRC18	-	NULL	ENSG00000182095		0.687	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		13	0.00	0	C			5352742	5352742	-1	no_errors	ENST00000399537	ensembl	human	known	69_37n	missense	29	23.68	9	SNP	0.540	A
TP53	7157	genome.wustl.edu	37	17	7578218	7578218	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr17:7578218delT	ENST00000269305.4	-	6	820	c.631delA	c.(631-633)actfs	p.T211fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.T211fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.T211fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.T211fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.T211fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.T211fs	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	211	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(5)|p.T211fs*36(2)|p.R209fs*35(2)|p.T211A(2)|p.T211fs*4(2)|p.T211fs*5(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.R209fs*36(1)|p.T211P(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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)	TGTCGAAAAGTGTTTCTGTCA	0.532		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"""	33	Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Substitution - Missense(3)|Insertion - Frameshift(2)	biliary_tract(5)|large_intestine(4)|oesophagus(4)|bone(4)|breast(4)|stomach(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|soft_tissue(1)|thymus(1)|liver(1)|lung(1)|ovary(1)											141.0	125.0	130.0					17																	7578218		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	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.631delA	17.37:g.7578218delT	ENSP00000269305:p.Thr211fs	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	Frame_Shift_Del	DEL	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.T211fs	ENST00000269305.4	37	c.631	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	402	0.00	0	T	NM_000546		7578218	7578218	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_del	93	63.02	196	DEL	0.993	-
TTN	7273	genome.wustl.edu	37	2	179442477	179442477	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr2:179442477G>C	ENST00000591111.1	-	273	63977	c.63753C>G	c.(63751-63753)aaC>aaG	p.N21251K	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N20324K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N14019K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N22892K|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N13952K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N13827K|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21251	Fibronectin type-III 54. {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)			CATTAACATGGTTGGCTTTCA	0.403																																						dbGAP											0													180.0	159.0	166.0					2																	179442477		1940	4135	6075	-	-	-	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.63753C>G	2.37:g.179442477G>C	ENSP00000465570:p.Asn21251Lys	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.N20324K	ENST00000591111.1	37	c.60972		2	.	.	.	.	.	.	.	.	.	.	G	9.070	0.996573	0.19043	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.68	1.9	0.25705	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52125	0.1715	M	0.83483	2.645	0.50813	D	0.999896	B;B;B;B	0.25048	0.117;0.117;0.117;0.067	B;B;B;B	0.26094	0.066;0.066;0.066;0.046	T	0.49835	-0.8897	9	0.87932	D	0	.	5.932	0.19144	0.3358:0.1288:0.5354:0.0	.	13827;13952;14019;21251	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	20324;13827;14019;13952;13825	ENSP00000343764:N20324K;ENSP00000434586:N13827K;ENSP00000340554:N14019K;ENSP00000352154:N13952K	ENSP00000340554:N14019K	N	-	3	2	TTN	179150723	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	1.136000	0.31467	0.077000	0.16863	-0.225000	0.12378	AAC	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	122	0.00	0	G	NM_133378		179442477	179442477	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	65	26.97	24	SNP	1.000	C
TUBA1B	10376	genome.wustl.edu	37	12	49523054	49523054	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr12:49523054C>G	ENST00000336023.5	-	3	440	c.346G>C	c.(346-348)Gac>Cac	p.D116H	RP11-386G11.10_ENST00000547712.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000551496.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	116					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						AACACAAGGTCAATGATCTCC	0.493																																						dbGAP											0													175.0	160.0	165.0					12																	49523054		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.346G>C	12.37:g.49523054C>G	ENSP00000336799:p.Asp116His	Somatic		WXS	Illumina GAIIx	Phase_IV	P04687|P05209|Q27I68|Q8WU19	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.D116H	ENST00000336023.5	37	c.346	CCDS31792.1	12	.	.	.	.	.	.	.	.	.	.	c	15.57	2.872278	0.51695	.	.	ENSG00000123416	ENST00000336023;ENST00000550367;ENST00000549870	T;T;T	0.71461	-0.57;-0.57;-0.57	4.92	4.92	0.64577	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.46145	U	0.000312	D	0.88713	0.6511	H	0.97918	4.105	0.80722	D	1	P	0.52170	0.951	P	0.58077	0.832	D	0.93109	0.6515	10	0.87932	D	0	.	16.9649	0.86283	0.0:1.0:0.0:0.0	.	116	P68363	TBA1B_HUMAN	H	116;116;81	ENSP00000336799:D116H;ENSP00000449325:D116H;ENSP00000449460:D81H	ENSP00000336799:D116H	D	-	1	0	TUBA1B	47809321	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.625000	0.83145	2.292000	0.77174	0.650000	0.86243	GAC	TUBA1B	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin	ENSG00000123416		0.493	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA1B	HGNC	protein_coding	OTTHUMT00000409005.1	169	0.00	0	C	NM_006082		49523054	49523054	-1	no_errors	ENST00000336023	ensembl	human	known	69_37n	missense	75	19.35	18	SNP	1.000	G
TULP4	56995	genome.wustl.edu	37	6	158924964	158924964	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr6:158924964C>A	ENST00000367097.3	+	13	5626	c.4269C>A	c.(4267-4269)agC>agA	p.S1423R	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1423					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TGAACCAGAGCCAGGGCAGCA	0.607																																						dbGAP											0													46.0	53.0	50.0					6																	158924964		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.4269C>A	6.37:g.158924964C>A	ENSP00000356064:p.Ser1423Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1423R	ENST00000367097.3	37	c.4269	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116408	0.56505	.	.	ENSG00000130338	ENST00000367097	T	0.62788	0.0	5.52	5.52	0.82312	.	0.129945	0.64402	D	0.000001	T	0.37625	0.1010	N	0.14661	0.345	0.80722	D	1	B	0.32425	0.371	B	0.36989	0.238	T	0.48258	-0.9051	10	0.59425	D	0.04	-17.2719	15.0159	0.71584	0.0:0.9296:0.0:0.0704	.	1423	Q9NRJ4	TULP4_HUMAN	R	1423	ENSP00000356064:S1423R	ENSP00000356064:S1423R	S	+	3	2	TULP4	158844952	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.439000	0.59968	2.756000	0.94617	0.561000	0.74099	AGC	TULP4	-	NULL	ENSG00000130338		0.607	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	100	0.00	0	C	NM_020245		158924964	158924964	+1	no_errors	ENST00000367097	ensembl	human	known	69_37n	missense	8	68.00	17	SNP	1.000	A
UNC13A	23025	genome.wustl.edu	37	19	17768991	17768991	+	Missense_Mutation	SNP	G	G	A	rs560413297		TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr19:17768991G>A	ENST00000519716.2	-	9	646	c.647C>T	c.(646-648)aCg>aTg	p.T216M	UNC13A_ENST00000551649.1_Missense_Mutation_p.T216M|UNC13A_ENST00000252773.7_Missense_Mutation_p.T216M|UNC13A_ENST00000428389.2_Missense_Mutation_p.T304M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T216M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T216M	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	216					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGGTTGTGACGTAGTATAATA	0.562																																						dbGAP											0													137.0	140.0	139.0					19																	17768991		2112	4227	6339	-	-	-	SO:0001583	missense	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.647C>T	19.37:g.17768991G>A	ENSP00000429562:p.Thr216Met	Somatic		WXS	Illumina GAIIx	Phase_IV	E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.T304M	ENST00000519716.2	37	c.911	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412970	0.62511	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.84800	-1.86;-1.9;-1.86;-1.73;-1.72;-1.84	4.63	4.63	0.57726	.	0.000000	0.85682	U	0.000000	D	0.90662	0.7071	M	0.65498	2.005	0.47621	D	0.999479	D	0.89917	1.0	D	0.80764	0.994	D	0.90054	0.4151	10	0.38643	T	0.18	-9.1899	14.9688	0.71217	0.0:0.0:1.0:0.0	.	216	Q9UPW8	UN13A_HUMAN	M	216;304;216;216;216;216	ENSP00000429562:T216M;ENSP00000400409:T304M;ENSP00000252773:T216M;ENSP00000447236:T216M;ENSP00000447572:T216M;ENSP00000446831:T216M	ENSP00000252773:T216M	T	-	2	0	UNC13A	17629991	1.000000	0.71417	0.591000	0.28745	0.391000	0.30476	7.822000	0.86651	2.141000	0.66446	0.484000	0.47621	ACG	UNC13A	-	NULL	ENSG00000130477		0.562	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	99	0.00	0	G	XM_038604		17768991	17768991	-1	no_errors	ENST00000428389	ensembl	human	known	69_37n	missense	74	20.43	19	SNP	1.000	A
USH2A	7399	genome.wustl.edu	37	1	216062079	216062079	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr1:216062079T>G	ENST00000307340.3	-	41	8298	c.7912A>C	c.(7912-7914)Aca>Cca	p.T2638P	USH2A_ENST00000366943.2_Missense_Mutation_p.T2638P|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2638	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCACAGATGTTGGAGTATCA	0.483										HNSCC(13;0.011)																												dbGAP											0													85.0	90.0	89.0					1																	216062079		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7912A>C	1.37:g.216062079T>G	ENSP00000305941:p.Thr2638Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.T2638P	ENST00000307340.3	37	c.7912	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.106290	0.77096	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.61980	0.06;0.06	5.84	4.72	0.59763	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.44285	D	0.000476	T	0.79227	0.4410	M	0.83603	2.65	0.54753	D	0.999983	D	0.89917	1.0	D	0.85130	0.997	T	0.81113	-0.1080	10	0.72032	D	0.01	.	11.5864	0.50920	0.0:0.0692:0.0:0.9308	.	2638	O75445	USH2A_HUMAN	P	2638	ENSP00000305941:T2638P;ENSP00000355910:T2638P	ENSP00000305941:T2638P	T	-	1	0	USH2A	214128702	1.000000	0.71417	0.079000	0.20413	0.888000	0.51559	3.683000	0.54663	1.043000	0.40175	0.533000	0.62120	ACA	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	329	0.00	0	T	NM_007123		216062079	216062079	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	156	36.07	88	SNP	0.997	G
WDR48	57599	genome.wustl.edu	37	3	39118666	39118666	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr3:39118666A>G	ENST00000302313.5	+	9	962	c.934A>G	c.(934-936)Att>Gtt	p.I312V	WDR48_ENST00000544962.1_Missense_Mutation_p.I104V|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.I230V	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	312					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCCTCCTGCAATTTGGGTTGC	0.383																																						dbGAP											0													108.0	108.0	108.0					3																	39118666		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.934A>G	3.37:g.39118666A>G	ENSP00000307491:p.Ile312Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I312V	ENST00000302313.5	37	c.934	CCDS33738.1	3	.	.	.	.	.	.	.	.	.	.	A	12.94	2.089722	0.36855	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;T;T	0.19105	2.17;2.19;2.22	6.16	0.776	0.18532	WD40 repeat-like-containing domain (1);	0.093251	0.64402	D	0.000001	T	0.13286	0.0322	L	0.31926	0.97	0.80722	D	1	B;B;B;B	0.21688	0.0;0.005;0.028;0.059	B;B;B;B	0.21360	0.001;0.012;0.034;0.021	T	0.11227	-1.0596	10	0.24483	T	0.36	-7.7217	8.6391	0.33966	0.6433:0.2149:0.1419:0.0	.	104;230;303;312	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	V	312;104;230	ENSP00000307491:I312V;ENSP00000445187:I104V;ENSP00000379557:I230V	ENSP00000307491:I312V	I	+	1	0	WDR48	39093670	0.965000	0.33210	0.995000	0.50966	0.944000	0.59088	1.846000	0.39289	0.568000	0.29311	0.528000	0.53228	ATT	WDR48	-	superfamily_WD40_repeat_dom	ENSG00000114742		0.383	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR48	HGNC	protein_coding	OTTHUMT00000342529.1	119	0.00	0	A	NM_020839		39118666	39118666	+1	no_errors	ENST00000302313	ensembl	human	known	69_37n	missense	24	55.56	30	SNP	0.478	G
WIPF2	147179	genome.wustl.edu	37	17	38412741	38412741	+	Silent	SNP	A	A	T			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr17:38412741A>T	ENST00000323571.4	+	2	270	c.30A>T	c.(28-30)ccA>ccT	p.P10P	WIPF2_ENST00000536600.1_Silent_p.P10P|WIPF2_ENST00000585043.1_Silent_p.P10P|WIPF2_ENST00000494757.1_Intron|WIPF2_ENST00000583130.1_Silent_p.P10P|WIPF2_ENST00000394103.3_Silent_p.P10P	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	10	Poly-Pro.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CGCCACCCCCACCTGGTCCTC	0.488										HNSCC(43;0.11)																												dbGAP											0													105.0	95.0	98.0					17																	38412741		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.30A>T	17.37:g.38412741A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0L3|Q658J8|Q71RE1|Q8TE44	Silent	SNP	smart_WH2_dom,pfscan_WH2_dom	p.P10	ENST00000323571.4	37	c.30	CCDS11364.1	17																																																																																			WIPF2	-	NULL	ENSG00000171475		0.488	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WIPF2	HGNC	protein_coding	OTTHUMT00000257157.2	218	0.00	0	A	NM_133264		38412741	38412741	+1	no_errors	ENST00000323571	ensembl	human	known	69_37n	silent	43	61.61	69	SNP	0.038	T
ZNF66	7617	genome.wustl.edu	37	19	20989903	20989903	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr19:20989903T>A	ENST00000344519.8	+	4	1520	c.1497T>A	c.(1495-1497)caT>caA	p.H499Q	ZNF66_ENST00000425625.1_Intron|AC010329.1_ENST00000582722.1_RNA			Q6ZN08	ZNF66_HUMAN	zinc finger protein 66	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTACTACACATAAGAGAATTC	0.363																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			M88375		19p12	2013-03-06	2013-03-06	2013-03-06	ENSG00000160229	ENSG00000160229			13135	other	unknown			"""zinc finger protein 66, pseudogene"""	ZNF66P		1505991	Standard	NG_023377		Approved	FLJ16537	uc002npe.3	Q6ZN08	OTTHUMG00000167735	ENST00000344519.8:c.1497T>A	19.37:g.20989903T>A	ENSP00000461425:p.His499Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	I3L4P5|Q15939	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H499Q	ENST00000344519.8	37	c.1497		19																																																																																			ZNF66P	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160229		0.363	ZNF66-001	KNOWN	basic|appris_principal	protein_coding	ZNF66P	HGNC	protein_coding	OTTHUMT00000395955.2	31	0.00	0	T	NG_023377		20989903	20989903	+1	no_errors	ENST00000344519	ensembl	human	novel	69_37n	missense	31	18.42	7	SNP	0.855	A
ZNF687	57592	genome.wustl.edu	37	1	151259889	151259889	+	Silent	SNP	C	C	G			TCGA-AO-A0J6-01A-11W-A050-09	TCGA-AO-A0J6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7d21a0c4-03c7-4641-8b4d-7a5877960360	2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d	g.chr1:151259889C>G	ENST00000368879.2	+	2	1220	c.1122C>G	c.(1120-1122)tcC>tcG	p.S374S		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGAAGCTGTCCCCTGCAACAC	0.567																																						dbGAP											0													70.0	63.0	65.0					1																	151259889		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1122C>G	1.37:g.151259889C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV17|Q68DQ8|Q9H937|Q9P2A7	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S374	ENST00000368879.2	37	c.1122		1																																																																																			ZNF687	-	NULL	ENSG00000143373		0.567	ZNF687-201	KNOWN	basic	protein_coding	ZNF687	HGNC	protein_coding		74	0.00	0	C	NM_020832		151259889	151259889	+1	no_errors	ENST00000324048	ensembl	human	known	69_37n	silent	46	32.35	22	SNP	1.000	G
