#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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCG8	64241	genome.wustl.edu	37	2	44073355	44073355	+	Missense_Mutation	SNP	C	C	T	rs554837252		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:44073355C>T	ENST00000272286.2	+	3	317	c.227C>T	c.(226-228)aCa>aTa	p.T76I		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	76	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.T76I(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	ATGCCCTGGACATCTCCCAGC	0.537																																																	1	Substitution - Missense(1)	cervix(1)											66.0	64.0	65.0					2																	44073355		2203	4300	6503	SO:0001583	missense	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.227C>T	2.37:g.44073355C>T	ENSP00000272286:p.Thr76Ile		Q53QN8	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like	p.T76I	ENST00000272286.2	37	c.227	CCDS1815.1	2	.	.	.	.	.	.	.	.	.	.	C	4.912	0.169547	0.09339	.	.	ENSG00000143921	ENST00000272286	D	0.88124	-2.34	5.69	-2.53	0.06326	ABC transporter-like (1);	1.501700	0.03375	N	0.199515	T	0.70456	0.3226	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.56589	-0.7954	10	0.36615	T	0.2	.	1.1135	0.01709	0.224:0.3217:0.1072:0.3471	.	76;76	Q9H221-2;Q9H221	.;ABCG8_HUMAN	I	76	ENSP00000272286:T76I	ENSP00000272286:T76I	T	+	2	0	ABCG8	43926859	.	.	0.001000	0.08648	0.145000	0.21501	.	.	-0.325000	0.08577	0.650000	0.86243	ACA	ABCG8	-	pfscan_ABC_transporter-like		0.537	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	HGNC	protein_coding	OTTHUMT00000250671.1	C	NM_022437		44073355	+1	no_errors	ENST00000272286	ensembl	human	known	70_37	missense	SNP	0.000	T
ACACA	31	genome.wustl.edu	37	17	35486321	35486321	+	Silent	SNP	G	G	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr17:35486321G>T	ENST00000394406.2	-	47	5993	c.5803C>A	c.(5803-5805)Cga>Aga	p.R1935R	ACACA_ENST00000353139.5_Silent_p.R1972R|ACACA_ENST00000335166.5_Silent_p.R1857R|ACACA_ENST00000360679.3_Silent_p.R1877R|ACACA_ENST00000361253.5_Silent_p.R61R	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1935	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGCATCCATCGAGGATCGTAT	0.463																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													142.0	115.0	124.0					17																	35486321		2203	4300	6503	SO:0001819	synonymous_variant	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5803C>A	17.37:g.35486321G>T			B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.R1972	ENST00000394406.2	37	c.5914	CCDS11317.1	17																																																																																			ACACA	-	pfam_Carboxyl_trans,pfscan_COA_CT_C		0.463	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	G	NM_198836		35486321	-1	no_errors	ENST00000353139	ensembl	human	known	70_37	silent	SNP	0.997	T
ADAMTS2	9509	genome.wustl.edu	37	5	178541064	178541064	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:178541064G>T	ENST00000251582.7	-	22	3541	c.3440C>A	c.(3439-3441)tCc>tAc	p.S1147Y		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1147					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S1147Y(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATTGGTGCTGGAGGCATTGAG	0.557																																																	1	Substitution - Missense(1)	cervix(1)											204.0	190.0	195.0					5																	178541064		2203	4300	6503	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3440C>A	5.37:g.178541064G>T	ENSP00000251582:p.Ser1147Tyr			Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.S1147Y	ENST00000251582.7	37	c.3440	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359570	0.41801	.	.	ENSG00000087116	ENST00000251582	T	0.60424	0.19	5.05	4.05	0.47172	.	0.150804	0.30611	N	0.009251	T	0.48960	0.1529	L	0.27053	0.805	0.28039	N	0.933828	P	0.51653	0.947	P	0.47744	0.556	T	0.48958	-0.8988	10	0.56958	D	0.05	.	10.9156	0.47135	0.1284:0.0:0.8716:0.0	.	1147	O95450	ATS2_HUMAN	Y	1147	ENSP00000251582:S1147Y	ENSP00000251582:S1147Y	S	-	2	0	ADAMTS2	178473670	0.996000	0.38824	0.685000	0.30070	0.337000	0.28794	4.946000	0.63576	2.308000	0.77769	0.561000	0.74099	TCC	ADAMTS2	-	NULL		0.557	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	G	NM_014244		178541064	-1	no_errors	ENST00000251582	ensembl	human	known	70_37	missense	SNP	0.027	T
ADCY4	196883	genome.wustl.edu	37	14	24787690	24787690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:24787690G>A	ENST00000310677.4	-	26	3279	c.3166C>T	c.(3166-3168)Cag>Tag	p.Q1056*	ADCY4_ENST00000554068.2_Nonsense_Mutation_p.Q1056*|ADCY4_ENST00000418030.2_Nonsense_Mutation_p.Q1056*	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1056					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.Q1056*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GTGCAGAGCTGCCCTTTGCCT	0.542																																																	1	Substitution - Nonsense(1)	cervix(1)											144.0	128.0	134.0					14																	24787690		2203	4300	6503	SO:0001587	stop_gained	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.3166C>T	14.37:g.24787690G>A	ENSP00000312126:p.Gln1056*		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Nonsense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.Q1056*	ENST00000310677.4	37	c.3166	CCDS9627.1	14	.	.	.	.	.	.	.	.	.	.	G	40	8.267992	0.98735	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	.	.	.	5.52	4.62	0.57501	.	0.158904	0.29752	N	0.011291	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	14.3768	0.66884	0.0:0.1485:0.8515:0.0	.	.	.	.	X	1056	.	ENSP00000312126:Q1056X	Q	-	1	0	ADCY4	23857530	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.638000	0.61353	1.281000	0.44480	0.655000	0.94253	CAG	ADCY4	-	pfam_A/G_cyclase,superfamily_A/G_cyclase		0.542	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4	G			24787690	-1	no_errors	ENST00000310677	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ADCY9	115	genome.wustl.edu	37	16	4165289	4165289	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr16:4165289G>C	ENST00000294016.3	-	2	693	c.155C>G	c.(154-156)tCt>tGt	p.S52C		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	52					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.S52C(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCTGCAGCTAGAGGAGATGCT	0.662																																																	1	Substitution - Missense(1)	cervix(1)											80.0	60.0	67.0					16																	4165289		2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.155C>G	16.37:g.4165289G>C	ENSP00000294016:p.Ser52Cys		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S52C	ENST00000294016.3	37	c.155	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851235	0.51270	.	.	ENSG00000162104	ENST00000294016	T	0.30448	1.53	4.82	4.82	0.62117	.	0.119337	0.64402	D	0.000017	T	0.51618	0.1685	L	0.54323	1.7	0.45150	D	0.998166	D	0.89917	1.0	D	0.83275	0.996	T	0.51988	-0.8635	10	0.52906	T	0.07	.	16.8996	0.86110	0.0:0.0:1.0:0.0	.	52	O60503	ADCY9_HUMAN	C	52	ENSP00000294016:S52C	ENSP00000294016:S52C	S	-	2	0	ADCY9	4105290	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	6.381000	0.73163	2.237000	0.73441	0.555000	0.69702	TCT	ADCY9	-	NULL		0.662	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	G			4165289	-1	no_errors	ENST00000294016	ensembl	human	known	70_37	missense	SNP	1.000	C
ADSL	158	genome.wustl.edu	37	22	40759015	40759015	+	Silent	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr22:40759015C>T	ENST00000216194.7	+	10	1097	c.1041C>T	c.(1039-1041)acC>acT	p.T347T	ADSL_ENST00000454266.2_Silent_p.T361T|ADSL_ENST00000342312.6_Silent_p.T347T	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	347					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)	p.T347T(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CATTTCTTACCGCAGATACTA	0.403																																					Colon(4;65 130 1097 1516)												2	Substitution - coding silent(2)	cervix(2)											216.0	214.0	215.0					22																	40759015		2203	4300	6503	SO:0001819	synonymous_variant	158			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.1041C>T	22.37:g.40759015C>T			B0QY76|O75495|Q5TI34	Silent	SNP	pfam_Lyase1_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,prints_D_crystallin,tigrfam_Pur_lyase	p.T361	ENST00000216194.7	37	c.1083	CCDS14001.1	22																																																																																			ADSL	-	superfamily_L-Aspartase-like,tigrfam_Pur_lyase		0.403	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADSL	HGNC	protein_coding	OTTHUMT00000321386.1	C	NM_000026		40759015	+1	no_errors	ENST00000454266	ensembl	human	known	70_37	silent	SNP	0.407	T
AFF3	3899	genome.wustl.edu	37	2	100623769	100623769	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:100623769C>T	ENST00000409236.2	-	4	440	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	AFF3_ENST00000317233.4_Missense_Mutation_p.E110K|AFF3_ENST00000409579.1_Missense_Mutation_p.E135K|AFF3_ENST00000356421.2_Missense_Mutation_p.E135K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	110					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.E135K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACAAAATGTTCATCGATCTTG	0.468																																																	1	Substitution - Missense(1)	cervix(1)											110.0	120.0	117.0					2																	100623769		2203	4300	6503	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.328G>A	2.37:g.100623769C>T	ENSP00000387207:p.Glu110Lys		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.E135K	ENST00000409236.2	37	c.403	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454399	0.63290	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288;ENST00000432037;ENST00000423966;ENST00000441400;ENST00000424600	T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.21	5.21	0.72293	.	0.205958	0.34088	N	0.004275	T	0.52092	0.1713	N	0.22421	0.69	0.34232	D	0.676585	P;P;P;P;P	0.43938	0.684;0.493;0.822;0.549;0.493	B;B;P;B;B	0.45753	0.423;0.053;0.492;0.089;0.053	T	0.57797	-0.7749	10	0.16420	T	0.52	.	14.6967	0.69126	0.0:0.8551:0.1449:0.0	.	264;264;110;110;135	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	K	110;135;135;110;110;264;135;110;110;110;110	ENSP00000317421:E110K;ENSP00000348793:E135K;ENSP00000386834:E135K;ENSP00000387207:E110K;ENSP00000406484:E110K;ENSP00000396582:E110K;ENSP00000399795:E110K;ENSP00000411383:E110K	ENSP00000317421:E110K	E	-	1	0	AFF3	99990201	1.000000	0.71417	0.635000	0.29338	0.951000	0.60555	5.978000	0.70501	2.579000	0.87056	0.585000	0.79938	GAA	AFF3	-	pfam_TF_AF4/FMR2		0.468	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	C	NM_002285		100623769	-1	no_errors	ENST00000356421	ensembl	human	known	70_37	missense	SNP	0.953	T
AHNAK2	113146	genome.wustl.edu	37	14	105418845	105418845	+	Silent	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:105418845C>T	ENST00000333244.5	-	7	3062	c.2943G>A	c.(2941-2943)gaG>gaA	p.E981E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	981						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.E981E(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACAGGTCCCCCTCCAGCCACG	0.622																																																	1	Substitution - coding silent(1)	cervix(1)											209.0	236.0	227.0					14																	105418845		2040	4189	6229	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2943G>A	14.37:g.105418845C>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E981	ENST00000333244.5	37	c.2943	CCDS45177.1	14																																																																																			AHNAK2	-	NULL		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105418845	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	silent	SNP	0.065	T
ALCAM	214	genome.wustl.edu	37	3	105266097	105266097	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr3:105266097G>C	ENST00000306107.5	+	10	1709	c.1209G>C	c.(1207-1209)aaG>aaC	p.K403N	ALCAM_ENST00000486979.2_Missense_Mutation_p.K352N|ALCAM_ENST00000389927.4_Missense_Mutation_p.K125N|ALCAM_ENST00000472644.2_Missense_Mutation_p.K403N	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	403	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)	p.K403N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAGGACTAAAGAAAAGAGAGT	0.378																																																	1	Substitution - Missense(1)	cervix(1)											65.0	68.0	67.0					3																	105266097		2202	4297	6499	SO:0001583	missense	214			AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1209G>C	3.37:g.105266097G>C	ENSP00000305988:p.Lys403Asn		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like	p.K403N	ENST00000306107.5	37	c.1209	CCDS33810.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.71|14.71	2.617281|2.617281	0.46736|0.46736	.|.	.|.	ENSG00000170017|ENSG00000170017	ENST00000465413|ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927	.|T;T;T;T	.|0.13538	.|2.58;2.58;2.58;2.58	5.47|5.47	4.6|4.6	0.57074|0.57074	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.460397	.|0.26307	.|N	.|0.025125	T|T	0.18882|0.18882	0.0453|0.0453	L|L	0.43152|0.43152	1.355|1.355	0.52099|0.52099	D|D	0.99994|0.99994	.|P;P;P	.|0.47484	.|0.896;0.896;0.896	.|P;P;P	.|0.51550	.|0.673;0.673;0.673	T|T	0.01516|0.01516	-1.1335|-1.1335	5|10	.|0.33141	.|T	.|0.24	-12.5993|-12.5993	10.5977|10.5977	0.45347|0.45347	0.1471:0.0:0.8529:0.0|0.1471:0.0:0.8529:0.0	.|.	.|125;403;403	.|Q6ZS95;B4DTU0;Q13740	.|.;.;CD166_HUMAN	Q|N	164|403;403;352;125	.|ENSP00000305988:K403N;ENSP00000419236:K403N;ENSP00000418213:K352N;ENSP00000374577:K125N	.|ENSP00000305988:K403N	E|K	+|+	1|3	0|2	ALCAM|ALCAM	106748787|106748787	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.226000|3.226000	0.51254|0.51254	1.450000|1.450000	0.47717|0.47717	0.591000|0.591000	0.81541|0.81541	GAA|AAG	ALCAM	-	smart_Ig_sub,pfscan_Ig-like		0.378	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALCAM	HGNC	protein_coding	OTTHUMT00000353764.1	G	NM_001627		105266097	+1	no_errors	ENST00000306107	ensembl	human	known	70_37	missense	SNP	1.000	C
APBB2	323	genome.wustl.edu	37	4	41016329	41016329	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:41016329G>T	ENST00000295974.8	-	6	735	c.106C>A	c.(106-108)Cca>Aca	p.P36T	APBB2_ENST00000506352.1_Missense_Mutation_p.P36T|APBB2_ENST00000508593.1_Missense_Mutation_p.P36T|APBB2_ENST00000513140.1_Missense_Mutation_p.P36T	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	36					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)	p.P36T(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AGGGTGTTTGGTGGTGTGGCT	0.483																																					Ovarian(3;20 75 16686 49997)												1	Substitution - Missense(1)	cervix(1)											165.0	163.0	163.0					4																	41016329		2038	4194	6232	SO:0001583	missense	323			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.106C>A	4.37:g.41016329G>T	ENSP00000295974:p.Pro36Thr		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.P36T	ENST00000295974.8	37	c.106	CCDS54761.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.26|19.26	3.792753|3.792753	0.70452|0.70452	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352;ENST00000509446;ENST00000508707;ENST00000503264|ENST00000513611	T;T;T;T;T;T|.	0.23552|.	1.9;1.9;1.9;1.9;1.9;1.9|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59985|0.59985	0.2234|0.2234	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.991;0.999;0.999;0.999|.	T|T	0.54268|0.54268	-0.8319|-0.8319	10|5	0.66056|.	D|.	0.02|.	-12.8813|-12.8813	19.1575|19.1575	0.93517|0.93517	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	19;36;36;36|.	B4DJ88;E9PG87;Q92870-2;Q92870|.	.;.;.;APBB2_HUMAN|.	T|N	36;35;36;36;36;19;36;19|25	ENSP00000295974:P36T;ENSP00000426018:P36T;ENSP00000427211:P36T;ENSP00000421539:P36T;ENSP00000424414:P19T;ENSP00000424579:P36T|.	ENSP00000295974:P36T|.	P|T	-|-	1|2	0|0	APBB2|APBB2	40711086|40711086	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.566000|0.566000	0.35808|0.35808	9.827000|9.827000	0.99397|0.99397	2.537000|2.537000	0.85549|0.85549	0.561000|0.561000	0.74099|0.74099	CCA|ACC	APBB2	-	NULL		0.483	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	APBB2	HGNC	protein_coding	OTTHUMT00000360523.3	G	NM_173075		41016329	-1	no_errors	ENST00000295974	ensembl	human	known	70_37	missense	SNP	1.000	T
APC	324	genome.wustl.edu	37	5	112174700	112174700	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:112174700G>C	ENST00000457016.1	+	16	3789	c.3409G>C	c.(3409-3411)Gat>Cat	p.D1137H	APC_ENST00000257430.4_Missense_Mutation_p.D1137H|APC_ENST00000508376.2_Missense_Mutation_p.D1137H|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1137	Asp/Glu-rich (acidic).|Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.D1137H(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGACTATGAAGATGATAAGCC	0.363		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	2	Substitution - Missense(1)|Unknown(1)	cervix(1)|skin(1)											69.0	64.0	66.0					5																	112174700		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3409G>C	5.37:g.112174700G>C	ENSP00000413133:p.Asp1137His		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D1137H	ENST00000457016.1	37	c.3409	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870293	0.51588	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	5.76	5.76	0.90799	.	0.167671	0.52532	D	0.000078	D	0.89350	0.6690	N	0.24115	0.695	0.51482	D	0.999929	P;D	0.63880	0.878;0.993	P;P	0.61477	0.845;0.889	D	0.90405	0.4405	10	0.72032	D	0.01	-22.4703	15.1528	0.72713	0.0694:0.0:0.9306:0.0	.	1139;1137	Q4LE70;P25054	.;APC_HUMAN	H	1137;1119;1137;1137;1137	ENSP00000413133:D1137H;ENSP00000423224:D1119H;ENSP00000257430:D1137H;ENSP00000427089:D1137H;ENSP00000423828:D1137H	ENSP00000257430:D1137H	D	+	1	0	APC	112202599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.842000	0.86851	2.732000	0.93576	0.655000	0.94253	GAT	APC	-	pfam_APC_15aa_rpt		0.363	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	G	NM_000038		112174700	+1	no_errors	ENST00000257430	ensembl	human	known	70_37	missense	SNP	1.000	C
AR	367	genome.wustl.edu	37	X	66931424	66931424	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chrX:66931424G>C	ENST00000374690.3	+	4	2590	c.2066G>C	c.(2065-2067)gGa>gCa	p.G689A	AR_ENST00000396044.3_Missense_Mutation_p.G689A|AR_ENST00000396043.2_Missense_Mutation_p.G157A	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	688	Interaction with KAT7.|Interaction with LPXN.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G499A(1)|p.G689A(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GTGTGTGCTGGACACGACAAC	0.527									Androgen Insensitivity Syndrome																																								2	Substitution - Missense(2)	cervix(2)	GRCh37	CM980107	AR	M							126.0	88.0	101.0					X																	66931424		2203	4300	6503	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2066G>C	X.37:g.66931424G>C	ENSP00000363822:p.Gly689Ala		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,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_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.G689A	ENST00000374690.3	37	c.2066	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	g	22.7	4.329385	0.81690	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396044;ENST00000396043	D;D;D	0.99778	-6.73;-2.4;-6.73	5.18	5.18	0.71444	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.99789	0.9911	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.96972	0.9709	10	0.87932	D	0	.	14.8589	0.70362	0.0:0.0:1.0:0.0	.	157;688	F1D8N5;P10275	.;ANDR_HUMAN	A	499;689;689;157	ENSP00000363822:G689A;ENSP00000379359:G689A;ENSP00000379358:G157A	ENSP00000363822:G689A	G	+	2	0	AR	66848149	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.654000	0.98509	2.388000	0.81334	0.591000	0.81541	GGA	AR	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.527	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	G	NM_000044		66931424	+1	no_errors	ENST00000374690	ensembl	human	known	70_37	missense	SNP	1.000	C
ARID2	196528	genome.wustl.edu	37	12	46211629	46211629	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:46211629A>G	ENST00000334344.6	+	5	767	c.595A>G	c.(595-597)Atc>Gtc	p.I199V	ARID2_ENST00000422737.1_Missense_Mutation_p.I50V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	199					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I199V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGATCCTAAAATCATCACTTT	0.348			"""N, S, F"""		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	1	Substitution - Missense(1)	cervix(1)											74.0	67.0	69.0					12																	46211629		2203	4300	6503	SO:0001583	missense	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.595A>G	12.37:g.46211629A>G	ENSP00000335044:p.Ile199Val		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.I199V	ENST00000334344.6	37	c.595	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	A	16.73	3.203395	0.58234	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T;T	0.48522	0.81;0.81	5.56	5.56	0.83823	.	0.061201	0.64402	D	0.000002	T	0.35624	0.0938	N	0.22421	0.69	0.80722	D	1	P	0.39480	0.675	B	0.35413	0.202	T	0.35325	-0.9793	10	0.72032	D	0.01	-6.1707	15.6948	0.77488	1.0:0.0:0.0:0.0	.	199	Q68CP9	ARID2_HUMAN	V	199;50	ENSP00000335044:I199V;ENSP00000415650:I50V	ENSP00000335044:I199V	I	+	1	0	ARID2	44497896	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.871000	0.75531	2.102000	0.63906	0.454000	0.30748	ATC	ARID2	-	NULL		0.348	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	A	XM_350875		46211629	+1	no_errors	ENST00000334344	ensembl	human	known	70_37	missense	SNP	1.000	G
ARID4A	5926	genome.wustl.edu	37	14	58831088	58831088	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:58831088G>C	ENST00000355431.3	+	20	2654	c.2281G>C	c.(2281-2283)Gaa>Caa	p.E761Q	ARID4A_ENST00000395168.3_Missense_Mutation_p.E761Q|ARID4A_ENST00000431317.2_Missense_Mutation_p.E761Q|ARID4A_ENST00000348476.3_Missense_Mutation_p.E761Q	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	761					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E761Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTGAAGTTAGAAGTTGGAGA	0.333																																																	2	Substitution - Missense(2)	cervix(2)											50.0	60.0	56.0					14																	58831088		2200	4297	6497	SO:0001583	missense	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2281G>C	14.37:g.58831088G>C	ENSP00000347602:p.Glu761Gln		Q15991|Q15992|Q15993	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.E761Q	ENST00000355431.3	37	c.2281	CCDS9732.1	14	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856010	0.51376	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.22134	2.26;2.24;2.21;2.24;1.97	5.8	5.8	0.92144	.	0.483892	0.24472	N	0.038235	T	0.21550	0.0519	L	0.32530	0.975	0.52099	D	0.999944	B;B;B	0.18310	0.027;0.001;0.001	B;B;B	0.16289	0.015;0.003;0.003	T	0.02214	-1.1194	10	0.54805	T	0.06	-10.7092	20.0432	0.97601	0.0:0.0:1.0:0.0	.	761;761;761	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	Q	761;761;761;761;439	ENSP00000347602:E761Q;ENSP00000344556:E761Q;ENSP00000378597:E761Q;ENSP00000397368:E761Q;ENSP00000416053:E439Q	ENSP00000344556:E761Q	E	+	1	0	ARID4A	57900841	1.000000	0.71417	0.906000	0.35671	0.903000	0.53119	5.065000	0.64344	2.740000	0.93945	0.650000	0.86243	GAA	ARID4A	-	NULL		0.333	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	G	NM_023001		58831088	+1	no_errors	ENST00000355431	ensembl	human	known	70_37	missense	SNP	0.998	C
ATAD5	79915	genome.wustl.edu	37	17	29171008	29171008	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr17:29171008G>C	ENST00000321990.4	+	5	2697	c.2319G>C	c.(2317-2319)ttG>ttC	p.L773F	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	773					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.L773F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTCAGTGTTTGAATGATGTGC	0.289																																																	1	Substitution - Missense(1)	cervix(1)											64.0	71.0	69.0					17																	29171008		2200	4290	6490	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.2319G>C	17.37:g.29171008G>C	ENSP00000313171:p.Leu773Phe		Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.L773F	ENST00000321990.4	37	c.2319	CCDS11260.1	17	.	.	.	.	.	.	.	.	.	.	G	9.973	1.226099	0.22542	.	.	ENSG00000176208	ENST00000321990	D	0.90197	-2.63	5.67	1.26	0.21427	.	0.421812	0.24091	N	0.041636	D	0.92734	0.7690	M	0.66939	2.045	0.39359	D	0.965886	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89161	0.3530	10	0.30078	T	0.28	.	8.8071	0.34945	0.4077:0.0:0.5923:0.0	.	773;773	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	F	773	ENSP00000313171:L773F	ENSP00000313171:L773F	L	+	3	2	ATAD5	26195134	1.000000	0.71417	0.997000	0.53966	0.907000	0.53573	1.295000	0.33377	0.023000	0.15187	-0.490000	0.04691	TTG	ATAD5	-	NULL		0.289	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2	G	NM_024857		29171008	+1	no_errors	ENST00000321990	ensembl	human	known	70_37	missense	SNP	1.000	C
ATXN1	6310	genome.wustl.edu	37	6	16326687	16326687	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr6:16326687C>T	ENST00000244769.4	-	8	2791	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	ATXN1_ENST00000436367.1_Missense_Mutation_p.E619K	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	619	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.|Interaction with USP7.|RNA-binding.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.E619K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGGCTGTCTTCAATCCTCTCT	0.552																																																	1	Substitution - Missense(1)	cervix(1)											83.0	84.0	84.0					6																	16326687		2203	4300	6503	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1855G>A	6.37:g.16326687C>T	ENSP00000244769:p.Glu619Lys		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.E619K	ENST00000244769.4	37	c.1855	CCDS34342.1	6	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736573	0.69304	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.79247	-1.25;-1.25	4.15	4.15	0.48705	Ataxin, AXH domain (1);Ataxin-1/HBP1 module (AXH) (3);	0.208958	0.48767	D	0.000162	T	0.64023	0.2561	L	0.47716	1.5	0.80722	D	1	B	0.26672	0.156	B	0.25405	0.06	T	0.69506	-0.5127	10	0.62326	D	0.03	-18.6006	16.9893	0.86349	0.0:1.0:0.0:0.0	.	619	P54253	ATX1_HUMAN	K	619	ENSP00000244769:E619K;ENSP00000416360:E619K	ENSP00000244769:E619K	E	-	1	0	ATXN1	16434666	1.000000	0.71417	0.999000	0.59377	0.857000	0.48899	7.171000	0.77595	2.307000	0.77673	0.561000	0.74099	GAA	ATXN1	-	pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1		0.552	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	HGNC	protein_coding	OTTHUMT00000039943.3	C	NM_000332		16326687	-1	no_errors	ENST00000244769	ensembl	human	known	70_37	missense	SNP	1.000	T
BEST3	144453	genome.wustl.edu	37	12	70070807	70070807	+	Silent	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:70070807C>G	ENST00000330891.5	-	7	982	c.756G>C	c.(754-756)ctG>ctC	p.L252L	BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Silent_p.L146L|BEST3_ENST00000331471.4_Silent_p.L252L|BEST3_ENST00000488961.1_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	252					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.L252L(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGCGTCCAATCAGGCACGCAA	0.512																																																	1	Substitution - coding silent(1)	cervix(1)											91.0	91.0	91.0					12																	70070807		2029	4190	6219	SO:0001819	synonymous_variant	144453			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.756G>C	12.37:g.70070807C>G			B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	pfam_Bestrophin/UPF0187	p.L252	ENST00000330891.5	37	c.756	CCDS8992.2	12																																																																																			BEST3	-	pfam_Bestrophin/UPF0187		0.512	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000313908.2	C	NM_152439		70070807	-1	no_errors	ENST00000330891	ensembl	human	known	70_37	silent	SNP	1.000	G
BIRC8	112401	genome.wustl.edu	37	19	53793351	53793351	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr19:53793351G>T	ENST00000426466.1	-	1	1524	c.277C>A	c.(277-279)Caa>Aaa	p.Q93K		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	93					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.Q93K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TTGGTAGTTTGTACCAGAGCT	0.373																																																	1	Substitution - Missense(1)	cervix(1)											209.0	200.0	203.0					19																	53793351		2203	4300	6503	SO:0001583	missense	112401			AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.277C>A	19.37:g.53793351G>T	ENSP00000412957:p.Gln93Lys		Q6IPY1|Q96RW5	Missense_Mutation	SNP	pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING	p.Q93K	ENST00000426466.1	37	c.277	CCDS12863.1	19	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.061154	0.00037	.	.	ENSG00000163098	ENST00000426466	T	0.35236	1.32	0.502	-1.0	0.10196	.	.	.	.	.	T	0.09113	0.0225	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15723	-1.0427	8	0.06365	T	0.9	-8.1366	.	.	.	.	93	Q96P09	BIRC8_HUMAN	K	93	ENSP00000412957:Q93K	ENSP00000412957:Q93K	Q	-	1	0	BIRC8	58485163	0.067000	0.21026	0.002000	0.10522	0.027000	0.11550	-1.475000	0.02335	-1.994000	0.00972	-1.109000	0.02080	CAA	BIRC8	-	NULL		0.373	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC8	HGNC	protein_coding	OTTHUMT00000464357.1	G	NM_033341		53793351	-1	no_errors	ENST00000426466	ensembl	human	known	70_37	missense	SNP	0.002	T
BPTF	2186	genome.wustl.edu	37	17	65941593	65941593	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr17:65941593C>T	ENST00000321892.4	+	23	7208	c.7147C>T	c.(7147-7149)Cca>Tca	p.P2383S	BPTF_ENST00000335221.5_Missense_Mutation_p.P2383S|BPTF_ENST00000424123.3_Missense_Mutation_p.P2244S|BPTF_ENST00000306378.6_Missense_Mutation_p.P2257S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2383					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P2257S(1)|p.P2383S(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACCCTGCCACCAGCTCAGTC	0.527																																																	2	Substitution - Missense(2)	cervix(2)											76.0	69.0	71.0					17																	65941593		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7147C>T	17.37:g.65941593C>T	ENSP00000315454:p.Pro2383Ser		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.P2383S	ENST00000321892.4	37	c.7147		17	.	.	.	.	.	.	.	.	.	.	C	0.846	-0.740163	0.03088	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.68181	-0.31;-0.24;-0.25	5.49	-0.203	0.13204	.	.	.	.	.	T	0.53270	0.1786	L	0.50333	1.59	0.33261	D	0.55972	B;B;B	0.24426	0.002;0.028;0.103	B;B;B	0.23419	0.002;0.02;0.046	T	0.52495	-0.8568	9	0.09843	T	0.71	-0.6122	9.3474	0.38118	0.0:0.4099:0.4613:0.1288	.	61;2257;2383	B4DJV8;Q12830-2;Q12830-4	.;.;.	S	2257;2383;2383	ENSP00000307208:P2257S;ENSP00000334351:P2383S;ENSP00000315454:P2383S	ENSP00000307208:P2257S	P	+	1	0	BPTF	63372055	0.057000	0.20700	0.980000	0.43619	0.013000	0.08279	0.317000	0.19487	0.019000	0.15079	-0.825000	0.03093	CCA	BPTF	-	NULL		0.527	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		C	NM_182641, NM_004459		65941593	+1	no_errors	ENST00000321892	ensembl	human	known	70_37	missense	SNP	0.998	T
BTBD9	114781	genome.wustl.edu	37	6	38562104	38562104	+	Splice_Site	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr6:38562104C>T	ENST00000481247.1	-	3	337		c.e3-1		BTBD9_ENST00000408958.1_5'Flank|BTBD9_ENST00000419706.2_Missense_Mutation_p.R3K|BTBD9_ENST00000403056.1_Splice_Site|BTBD9_ENST00000314100.6_Splice_Site	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9						adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						TAATAATGCTCTGCACATCAG	0.358																																																	0													48.0	48.0	48.0					6																	38562104		1922	4142	6064	SO:0001630	splice_region_variant	114781				CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.186-1G>A	6.37:g.38562104C>T			Q494V9|Q494W1|Q96M00	Splice_Site	SNP	-	e2-1	ENST00000481247.1	37	c.186-1	CCDS47418.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.51|18.51	3.639106|3.639106	0.67244|0.67244	.|.	.|.	ENSG00000183826|ENSG00000183826	ENST00000481247;ENST00000403056;ENST00000498633|ENST00000419706	.|T	.|0.22134	.|1.97	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.31263	.|0.0791	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00664	.|-1.1620	.|6	.|.	.|.	.|.	.|.	19.3029|19.3029	0.94150|0.94150	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|K	-1|3	.|ENSP00000415365:R3K	.|.	.|R	-|-	.|2	.|0	BTBD9|BTBD9	38670082|38670082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.873000|0.873000	0.50193|0.50193	7.620000|7.620000	0.83070|0.83070	2.644000|2.644000	0.89710|0.89710	0.563000|0.563000	0.77884|0.77884	.|AGA	BTBD9	-	-		0.358	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD9	HGNC	protein_coding	OTTHUMT00000040433.2	C	NM_152733	Intron	38562104	-1	no_errors	ENST00000403056	ensembl	human	known	70_37	splice_site	SNP	1.000	T
CCDC184	387856	genome.wustl.edu	37	12	48578079	48578079	+	Silent	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:48578079G>C	ENST00000316554.3	+	1	714	c.174G>C	c.(172-174)gtG>gtC	p.V58V		NM_001013635.3	NP_001013657.3	Q52MB2	CC184_HUMAN		58						cytoplasm (GO:0005737)		p.V58V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						TTGAGGACGTGAGGGCCATGA	0.642																																																	1	Substitution - coding silent(1)	cervix(1)											55.0	59.0	58.0					12																	48578079		2203	4300	6503	SO:0001819	synonymous_variant	387856																														ENST00000316554.3:c.174G>C	12.37:g.48578079G>C			Q96MK5|Q96N39	Silent	SNP	NULL	p.V58	ENST00000316554.3	37	c.174	CCDS31785.1	12																																																																																			C12orf68	-	NULL		0.642	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf68	HGNC	protein_coding	OTTHUMT00000406514.1	G			48578079	+1	no_errors	ENST00000316554	ensembl	human	known	70_37	silent	SNP	1.000	C
CABP1	9478	genome.wustl.edu	37	12	121098880	121098880	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:121098880A>G	ENST00000316803.3	+	5	1080	c.946A>G	c.(946-948)Acc>Gcc	p.T316A	CABP1_ENST00000288616.3_Missense_Mutation_p.T173A|CABP1_ENST00000453000.1_Missense_Mutation_p.T252A|CABP1_ENST00000351200.2_Missense_Mutation_p.T113A	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	316	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)	p.T173A(1)|p.T316A(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTAGTTTGACACCAATGGTGA	0.542																																																	2	Substitution - Missense(2)	cervix(2)											83.0	77.0	79.0					12																	121098880		2203	4300	6503	SO:0001583	missense	9478			AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.946A>G	12.37:g.121098880A>G	ENSP00000317310:p.Thr316Ala		O95663|Q8N6H5|Q9NZU8	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.T316A	ENST00000316803.3	37	c.946	CCDS31913.1	12	.	.	.	.	.	.	.	.	.	.	A	16.03	3.007868	0.54361	.	.	ENSG00000157782	ENST00000316803;ENST00000288616;ENST00000351200;ENST00000453000	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.37	5.37	0.77165	EF-hand-like domain (1);	0.053112	0.85682	D	0.000000	T	0.61515	0.2353	L	0.28740	0.885	0.80722	D	1	B;B;B;B	0.15473	0.013;0.0;0.002;0.005	B;B;B;B	0.14578	0.011;0.001;0.002;0.008	T	0.59616	-0.7421	10	0.62326	D	0.03	-22.8051	15.3845	0.74687	1.0:0.0:0.0:0.0	.	252;113;173;316	C9J8G2;Q9NZU7-2;Q9NZU7-1;Q9NZU7	.;.;.;CABP1_HUMAN	A	316;173;113;252	ENSP00000317310:T316A;ENSP00000288616:T173A;ENSP00000288615:T113A;ENSP00000398959:T252A	ENSP00000288616:T173A	T	+	1	0	CABP1	119583263	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.966000	0.76073	2.028000	0.59812	0.533000	0.62120	ACC	CABP1	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.542	CABP1-001	KNOWN	basic|CCDS	protein_coding	CABP1	HGNC	protein_coding	OTTHUMT00000345822.1	A	NM_001033677		121098880	+1	no_errors	ENST00000316803	ensembl	human	known	70_37	missense	SNP	1.000	G
CABS1	85438	genome.wustl.edu	37	4	71201722	71201722	+	Silent	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:71201722C>T	ENST00000273936.5	+	1	1040	c.966C>T	c.(964-966)gaC>gaT	p.D322D		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	322					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)	p.D322D(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCAGATATGACTTCGTTGTCC	0.408																																																	1	Substitution - coding silent(1)	cervix(1)											111.0	100.0	104.0					4																	71201722		2203	4300	6503	SO:0001819	synonymous_variant	85438			AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.966C>T	4.37:g.71201722C>T			B2RCB5|Q86UE0|Q96M17	Silent	SNP	NULL	p.D322	ENST00000273936.5	37	c.966	CCDS3539.1	4																																																																																			CABS1	-	NULL		0.408	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	CABS1	HGNC	protein_coding	OTTHUMT00000251561.3	C	NM_033122		71201722	+1	no_errors	ENST00000273936	ensembl	human	known	70_37	silent	SNP	0.954	T
CAPNS1	826	genome.wustl.edu	37	19	36640737	36640737	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr19:36640737C>T	ENST00000246533.3	+	11	1401	c.803C>T	c.(802-804)tCc>tTc	p.S268F	AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000590874.1_Missense_Mutation_p.S238F|CAPNS1_ENST00000588815.1_Missense_Mutation_p.S268F|CAPNS1_ENST00000589146.1_Missense_Mutation_p.S94F|CAPNS1_ENST00000588780.1_Missense_Mutation_p.S278F|CAPNS1_ENST00000587718.1_3'UTR	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	268	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.			WLQLTMYS -> VRTPILGYGCLGGPHPSALHTSSELQSPS SYFASRPWVRAKGLVLLGFPVLTLHPPLPSGCS (in Ref. 7; AAH11903). {ECO:0000305}.	extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.S268F(1)		cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACTATGTATTCCTGAACTGGA	0.622																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)												1	Substitution - Missense(1)	cervix(1)											94.0	84.0	87.0					19																	36640737		2203	4300	6503	SO:0001583	missense	826			X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.803C>T	19.37:g.36640737C>T	ENSP00000246533:p.Ser268Phe		A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.S278F	ENST00000246533.3	37	c.833	CCDS12489.1	19	.	.	.	.	.	.	.	.	.	.	c	27.5	4.833783	0.91036	.	.	ENSG00000126247	ENST00000246533	D	0.83506	-1.73	5.04	5.04	0.67666	EF-hand-like domain (1);	0.116753	0.64402	D	0.000012	D	0.89938	0.6860	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90772	0.4673	10	0.87932	D	0	.	15.9128	0.79485	0.0:1.0:0.0:0.0	.	268	P04632	CPNS1_HUMAN	F	268	ENSP00000246533:S268F	ENSP00000246533:S268F	S	+	2	0	CAPNS1	41332577	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.238000	0.65366	2.617000	0.88574	0.655000	0.94253	TCC	CAPNS1	-	pfscan_EF_HAND_2		0.622	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPNS1	HGNC	protein_coding	OTTHUMT00000457411.2	C			36640737	+1	no_errors	ENST00000588780	ensembl	human	known	70_37	missense	SNP	1.000	T
CD101	9398	genome.wustl.edu	37	1	117556245	117556246	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:117556245_117556246delAA	ENST00000256652.4	+	4	1117_1118	c.1059_1060delAA	c.(1057-1062)tcaaagfs	p.K354fs	CD101_ENST00000369470.1_Frame_Shift_Del_p.K354fs	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	354	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCCAGGTTTCAAAGTTAGGCCC	0.5																																																	0																																										SO:0001589	frameshift_variant	9398			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1059_1060delAA	1.37:g.117556245_117556246delAA	ENSP00000256652:p.Lys354fs		Q15856	Frame_Shift_Del	DEL	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.K354fs	ENST00000256652.4	37	c.1059_1060	CCDS891.1	1																																																																																			CD101	-	smart_Ig_V-set_subgr,smart_Ig_sub,pfscan_Ig-like		0.500	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CD101	HGNC	protein_coding	OTTHUMT00000033274.1	AA	NM_004258		117556246	+1	no_errors	ENST00000256652	ensembl	human	known	70_37	frame_shift_del	DEL	0.849:0.991	-
CDH13	1012	genome.wustl.edu	37	16	83636197	83636197	+	Missense_Mutation	SNP	G	G	C	rs200000145	byFrequency	TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr16:83636197G>C	ENST00000566620.1	+	8	1389	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	CDH13_ENST00000428848.3_Missense_Mutation_p.E328Q|CDH13_ENST00000268613.10_Missense_Mutation_p.E414Q	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	367	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		E -> Q (in a patient with amyotrophic lateral sclerosis). {ECO:0000269|PubMed:21220648}.		adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)	p.E367Q(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CACCAAGAAAGAGGTAAACCC	0.473													G|||	4	0.000798722	0.0	0.0043	5008	,	,		18912	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	cervix(1)						G	GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU	0,3914		0,0,1957	129.0	128.0	128.0		1240,982,337,1099	6.0	1.0	16		128	13,8323		0,13,4155	yes	missense,missense,missense,missense	CDH13	NM_001220488.1,NM_001220489.1,NM_001220490.1,NM_001257.4	29,29,29,29	0,13,6112	CC,CG,GG		0.156,0.0,0.1061	probably-damaging,probably-damaging,probably-damaging,probably-damaging	414/761,328/675,113/460,367/714	83636197	13,12237	1957	4168	6125	SO:0001583	missense	1012			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1099G>C	16.37:g.83636197G>C	ENSP00000454435:p.Glu367Gln		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E367Q	ENST00000566620.1	37	c.1099	CCDS58486.1	16	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411196	0.62399	0.0	0.00156	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000540531	T	0.61040	0.14	6.02	6.02	0.97574	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.54481	0.1861	L	0.45581	1.43	0.80722	D	1	B;B;B	0.30824	0.034;0.146;0.296	B;B;B	0.29942	0.053;0.085;0.109	T	0.49744	-0.8907	9	0.39692	T	0.17	.	19.1188	0.93353	0.0:0.0:1.0:0.0	.	328;414;367	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	Q	414;367;328;69;57	ENSP00000268613:E414Q	ENSP00000268613:E414Q	E	+	1	0	CDH13	82193698	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.779000	0.62375	2.865000	0.98341	0.655000	0.94253	GAG	CDH13	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.473	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH13	HGNC	protein_coding	OTTHUMT00000432917.1	G	NM_001257		83636197	+1	no_errors	ENST00000566620	ensembl	human	known	70_37	missense	SNP	1.000	C
CDHR1	92211	genome.wustl.edu	37	10	85965626	85965626	+	Silent	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr10:85965626C>T	ENST00000372117.3	+	10	1009	c.906C>T	c.(904-906)atC>atT	p.I302I	CDHR1_ENST00000332904.3_Silent_p.I302I|CDHR1_ENST00000440770.2_Silent_p.I61I	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	302	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.I302I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTGGAGCCATCTCCATCACTC	0.567											OREG0020333	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	cervix(1)											87.0	81.0	83.0					10																	85965626		2203	4300	6503	SO:0001819	synonymous_variant	92211			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.906C>T	10.37:g.85965626C>T		1240	Q69YZ8|Q8IXY5	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I302	ENST00000372117.3	37	c.906	CCDS7372.1	10																																																																																			CDHR1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.567	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1	C	NM_033100		85965626	+1	no_errors	ENST00000372117	ensembl	human	known	70_37	silent	SNP	0.760	T
CLTCL1	8218	genome.wustl.edu	37	22	19183791	19183791	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr22:19183791C>A	ENST00000263200.10	-	26	4249	c.4177G>T	c.(4177-4179)Gac>Tac	p.D1393Y	CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Missense_Mutation_p.D1393Y|CLTCL1_ENST00000427926.1_Missense_Mutation_p.D1393Y	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1393	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.D1393Y(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GTAATGATGTCCTTGAACTGA	0.562			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	1	Substitution - Missense(1)	cervix(1)											93.0	91.0	92.0					22																	19183791		2033	4208	6241	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4177G>T	22.37:g.19183791C>A	ENSP00000445677:p.Asp1393Tyr		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.D1393Y	ENST00000263200.10	37	c.4177	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979445	0.53827	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.22336	1.96;1.96;1.96	3.57	3.57	0.40892	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	M	0.90309	3.105	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.85130	0.989;0.997;0.994;0.994	T	0.67237	-0.5721	10	0.87932	D	0	-20.257	15.336	0.74255	0.0:1.0:0.0:0.0	.	1393;216;216;1393	P53675-2;B7Z1Z7;B7Z2Y4;P53675	.;.;.;CLH2_HUMAN	Y	1393	ENSP00000439662:D1393Y;ENSP00000445677:D1393Y;ENSP00000441158:D1393Y	ENSP00000445677:D1393Y	D	-	1	0	CLTCL1	17563791	1.000000	0.71417	0.978000	0.43139	0.327000	0.28475	6.944000	0.75940	1.829000	0.53265	0.491000	0.48974	GAC	CLTCL1	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain		0.562	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	C	NM_007098		19183791	-1	no_errors	ENST00000263200	ensembl	human	known	70_37	missense	SNP	1.000	A
COL24A1	255631	genome.wustl.edu	37	1	86342821	86342821	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:86342821C>G	ENST00000370571.2	-	33	3380	c.3014G>C	c.(3013-3015)gGa>gCa	p.G1005A	COL24A1_ENST00000436319.1_Missense_Mutation_p.G1005A	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1005	Collagen-like 8.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.G1005A(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCCCATTTCTCCAGGAGGTCC	0.303																																																	1	Substitution - Missense(1)	cervix(1)											37.0	35.0	36.0					1																	86342821		1804	4077	5881	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3014G>C	1.37:g.86342821C>G	ENSP00000359603:p.Gly1005Ala		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.G1005A	ENST00000370571.2	37	c.3014	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438564	0.43326	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.99607	-6.27;-5.5	5.37	5.37	0.77165	.	0.000000	0.39341	N	0.001391	D	0.99771	0.9906	H	0.96048	3.76	0.52501	D	0.999956	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97172	0.9845	10	0.87932	D	0	.	14.5962	0.68410	0.0:1.0:0.0:0.0	.	1005;1005	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	A	1005	ENSP00000359603:G1005A;ENSP00000392531:G1005A	ENSP00000359603:G1005A	G	-	2	0	COL24A1	86115409	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	4.042000	0.57347	2.515000	0.84797	0.467000	0.42956	GGA	COL24A1	-	NULL		0.303	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	C	NM_152890		86342821	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	missense	SNP	1.000	G
COL6A3	1293	genome.wustl.edu	37	2	238267881	238267881	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:238267881C>G	ENST00000295550.4	-	19	6774	c.6322G>C	c.(6322-6324)Gaa>Caa	p.E2108Q	COL6A3_ENST00000472056.1_Missense_Mutation_p.E1501Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1907Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.E1908Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.E1902Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.E1902Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2108	Collagen-like 2.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E2108Q(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGTCCAATTTCTCCTACTTCG	0.408																																																	1	Substitution - Missense(1)	cervix(1)											94.0	95.0	95.0					2																	238267881		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6322G>C	2.37:g.238267881C>G	ENSP00000295550:p.Glu2108Gln		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E2108Q	ENST00000295550.4	37	c.6322	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	9.596	1.127472	0.20959	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21;-3.21	5.14	5.14	0.70334	.	0.000000	0.49916	D	0.000127	D	0.95746	0.8616	L	0.60455	1.87	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.976	D	0.94393	0.7616	10	0.28530	T	0.3	.	18.626	0.91338	0.0:1.0:0.0:0.0	.	1501;1902;2108	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	Q	2108;1907;1902;1501;1902;1908	ENSP00000295550:E2108Q;ENSP00000315609:E1907Q;ENSP00000315873:E1902Q;ENSP00000418285:E1501Q;ENSP00000386844:E1902Q;ENSP00000295546:E1908Q	ENSP00000295550:E2108Q	E	-	1	0	COL6A3	237932620	1.000000	0.71417	0.569000	0.28460	0.055000	0.15305	7.060000	0.76692	2.398000	0.81561	0.655000	0.94253	GAA	COL6A3	-	NULL		0.408	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	C	NM_004369		238267881	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	missense	SNP	1.000	G
COL6A3	1293	genome.wustl.edu	37	2	238274445	238274445	+	Missense_Mutation	SNP	C	C	G	rs113251155		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:238274445C>G	ENST00000295550.4	-	12	6186	c.5734G>C	c.(5734-5736)Gag>Cag	p.E1912Q	COL6A3_ENST00000472056.1_Missense_Mutation_p.E1305Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1711Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.E1712Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.E1706Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.E1706Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1912	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E1912Q(1)|p.E1912K(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGGAACTTCTCGAGCATCTCT	0.632																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											81.0	76.0	77.0					2																	238274445		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5734G>C	2.37:g.238274445C>G	ENSP00000295550:p.Glu1912Gln		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E1912Q	ENST00000295550.4	37	c.5734	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962642	0.34659	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.34	5.34	0.76211	von Willebrand factor, type A (2);	0.404453	0.20607	N	0.089045	T	0.45458	0.1343	L	0.32530	0.975	0.44539	D	0.997492	D;D;D	0.89917	0.996;1.0;0.997	P;D;P	0.73708	0.868;0.981;0.806	T	0.09509	-1.0671	10	0.20519	T	0.43	.	12.7377	0.57234	0.0:0.9246:0.0:0.0754	.	1305;1706;1912	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	Q	1912;1711;1706;1305;1706;1712	ENSP00000295550:E1912Q;ENSP00000315609:E1711Q;ENSP00000315873:E1706Q;ENSP00000418285:E1305Q;ENSP00000386844:E1706Q;ENSP00000295546:E1712Q	ENSP00000295550:E1912Q	E	-	1	0	COL6A3	237939184	0.998000	0.40836	0.981000	0.43875	0.686000	0.39977	3.641000	0.54360	2.665000	0.90641	0.655000	0.94253	GAG	COL6A3	-	smart_VWF_A,pfscan_VWF_A		0.632	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	C	NM_004369		238274445	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	missense	SNP	0.997	G
CROCC	9696	genome.wustl.edu	37	1	17257074	17257074	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:17257074G>C	ENST00000375541.5	+	7	903	c.834G>C	c.(832-834)tgG>tgC	p.W278C	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.W278C(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGGCGGCGTGGAGGCGCGAGG	0.662																																																	1	Substitution - Missense(1)	cervix(1)											19.0	17.0	18.0					1																	17257074		2195	4281	6476	SO:0001583	missense	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.834G>C	1.37:g.17257074G>C	ENSP00000364691:p.Trp278Cys			Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.W278C	ENST00000375541.5	37	c.834	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777526	0.49786	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.22134	1.97	5.21	5.21	0.72293	.	.	.	.	.	T	0.48059	0.1479	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.44097	-0.9350	9	0.46703	T	0.11	.	17.3004	0.87181	0.0:0.0:1.0:0.0	.	141;278	A1L0S8;Q5TZA2	.;CROCC_HUMAN	C	278;159	ENSP00000364691:W278C	ENSP00000364691:W278C	W	+	3	0	CROCC	17129661	1.000000	0.71417	0.998000	0.56505	0.710000	0.40934	7.591000	0.82666	2.421000	0.82119	0.555000	0.69702	TGG	CROCC	-	NULL		0.662	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	G	NM_014675		17257074	+1	no_errors	ENST00000375541	ensembl	human	known	70_37	missense	SNP	1.000	C
DDHD1	80821	genome.wustl.edu	37	14	53558534	53558534	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:53558534C>G	ENST00000323669.5	-	4	1257	c.1258G>C	c.(1258-1260)Gac>Cac	p.D420H	DDHD1_ENST00000357758.3_Missense_Mutation_p.D420H|DDHD1_ENST00000395606.1_Missense_Mutation_p.D427H	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	420					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.D420H(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTCCTTGGTCCATTTTCTGC	0.363																																																	2	Substitution - Missense(2)	cervix(2)											172.0	163.0	166.0					14																	53558534		2203	4300	6503	SO:0001583	missense	80821			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1258G>C	14.37:g.53558534C>G	ENSP00000327104:p.Asp420His		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	pfam_DDHD,pfscan_DDHD	p.D420H	ENST00000323669.5	37	c.1258	CCDS53895.1	14	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659173	0.88154	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	T;T;T	0.52526	0.66;0.66;0.66	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.72510	0.3469	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	0.983;1.0;0.983	D;D;D	0.91635	0.92;0.999;0.92	T	0.75439	-0.3317	10	0.72032	D	0.01	-20.9578	19.563	0.95380	0.0:1.0:0.0:0.0	.	427;420;420	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	H	420;427;420;291	ENSP00000327104:D420H;ENSP00000378970:D427H;ENSP00000350401:D420H	ENSP00000327104:D420H	D	-	1	0	DDHD1	52628284	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.694000	0.84235	2.630000	0.89119	0.561000	0.74099	GAC	DDHD1	-	NULL		0.363	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	HGNC	protein_coding	OTTHUMT00000276901.1	C			53558534	-1	no_errors	ENST00000323669	ensembl	human	known	70_37	missense	SNP	1.000	G
DDX20	11218	genome.wustl.edu	37	1	112305496	112305496	+	Intron	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:112305496G>A	ENST00000369702.4	+	10	1830				DDX20_ENST00000475700.1_Start_Codon_SNP_p.M1I|DDX20_ENST00000536167.1_Intron	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20						ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGTGAAAATGATTTACTACC	0.383																																																	0													59.0	62.0	61.0					1																	112305496		2203	4300	6503	SO:0001627	intron_variant	11218			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1211-32G>A	1.37:g.112305496G>A			B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	NULL	p.M1I	ENST00000369702.4	37	c.3	CCDS842.1	1	.	.	.	.	.	.	.	.	.	.	G	2.936	-0.220070	0.06061	.	.	ENSG00000064703	ENST00000475700	T	0.20881	2.04	5.34	2.29	0.28610	.	.	.	.	.	T	0.03783	0.0107	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43861	-0.9365	7	.	.	.	.	7.3661	0.26774	0.1736:0.2032:0.6233:0.0	.	1	E9PJ60	.	I	1	ENSP00000435660:M1I	.	M	+	3	0	DDX20	112107019	0.003000	0.15002	0.005000	0.12908	0.014000	0.08584	1.187000	0.32090	0.747000	0.32809	0.655000	0.94253	ATG	DDX20	-	NULL		0.383	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX20	HGNC	protein_coding	OTTHUMT00000033063.2	G	NM_007204		112305496	+1	no_errors	ENST00000475700	ensembl	human	putative	70_37	missense	SNP	0.000	A
DENND2C	163259	genome.wustl.edu	37	1	115167965	115167965	+	Missense_Mutation	SNP	C	C	T	rs372971179		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:115167965C>T	ENST00000393274.1	-	4	1266	c.641G>A	c.(640-642)cGt>cAt	p.R214H	DENND2C_ENST00000481894.1_5'Flank|DENND2C_ENST00000393277.1_Missense_Mutation_p.R214H|DENND2C_ENST00000393276.3_Missense_Mutation_p.R214H	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	214					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R214H(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAATGTCCTACGAGGTTTTGG	0.378																																																	1	Substitution - Missense(1)	cervix(1)						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	97.0	97.0	97.0		641	5.0	1.0	1		97	0,8600		0,0,4300	no	missense	DENND2C	NM_198459.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	214/872	115167965	1,13005	2203	4300	6503	SO:0001583	missense	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.641G>A	1.37:g.115167965C>T	ENSP00000376955:p.Arg214His		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R214H	ENST00000393274.1	37	c.641	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419043	0.83559	2.27E-4	0.0	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.12361	3.15;3.36;2.69	5.0	5.0	0.66597	.	0.069099	0.64402	D	0.000014	T	0.30479	0.0766	M	0.72118	2.19	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.78314	0.971;0.991	T	0.09207	-1.0685	10	0.87932	D	0	.	18.2774	0.90087	0.0:1.0:0.0:0.0	.	214;214	Q68D51;Q68D51-3	DEN2C_HUMAN;.	H	214	ENSP00000376957:R214H;ENSP00000376955:R214H;ENSP00000376958:R214H	ENSP00000358553:R214H	R	-	2	0	DENND2C	114969488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.741000	0.55090	2.333000	0.79357	0.585000	0.79938	CGT	DENND2C	-	NULL		0.378	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	C	NM_198459		115167965	-1	no_errors	ENST00000393274	ensembl	human	known	70_37	missense	SNP	1.000	T
LILRP2	79166	genome.wustl.edu	37	19	55221457	55221457	+	RNA	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr19:55221457G>A	ENST00000413439.1	+	0	1237									leukocyte immunoglobulin-like receptor pseudogene 2																		TGTACAAGGAGGGGGGACATG	0.662																																					Ovarian(107;788 1543 20399 31552 46707)												0																																												0			AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221457G>A				RNA	SNP	-	NULL	ENST00000413439.1	37	NULL		19																																																																																			AC006293.3	-	-		0.662	LILRP2-002	KNOWN	basic	processed_transcript	ENSG00000170858	Clone_based_vega_gene	pseudogene	OTTHUMT00000141240.2	G	NM_024317		55221457	+1	no_errors	ENST00000413439	ensembl	human	known	70_37	rna	SNP	0.001	A
MT-ND1	4535	genome.wustl.edu	37	M	877	877	+	5'Flank	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chrM:877G>A	ENST00000361390.2	+	0	0				MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AACCCCAGGGTTGGTCAATTT	0.478																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886			M.37:g.877G>A	Exception_encountered		C0JKH6|Q37523	RNA	SNP	-	NULL	ENST00000361390.2	37	NULL		MT																																																																																			J01415.23	-	-		0.478	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000211459	Clone_based_ensembl_gene	protein_coding		G	YP_003024026		877	+1	no_errors	ENST00000389680	ensembl	human	known	70_37	rna	SNP	NULL	A
CWF19L1	55280	genome.wustl.edu	37	10	101993189	101993189	+	Intron	SNP	C	C	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr10:101993189C>A	ENST00000354105.4	-	14	1559				CWF19L1_ENST00000370379.1_Intron|CWF19L1_ENST00000478047.1_Intron|RP11-316M21.6_ENST00000444359.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)								catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TCCTCAACATCACCCAAAGGA	0.448																																																	0																																										SO:0001627	intron_variant	0			AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1473-61G>T	10.37:g.101993189C>A			B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	RNA	SNP	-	NULL	ENST00000354105.4	37	NULL	CCDS7489.1	10																																																																																			RP11-316M21.6	-	-		0.448	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000227492	Clone_based_vega_gene	protein_coding		C	NM_018294		101993189	+1	no_errors	ENST00000444359	ensembl	human	known	70_37	rna	SNP	0.134	A
AC073648.1	0	genome.wustl.edu	37	4	9025143	9025143	+	RNA	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:9025143C>G	ENST00000408553.2	-	0	63																											ccactactttcaatgacaaaa	0.408																																																	0																																												0																															4.37:g.9025143C>G				RNA	SNP	-	NULL	ENST00000408553.2	37	NULL		4																																																																																			AC073648.1	-	-		0.408	AC073648.1-201	NOVEL	basic	miRNA	ENSG00000238726	Clone_based_ensembl_gene	miRNA		C			9025143	-1	no_errors	ENST00000408553	ensembl	human	novel	70_37	rna	SNP	0.162	G
BBS1	582	genome.wustl.edu	37	11	66287093	66287093	+	Silent	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:66287093C>T	ENST00000318312.7	+	8	648	c.597C>T	c.(595-597)gtC>gtT	p.V199V	BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000393994.2_Silent_p.V199V|CTD-3074O7.11_ENST00000419755.3_Silent_p.V236V|BBS1_ENST00000537537.1_Silent_p.V87V|BBS1_ENST00000455748.2_Intron	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	199					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)	p.V199V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						TGTAGACAGTCATCACCACCA	0.567									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)												1	Substitution - coding silent(1)	cervix(1)											115.0	95.0	101.0					11																	66287093		2200	4295	6495	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.597C>T	11.37:g.66287093C>T			Q32MM9|Q32MN0|Q96SN4	Silent	SNP	superfamily_Quinonprotein_ADH-like	p.V236	ENST00000318312.7	37	c.708	CCDS8142.1	11																																																																																			BBS1	-	NULL		0.567	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256349	Uniprot_genename	protein_coding	OTTHUMT00000393235.2	C			66287093	+1	no_errors	ENST00000419755	ensembl	human	known	70_37	silent	SNP	1.000	T
EPHA8	2046	genome.wustl.edu	37	1	22912997	22912997	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:22912997C>T	ENST00000166244.3	+	4	920	c.848C>T	c.(847-849)tCa>tTa	p.S283L	EPHA8_ENST00000374644.4_Missense_Mutation_p.S283L|EPHA8_ENST00000538803.1_Missense_Mutation_p.S283L	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	283	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.S283L(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCTACAAGTCAGCCCCTGGG	0.672																																																	2	Substitution - Missense(2)	cervix(2)											47.0	47.0	47.0					1																	22912997		2203	4300	6503	SO:0001583	missense	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.848C>T	1.37:g.22912997C>T	ENSP00000166244:p.Ser283Leu		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S283L	ENST00000166244.3	37	c.848	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162096	0.57368	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;D;D	0.97455	1.61;-4.39;-4.39	4.35	4.35	0.52113	.	0.167473	0.41396	D	0.000894	D	0.95535	0.8549	M	0.66297	2.02	0.35977	D	0.835741	B;B	0.27229	0.172;0.03	B;B	0.18871	0.023;0.02	D	0.96994	0.9724	10	0.54805	T	0.06	.	15.6037	0.76646	0.0:1.0:0.0:0.0	.	283;283	P29322;P29322-2	EPHA8_HUMAN;.	L	283	ENSP00000166244:S283L;ENSP00000363775:S283L;ENSP00000440274:S283L	ENSP00000166244:S283L	S	+	2	0	EPHA8	22785584	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.712000	0.68407	2.265000	0.75225	0.455000	0.32223	TCA	EPHA8	-	superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_ephrin_rcpt		0.672	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1	C	NM_020526		22912997	+1	no_errors	ENST00000166244	ensembl	human	known	70_37	missense	SNP	1.000	T
EQTN	54586	genome.wustl.edu	37	9	27296981	27296981	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr9:27296981C>T	ENST00000380032.3	-	1	156	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	EQTN_ENST00000380031.1_Missense_Mutation_p.E25K|EQTN_ENST00000484994.1_5'Flank|EQTN_ENST00000537675.1_Missense_Mutation_p.E25K	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	25					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)		p.E25K(1)									CTCTCACCTTCAATAGTAGGC	0.303																																																	1	Substitution - Missense(1)	cervix(1)											26.0	27.0	27.0					9																	27296981		2193	4293	6486	SO:0001583	missense	54586			AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"""Acr formation associated factor"", ""Acrosome formation associated factor"", ""sperm acrosome associated 8"""		"""chromosome 9 open reading frame 11"", ""equatorin"""	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.73G>A	9.37:g.27296981C>T	ENSP00000369371:p.Glu25Lys		B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Missense_Mutation	SNP	NULL	p.E25K	ENST00000380032.3	37	c.73	CCDS35001.1	9	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745549	0.49151	.	.	ENSG00000120160	ENST00000537675;ENST00000380032;ENST00000380031	T;T;T	0.40476	1.04;1.51;1.03	4.46	2.61	0.31194	.	1.032040	0.07712	N	0.942212	T	0.30324	0.0761	L	0.34521	1.04	0.09310	N	1	B;B;B	0.32031	0.1;0.352;0.1	B;B;B	0.29176	0.046;0.099;0.046	T	0.25537	-1.0129	10	0.46703	T	0.11	.	5.4868	0.16753	0.1973:0.7025:0.0:0.1002	.	25;25;25	B7ZMK1;Q9NQ60-2;Q9NQ60	.;.;AFAF_HUMAN	K	25	ENSP00000441630:E25K;ENSP00000369371:E25K;ENSP00000369370:E25K	ENSP00000369370:E25K	E	-	1	0	C9orf11	27286981	0.002000	0.14202	0.046000	0.18839	0.013000	0.08279	0.241000	0.18065	0.812000	0.34326	-0.182000	0.12963	GAA	EQTN	-	NULL		0.303	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EQTN	HGNC	protein_coding	OTTHUMT00000055499.1	C	NM_020641		27296981	-1	no_errors	ENST00000380032	ensembl	human	known	70_37	missense	SNP	0.058	T
F8	2157	genome.wustl.edu	37	X	154066005	154066005	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chrX:154066005G>T	ENST00000360256.4	-	26	7123	c.6923C>A	c.(6922-6924)tCc>tAc	p.S2308Y	F8_ENST00000330287.6_Missense_Mutation_p.S173Y	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2308	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.S2308Y(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGGTGTGAAGGAGTCTTGATT	0.483																																																	2	Substitution - Missense(2)	cervix(2)											70.0	62.0	65.0					X																	154066005		2203	4300	6503	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6923C>A	X.37:g.154066005G>T	ENSP00000353393:p.Ser2308Tyr		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.S2308Y	ENST00000360256.4	37	c.6923	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	g	10.30	1.311796	0.23821	.	.	ENSG00000185010	ENST00000330287;ENST00000360256	D;D	0.98207	-4.79;-4.79	4.74	3.77	0.43336	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.856597	0.10553	N	0.661229	D	0.96639	0.8903	L	0.29908	0.895	0.37409	D	0.913141	D;B	0.54772	0.968;0.077	P;B	0.52424	0.698;0.119	D	0.95038	0.8175	10	0.54805	T	0.06	-7.4409	7.633	0.28251	0.0:0.0:0.6628:0.3371	.	2308;173	P00451;Q14286	FA8_HUMAN;.	Y	173;2308	ENSP00000327895:S173Y;ENSP00000353393:S2308Y	ENSP00000327895:S173Y	S	-	2	0	F8	153719199	0.950000	0.32346	1.000000	0.80357	0.997000	0.91878	2.730000	0.47335	1.932000	0.55993	0.526000	0.51066	TCC	F8	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.483	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	G			154066005	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	missense	SNP	0.980	T
FAM209B	388799	genome.wustl.edu	37	20	55111233	55111233	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr20:55111233G>C	ENST00000371325.1	+	2	351	c.255G>C	c.(253-255)caG>caC	p.Q85H		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	85						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.Q85H(1)									GACAGGAGCAGAGTCCTCCTG	0.398																																																	1	Substitution - Missense(1)	cervix(1)											86.0	87.0	87.0					20																	55111233		2203	4300	6503	SO:0001583	missense	388799			AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 107"""	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	ENST00000371325.1:c.255G>C	20.37:g.55111233G>C	ENSP00000360376:p.Gln85His		Q3KRB5	Missense_Mutation	SNP	NULL	p.Q85H	ENST00000371325.1	37	c.255	CCDS33494.1	20	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151606	0.38021	.	.	ENSG00000213714	ENST00000371325	T	0.12361	2.69	3.27	2.3	0.28687	.	0.980746	0.08266	U	0.972188	T	0.24851	0.0603	L	0.61218	1.895	0.19300	N	0.999973	D	0.60160	0.987	P	0.55391	0.775	T	0.15867	-1.0422	10	0.62326	D	0.03	-10.6694	5.6386	0.17550	0.1504:0.0:0.8496:0.0	.	85	Q5JX69	CT107_HUMAN	H	85	ENSP00000360376:Q85H	ENSP00000360376:Q85H	Q	+	3	2	C20orf107	54544640	0.684000	0.27642	0.478000	0.27316	0.769000	0.43574	0.546000	0.23284	1.829000	0.53265	0.491000	0.48974	CAG	FAM209B	-	NULL		0.398	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM209B	HGNC	protein_coding	OTTHUMT00000079816.1	G			55111233	+1	no_errors	ENST00000371325	ensembl	human	known	70_37	missense	SNP	0.259	C
FAT4	79633	genome.wustl.edu	37	4	126371183	126371183	+	Missense_Mutation	SNP	A	A	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:126371183A>T	ENST00000394329.3	+	9	9025	c.9012A>T	c.(9010-9012)agA>agT	p.R3004S	FAT4_ENST00000335110.5_Missense_Mutation_p.R1302S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3004	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R3004S(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTTAATCAGAGTTACAGCAA	0.313																																																	2	Substitution - Missense(2)	cervix(2)											60.0	63.0	62.0					4																	126371183		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9012A>T	4.37:g.126371183A>T	ENSP00000377862:p.Arg3004Ser		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R3004S	ENST00000394329.3	37	c.9012	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	A	6.577	0.474787	0.12521	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01665	4.7;4.7	5.81	2.17	0.27698	Cadherin (3);Cadherin-like (1);	0.000000	0.36482	U	0.002566	T	0.01454	0.0047	L	0.27944	0.81	0.20563	N	0.999882	B;B;B	0.28584	0.034;0.216;0.18	B;B;B	0.30105	0.036;0.111;0.068	T	0.50004	-0.8878	10	0.16896	T	0.51	.	8.1616	0.31202	0.711:0.0:0.289:0.0	.	1302;3004;3004	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	S	3004;1302	ENSP00000377862:R3004S;ENSP00000335169:R1302S	ENSP00000335169:R1302S	R	+	3	2	FAT4	126590633	1.000000	0.71417	0.834000	0.33040	0.008000	0.06430	1.693000	0.37742	0.479000	0.27511	0.533000	0.62120	AGA	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.313	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	A	NM_024582		126371183	+1	no_errors	ENST00000394329	ensembl	human	known	70_37	missense	SNP	1.000	T
FMN2	56776	genome.wustl.edu	37	1	240256018	240256018	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:240256018C>G	ENST00000319653.9	+	1	839	c.609C>G	c.(607-609)atC>atG	p.I203M		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	203	Gln-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.I346M(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCAGGCGATCCGCCTgcagc	0.627																																																	1	Substitution - Missense(1)	cervix(1)											41.0	41.0	41.0					1																	240256018		2203	4300	6503	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.609C>G	1.37:g.240256018C>G	ENSP00000318884:p.Ile203Met		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.I203M	ENST00000319653.9	37	c.609	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	8.701	0.909666	0.17833	.	.	ENSG00000155816	ENST00000319653	T	0.38887	1.11	3.53	-4.75	0.03239	.	0.000000	0.64402	D	0.000012	T	0.47838	0.1467	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	T	0.51772	-0.8663	10	0.87932	D	0	.	5.8716	0.18807	0.1251:0.3819:0.0:0.493	.	203	Q9NZ56	FMN2_HUMAN	M	203	ENSP00000318884:I203M	ENSP00000318884:I203M	I	+	3	3	FMN2	238322641	0.617000	0.27043	0.895000	0.35142	0.926000	0.56050	-0.306000	0.08178	-0.940000	0.03705	0.306000	0.20318	ATC	FMN2	-	NULL		0.627	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	C	XM_371352		240256018	+1	no_errors	ENST00000319653	ensembl	human	known	70_37	missense	SNP	0.864	G
FNDC3B	64778	genome.wustl.edu	37	3	172058910	172058910	+	Silent	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr3:172058910G>A	ENST00000336824.4	+	17	1959	c.1860G>A	c.(1858-1860)caG>caA	p.Q620Q	FNDC3B_ENST00000415807.2_Silent_p.Q620Q|FNDC3B_ENST00000416957.1_Silent_p.Q620Q	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	620	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.Q620Q(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CAGCGAATCAGTGGGAAGTGG	0.453																																																	1	Substitution - coding silent(1)	cervix(1)											161.0	143.0	149.0					3																	172058910		2203	4300	6503	SO:0001819	synonymous_variant	64778			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1860G>A	3.37:g.172058910G>A			B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q620	ENST00000336824.4	37	c.1860	CCDS3217.1	3																																																																																			FNDC3B	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.453	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	G	NM_022763		172058910	+1	no_errors	ENST00000336824	ensembl	human	known	70_37	silent	SNP	1.000	A
FRAS1	80144	genome.wustl.edu	37	4	79440596	79440596	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:79440596G>C	ENST00000264895.6	+	67	10941	c.10501G>C	c.(10501-10503)Gag>Cag	p.E3501Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3497					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.E3501Q(1)|p.E3502Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACCGAGATGGAGTTTTCTTT	0.498																																																	2	Substitution - Missense(2)	cervix(2)											200.0	199.0	199.0					4																	79440596		1927	4136	6063	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10501G>C	4.37:g.79440596G>C	ENSP00000264895:p.Glu3501Gln		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.E3501Q	ENST00000264895.6	37	c.10501	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.00|16.00	2.999847|2.999847	0.54147|0.54147	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.13901|.	2.55|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68522|0.68522	0.3010|0.3010	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	T|T	0.63708|0.63708	-0.6576|-0.6576	10|5	0.46703|.	T|.	0.11|.	.|.	19.5023|19.5023	0.95100|0.95100	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3501|.	E9PHH6|.	.|.	Q|A	3501|1729	ENSP00000264895:E3501Q|.	ENSP00000264895:E3501Q|.	E|G	+|+	1|2	0|0	FRAS1|FRAS1	79659620|79659620	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.031000|0.031000	0.12232|0.12232	9.334000|9.334000	0.96470|0.96470	2.605000|2.605000	0.88082|0.88082	0.591000|0.591000	0.81541|0.81541	GAG|GGA	FRAS1	-	NULL		0.498	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		G			79440596	+1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	1.000	C
FYB	2533	genome.wustl.edu	37	5	39126186	39126186	+	Intron	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:39126186C>G	ENST00000351578.6	-	11	2098				FYB_ENST00000512982.1_Missense_Mutation_p.L653F|FYB_ENST00000505428.1_Missense_Mutation_p.L653F|FYB_ENST00000540520.1_Missense_Mutation_p.L663F|FYB_ENST00000515010.1_Intron	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein						immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.L653F(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTAACATCTTCAAAATCCCCC	0.413																																																	1	Substitution - Missense(1)	cervix(1)											137.0	123.0	128.0					5																	39126186		1889	4122	6011	SO:0001627	intron_variant	2533			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1907+1656G>C	5.37:g.39126186C>G			A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.L663F	ENST00000351578.6	37	c.1989	CCDS47200.1	5	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993063	0.74703	.	.	ENSG00000082074	ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T	0.49139	0.79;0.79;0.82	6.07	6.07	0.98685	.	0.085767	0.46442	D	0.000286	T	0.61627	0.2362	M	0.67953	2.075	0.47065	D	0.999308	D	0.69078	0.997	P	0.57720	0.826	T	0.61549	-0.7040	10	0.52906	T	0.07	-4.6085	13.8	0.63194	0.0:0.9304:0.0:0.0696	.	663	B4DLN2	.	F	653;653;663;653	ENSP00000425845:L653F;ENSP00000427114:L653F;ENSP00000442840:L663F	ENSP00000427114:L653F	L	-	3	2	FYB	39161943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.546000	0.53656	2.890000	0.99128	0.585000	0.79938	TTG	FYB	-	NULL		0.413	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FYB	HGNC	protein_coding	OTTHUMT00000367098.1	C	NM_001465		39126186	-1	no_errors	ENST00000540520	ensembl	human	known	70_37	missense	SNP	1.000	G
GABRB3	2562	genome.wustl.edu	37	15	26866676	26866676	+	Silent	SNP	A	A	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr15:26866676A>G	ENST00000311550.5	-	4	357	c.246T>C	c.(244-246)taT>taC	p.Y82Y	GABRB3_ENST00000541819.2_Silent_p.Y138Y|GABRB3_ENST00000400188.3_Silent_p.Y11Y|GABRB3_ENST00000545868.1_5'UTR|GABRB3_ENST00000299267.4_Silent_p.Y82Y	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	82					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.Y82Y(2)|p.Y138Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGGTTAAGGTATAATCCTGGG	0.453																																																	3	Substitution - coding silent(3)	cervix(3)											57.0	59.0	58.0					15																	26866676		2203	4300	6503	SO:0001819	synonymous_variant	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.246T>C	15.37:g.26866676A>G			B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.Y82	ENST00000311550.5	37	c.246	CCDS10019.1	15																																																																																			GABRB3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.453	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	A			26866676	-1	no_errors	ENST00000299267	ensembl	human	known	70_37	silent	SNP	1.000	G
GALNT10	55568	genome.wustl.edu	37	5	153755919	153755919	+	Silent	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:153755919G>A	ENST00000297107.6	+	5	788	c.651G>A	c.(649-651)ctG>ctA	p.L217L	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Silent_p.L217L|GALNT10_ENST00000519544.1_3'UTR	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	217	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L217L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGGAAGGGCTGATAAGGACCC	0.522																																																	1	Substitution - coding silent(1)	cervix(1)											96.0	95.0	96.0					5																	153755919		2203	4300	6503	SO:0001819	synonymous_variant	55568			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.651G>A	5.37:g.153755919G>A			B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L217	ENST00000297107.6	37	c.651	CCDS4325.1	5																																																																																			GALNT10	-	pfam_Glyco_trans_2		0.522	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT10	HGNC	protein_coding	OTTHUMT00000252453.1	G	NM_198321		153755919	+1	no_errors	ENST00000297107	ensembl	human	known	70_37	silent	SNP	0.988	A
GCDH	2639	genome.wustl.edu	37	19	13008605	13008605	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr19:13008605G>A	ENST00000222214.5	+	11	1382	c.1171G>A	c.(1171-1173)Ggg>Agg	p.G391R	GCDH_ENST00000591470.1_Missense_Mutation_p.G391R|GCDH_ENST00000422947.2_Missense_Mutation_p.G347R|GCDH_ENST00000457854.1_Missense_Mutation_p.G391R			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	391					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)	p.G391R(2)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	CATGCTGGGGGGGAATGGGAT	0.602																																					GBM(123;875 1636 7726 16444 26754)												2	Substitution - Missense(2)	cervix(2)											64.0	70.0	68.0					19																	13008605		2203	4300	6503	SO:0001583	missense	2639			AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.1171G>A	19.37:g.13008605G>A	ENSP00000222214:p.Gly391Arg		A8K2Z2|O14719	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.G391R	ENST00000222214.5	37	c.1171	CCDS12286.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.251935	0.95336	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000422947	D;D;D	0.98585	-5.01;-5.01;-5.01	5.6	5.6	0.85130	Acyl-CoA dehydrogenase, conserved site (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99566	0.9844	H	0.99887	4.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.998	D	0.97464	1.0036	10	0.87932	D	0	.	17.0969	0.86637	0.0:0.0:1.0:0.0	.	347;227;391;391	B4DK85;B4DUY0;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	R	391;391;347	ENSP00000394872:G391R;ENSP00000222214:G391R;ENSP00000394821:G347R	ENSP00000222214:G391R	G	+	1	0	GCDH	12869605	1.000000	0.71417	0.905000	0.35620	0.911000	0.54048	9.459000	0.97638	2.644000	0.89710	0.655000	0.94253	GGG	GCDH	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.602	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCDH	HGNC	protein_coding	OTTHUMT00000451897.1	G			13008605	+1	no_errors	ENST00000222214	ensembl	human	known	70_37	missense	SNP	1.000	A
GCNT3	9245	genome.wustl.edu	37	15	59911513	59911513	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr15:59911513C>G	ENST00000396065.1	+	3	1524	c.1076C>G	c.(1075-1077)tCt>tGt	p.S359C	GCNT3_ENST00000560585.1_Missense_Mutation_p.S359C	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	359					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.S359C(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GACATGACTTCTATTGCCAGG	0.562																																																	1	Substitution - Missense(1)	cervix(1)											133.0	118.0	123.0					15																	59911513		2190	4290	6480	SO:0001583	missense	9245			AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.1076C>G	15.37:g.59911513C>G	ENSP00000379377:p.Ser359Cys			Missense_Mutation	SNP	pfam_Glyco_trans_14	p.S359C	ENST00000396065.1	37	c.1076	CCDS10172.1	15	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343417	0.82022	.	.	ENSG00000140297	ENST00000396065	T	0.12255	2.7	5.38	5.38	0.77491	.	0.107337	0.64402	D	0.000006	T	0.22666	0.0547	L	0.34521	1.04	0.39606	D	0.969812	P	0.42941	0.794	P	0.52267	0.694	T	0.00967	-1.1497	10	0.39692	T	0.17	.	19.1515	0.93491	0.0:1.0:0.0:0.0	.	359	O95395	GCNT3_HUMAN	C	359	ENSP00000379377:S359C	ENSP00000379377:S359C	S	+	2	0	GCNT3	57698805	0.736000	0.28164	0.945000	0.38365	0.983000	0.72400	6.042000	0.70996	2.514000	0.84764	0.655000	0.94253	TCT	GCNT3	-	pfam_Glyco_trans_14		0.562	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT3	HGNC	protein_coding	OTTHUMT00000256068.1	C	NM_004751		59911513	+1	no_errors	ENST00000396065	ensembl	human	known	70_37	missense	SNP	1.000	G
GLDC	2731	genome.wustl.edu	37	9	6534789	6534789	+	Splice_Site	SNP	C	C	G	rs386833569		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr9:6534789C>G	ENST00000321612.6	-	24	2989		c.e24-1			NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)						glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)	p.?(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	GTGGAGACATCTGAGACAGAG	0.547																																																	1	Unknown(1)	cervix(1)	GRCh37	CS061291	GLDC	S							102.0	77.0	85.0					9																	6534789		2203	4300	6503	SO:0001630	splice_region_variant	2731			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2839-1G>C	9.37:g.6534789C>G			Q2M2F8	Splice_Site	SNP	-	e24-1	ENST00000321612.6	37	c.2839-1	CCDS34987.1	9	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099862	0.76983	.	.	ENSG00000178445	ENST00000321612	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7782	0.96405	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLDC	6524789	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.097000	0.76967	2.667000	0.90743	0.561000	0.74099	.	GLDC	-	-		0.547	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDC	HGNC	protein_coding	OTTHUMT00000051674.2	C	NM_000170	Intron	6534789	-1	no_errors	ENST00000321612	ensembl	human	known	70_37	splice_site	SNP	1.000	G
GLG1	2734	genome.wustl.edu	37	16	74516967	74516967	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr16:74516967C>G	ENST00000422840.2	-	10	1626	c.1627G>C	c.(1627-1629)Gaa>Caa	p.E543Q	GLG1_ENST00000447066.2_Missense_Mutation_p.E532Q|GLG1_ENST00000205061.5_Missense_Mutation_p.E543Q	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	543					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.E543Q(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						AGACGGTGTTCACAGTCTTCT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											140.0	133.0	135.0					16																	74516967		2198	4300	6498	SO:0001583	missense	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1627G>C	16.37:g.74516967C>G	ENSP00000405984:p.Glu543Gln		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	pfam_Cys-rich_GLG1_repeat	p.E543Q	ENST00000422840.2	37	c.1627	CCDS45527.1	16	.	.	.	.	.	.	.	.	.	.	C	31	5.072335	0.93950	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.62723	1.935	0.80722	D	1	P;D;D	0.67145	0.767;0.996;0.979	B;D;D	0.66602	0.406;0.945;0.909	T	0.73151	-0.4073	9	0.38643	T	0.18	-6.9227	20.5666	0.99351	0.0:1.0:0.0:0.0	.	543;543;532	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	Q	543;532;543	.	ENSP00000205061:E543Q	E	-	1	0	GLG1	73074468	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.731000	0.84895	2.854000	0.98071	0.655000	0.94253	GAA	GLG1	-	pfam_Cys-rich_GLG1_repeat		0.413	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	C	NM_012201		74516967	-1	no_errors	ENST00000205061	ensembl	human	known	70_37	missense	SNP	1.000	G
GLG1	2734	genome.wustl.edu	37	16	74517022	74517022	+	Splice_Site	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr16:74517022C>T	ENST00000422840.2	-	10	1571	c.1572G>A	c.(1570-1572)atG>atA	p.M524I	GLG1_ENST00000447066.2_Splice_Site_p.M513I|GLG1_ENST00000205061.5_Splice_Site_p.M524I	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	524					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.M524I(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACGACAAGATCCTAGCCATTA	0.403																																																	1	Substitution - Missense(1)	cervix(1)											91.0	91.0	91.0					16																	74517022		2198	4300	6498	SO:0001630	splice_region_variant	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1572-1G>A	16.37:g.74517022C>T			B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	pfam_Cys-rich_GLG1_repeat	p.M524I	ENST00000422840.2	37	c.1572	CCDS45527.1	16	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436407	0.62955	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.78	5.78	0.91487	.	0.039798	0.85682	N	0.000000	T	0.73575	0.3604	L	0.47716	1.5	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.963	D;P;P	0.63033	0.91;0.717;0.67	T	0.71586	-0.4548	9	0.45353	T	0.12	.	20.0079	0.97439	0.0:1.0:0.0:0.0	.	524;524;513	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	I	524;513;524	.	ENSP00000205061:M524I	M	-	3	0	GLG1	73074523	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	7.731000	0.84895	2.722000	0.93159	0.655000	0.94253	ATG	GLG1	-	pfam_Cys-rich_GLG1_repeat		0.403	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	C	NM_012201	Missense_Mutation	74517022	-1	no_errors	ENST00000205061	ensembl	human	known	70_37	missense	SNP	1.000	T
GPR19	2842	genome.wustl.edu	37	12	12815011	12815011	+	Silent	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:12815011G>C	ENST00000540510.1	-	2	564	c.372C>G	c.(370-372)ctC>ctG	p.L124L	GPR19_ENST00000332427.2_Silent_p.L124L			P46093	GPR4_HUMAN	G protein-coupled receptor 19	76					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L124L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		TGGTGAACTGGAGCAGGACGA	0.517																																																	1	Substitution - coding silent(1)	cervix(1)											121.0	98.0	106.0					12																	12815011		2203	4300	6503	SO:0001819	synonymous_variant	2842				CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.372C>G	12.37:g.12815011G>C			A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L124	ENST00000540510.1	37	c.372	CCDS8652.1	12																																																																																			GPR19	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.517	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR19	HGNC	protein_coding	OTTHUMT00000400662.1	G	NM_006143		12815011	-1	no_errors	ENST00000332427	ensembl	human	known	70_37	silent	SNP	0.945	C
GRIA1	2890	genome.wustl.edu	37	5	153056683	153056683	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:153056683T>C	ENST00000285900.5	+	7	1334	c.991T>C	c.(991-993)Tgg>Cgg	p.W331R	GRIA1_ENST00000518142.1_Missense_Mutation_p.W251R|GRIA1_ENST00000521843.2_Missense_Mutation_p.W262R|GRIA1_ENST00000518783.1_Missense_Mutation_p.W341R|GRIA1_ENST00000340592.5_Missense_Mutation_p.W331R|GRIA1_ENST00000448073.4_Missense_Mutation_p.W341R	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	331					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AGCTGTTCCCTGGGGCCAAGG	0.547																																																	0													53.0	51.0	51.0					5																	153056683		2203	4300	6503	SO:0001583	missense	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.991T>C	5.37:g.153056683T>C	ENSP00000285900:p.Trp331Arg		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.W341R	ENST00000285900.5	37	c.1021	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	T	23.2	4.387375	0.82902	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.56	5.56	0.83823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92090	0.7493	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.996;0.996;0.998;0.996;0.993;0.998	D	0.93056	0.6470	10	0.87932	D	0	.	14.8806	0.70531	0.0:0.0:0.0:1.0	.	341;341;251;341;331;331	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	R	331;331;251;285;331;262;262;341;341	ENSP00000285900:W331R;ENSP00000427920:W251R;ENSP00000339343:W331R;ENSP00000427864:W262R;ENSP00000442108:W262R;ENSP00000428994:W341R;ENSP00000415569:W341R	ENSP00000285900:W331R	W	+	1	0	GRIA1	153036876	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.753000	0.85153	2.097000	0.63578	0.533000	0.62120	TGG	GRIA1	-	pfam_ANF_lig-bd_rcpt		0.547	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	T			153056683	+1	no_errors	ENST00000448073	ensembl	human	known	70_37	missense	SNP	1.000	C
H1F0	3005	genome.wustl.edu	37	22	38201771	38201771	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr22:38201771C>T	ENST00000340857.2	+	1	658	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	GCAT_ENST00000323205.6_5'Flank|GCAT_ENST00000248924.6_5'Flank	NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	74	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|nucleosome assembly (GO:0006334)	actin cytoskeleton (GO:0015629)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.R74C(1)		cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					GTCCATCAAGCGCCTGGTCAC	0.592																																					NSCLC(191;1872 2984 30230 41544)|Esophageal Squamous(4;11 371 39444 52196)												1	Substitution - Missense(1)	cervix(1)											86.0	95.0	92.0					22																	38201771		2203	4300	6503	SO:0001583	missense	3005			X03473	CCDS13956.1	22q13.1	2011-01-27			ENSG00000189060	ENSG00000189060		"""Histones / Replication-independent"""	4714	protein-coding gene	gene with protein product	"""H1.0, H1(0), H1-0"""	142708		H1FV		3084796	Standard	NM_005318		Approved	H10	uc003aty.3	P07305	OTTHUMG00000150659	ENST00000340857.2:c.220C>T	22.37:g.38201771C>T	ENSP00000344504:p.Arg74Cys		B2R6I0|B4DRD6|Q6FG88|Q8N6R3	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.R74C	ENST00000340857.2	37	c.220	CCDS13956.1	22	.	.	.	.	.	.	.	.	.	.	c	19.21	3.784268	0.70222	.	.	ENSG00000189060	ENST00000340857;ENST00000455466	T	0.24908	1.83	4.99	3.87	0.44632	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55417	0.1919	M	0.88979	2.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.64232	-0.6456	10	0.87932	D	0	.	13.0861	0.59142	0.2797:0.7203:0.0:0.0	.	74	P07305	H10_HUMAN	C	74;57	ENSP00000344504:R74C	ENSP00000344504:R74C	R	+	1	0	H1F0	36531717	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.091000	0.41691	2.490000	0.84030	0.650000	0.86243	CGC	H1F0	-	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5		0.592	H1F0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H1F0	HGNC	protein_coding	OTTHUMT00000319453.1	C	NM_005318		38201771	+1	no_errors	ENST00000340857	ensembl	human	known	70_37	missense	SNP	1.000	T
MROH2B	133558	genome.wustl.edu	37	5	41039655	41039655	+	Silent	SNP	T	T	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:41039655T>C	ENST00000399564.4	-	20	2406	c.1956A>G	c.(1954-1956)ggA>ggG	p.G652G	MROH2B_ENST00000506092.2_Silent_p.G207G	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	652								p.G652G(1)									TAGATGTTATTCCCTAAAATC	0.308																																																	1	Substitution - coding silent(1)	cervix(1)											40.0	38.0	38.0					5																	41039655		1824	4074	5898	SO:0001819	synonymous_variant	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1956A>G	5.37:g.41039655T>C			Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	superfamily_ARM-type_fold	p.G652	ENST00000399564.4	37	c.1956	CCDS47202.1	5																																																																																			HEATR7B2	-	superfamily_ARM-type_fold		0.308	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	T	NM_173489		41039655	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	silent	SNP	0.997	C
HERC4	26091	genome.wustl.edu	37	10	69832930	69832930	+	5'UTR	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr10:69832930G>A	ENST00000395198.3	-	0	183				HERC4_ENST00000395187.2_5'UTR|HERC4_ENST00000373700.4_5'UTR|HERC4_ENST00000412272.2_5'UTR|HERC4_ENST00000492996.2_5'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4						cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CGGAAAGTTGGAGGTACCCTA	0.368																																																	0																																										SO:0001623	5_prime_UTR_variant	26091			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.-65C>T	10.37:g.69832930G>A			Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	RNA	SNP	-	NULL	ENST00000395198.3	37	NULL	CCDS41533.1	10																																																																																			HERC4	-	-		0.368	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1	G	NM_015601		69832930	-1	no_errors	ENST00000395185	ensembl	human	known	70_37	rna	SNP	0.996	A
HOXA3	3200	genome.wustl.edu	37	7	27147688	27147688	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr7:27147688G>A	ENST00000396352.4	-	3	1377	c.1178C>T	c.(1177-1179)tCg>tTg	p.S393L	HOXA3_ENST00000317201.2_Missense_Mutation_p.S393L|HOXA3_ENST00000521401.1_5'Flank|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	393					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S393L(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CATGGCGCCCGAGGCAGCGTG	0.701																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)												1	Substitution - Missense(1)	cervix(1)											31.0	34.0	33.0					7																	27147688		2203	4299	6502	SO:0001583	missense	3200				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.1178C>T	7.37:g.27147688G>A	ENSP00000379640:p.Ser393Leu		A4D181	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S393L	ENST00000396352.4	37	c.1178	CCDS5404.1	7	.	.	.	.	.	.	.	.	.	.	G	13.94	2.385859	0.42308	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.87103	-2.21;-2.21	5.6	4.71	0.59529	.	0.388897	0.29830	N	0.011089	D	0.87152	0.6106	M	0.80982	2.52	0.43238	D	0.995145	P	0.36944	0.574	B	0.31869	0.137	D	0.87949	0.2722	10	0.87932	D	0	.	15.9334	0.79683	0.0:0.0:0.8639:0.1361	.	393	O43365	HXA3_HUMAN	L	393;393;235	ENSP00000379640:S393L;ENSP00000324884:S393L	ENSP00000324884:S393L	S	-	2	0	HOXA3	27114213	1.000000	0.71417	0.452000	0.26994	0.838000	0.47535	6.461000	0.73522	1.361000	0.45981	0.591000	0.81541	TCG	HOXA3	-	NULL		0.701	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA3	HGNC	protein_coding	OTTHUMT00000358708.2	G			27147688	-1	no_errors	ENST00000317201	ensembl	human	known	70_37	missense	SNP	0.905	A
HOXD10	3236	genome.wustl.edu	37	2	176982180	176982180	+	Missense_Mutation	SNP	G	G	T	rs148563899		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:176982180G>T	ENST00000249501.4	+	1	874	c.619G>T	c.(619-621)Ggc>Tgc	p.G207C	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	207					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCCCGTGAGCGGCCAGGAGCC	0.652																																																	0																																										SO:0001583	missense	3236				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.619G>T	2.37:g.176982180G>T	ENSP00000249501:p.Gly207Cys		Q6NT10	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.G207C	ENST00000249501.4	37	c.619	CCDS2266.1	2	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321771	0.23994	.	.	ENSG00000128710	ENST00000249501	D	0.93811	-3.29	5.96	2.82	0.32997	.	0.565210	0.21573	N	0.072363	D	0.86648	0.5983	N	0.08118	0	0.24747	N	0.993006	B	0.27380	0.177	B	0.39840	0.311	T	0.79699	-0.1694	10	0.56958	D	0.05	.	7.4162	0.27047	0.4564:0.0:0.5436:0.0	.	207	P28358	HXD10_HUMAN	C	207	ENSP00000249501:G207C	ENSP00000249501:G207C	G	+	1	0	HOXD10	176690426	1.000000	0.71417	0.977000	0.42913	0.956000	0.61745	1.772000	0.38552	0.862000	0.35528	0.650000	0.86243	GGC	HOXD10	-	NULL		0.652	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD10	HGNC	protein_coding	OTTHUMT00000255692.2	G			176982180	+1	no_errors	ENST00000249501	ensembl	human	known	70_37	missense	SNP	0.889	T
IGSF9	57549	genome.wustl.edu	37	1	159898366	159898366	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:159898366C>T	ENST00000368094.1	-	19	3009	c.2812G>A	c.(2812-2814)Gat>Aat	p.D938N	IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000368097.4_5'Flank|IGSF9_ENST00000361509.3_Missense_Mutation_p.D922N	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	938	Pro-rich.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.D922H(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGTCCCCATCCACATTCATC	0.637																																																	1	Substitution - Missense(1)	lung(1)											19.0	20.0	19.0					1																	159898366		2201	4297	6498	SO:0001583	missense	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2812G>A	1.37:g.159898366C>T	ENSP00000357073:p.Asp938Asn			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D938N	ENST00000368094.1	37	c.2812	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366472	0.82463	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.75821	-0.97;-0.89	4.63	4.63	0.57726	.	0.000000	0.39475	N	0.001351	T	0.70988	0.3287	L	0.27053	0.805	0.36082	D	0.842867	D;D	0.89917	0.993;1.0	D;D	0.80764	0.984;0.994	T	0.71593	-0.4546	9	.	.	.	-5.0638	15.0052	0.71507	0.0:1.0:0.0:0.0	.	938;476	Q9P2J2;C9JI81	TUTLA_HUMAN;.	N	922;938;476	ENSP00000355049:D922N;ENSP00000357073:D938N	.	D	-	1	0	IGSF9	158164990	0.994000	0.37717	1.000000	0.80357	0.982000	0.71751	1.869000	0.39519	2.378000	0.81104	0.655000	0.94253	GAT	IGSF9	-	NULL		0.637	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	C	NM_020789		159898366	-1	no_errors	ENST00000368094	ensembl	human	known	70_37	missense	SNP	1.000	T
IMMP1L	196294	genome.wustl.edu	37	11	31477934	31477934	+	Splice_Site	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:31477934C>G	ENST00000278200.1	-	5	390		c.e5-1		IMMP1L_ENST00000532287.1_Splice_Site|IMMP1L_ENST00000528161.1_Splice_Site|IMMP1L_ENST00000526776.1_Intron|IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000534812.1_Intron	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)						protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	serine-type peptidase activity (GO:0008236)	p.?(1)		breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					AATGTCACCTCTGAGGGGGAA	0.348																																																	1	Unknown(1)	cervix(1)											48.0	47.0	47.0					11																	31477934		2202	4297	6499	SO:0001630	splice_region_variant	196294				CCDS7874.1	11p13	2014-07-30			ENSG00000148950	ENSG00000148950			26317	protein-coding gene	gene with protein product		612323					Standard	NM_144981		Approved	FLJ25059	uc001msy.1	Q96LU5	OTTHUMG00000166226	ENST00000278200.1:c.195-1G>C	11.37:g.31477934C>G			D3DQZ7|Q96SH9	Splice_Site	SNP	-	e3-1	ENST00000278200.1	37	c.195-1	CCDS7874.1	11	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936148	0.73442	.	.	ENSG00000148950	ENST00000532287;ENST00000278200;ENST00000529749;ENST00000530023	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4219	0.94725	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IMMP1L	31434510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.116000	0.77119	2.585000	0.87301	0.655000	0.94253	.	IMMP1L	-	-		0.348	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMMP1L	HGNC	protein_coding	OTTHUMT00000388496.1	C	NM_144981	Intron	31477934	-1	no_errors	ENST00000278200	ensembl	human	known	70_37	splice_site	SNP	1.000	G
INTS4	92105	genome.wustl.edu	37	11	77632453	77632453	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:77632453G>A	ENST00000534064.1	-	14	1731	c.1697C>T	c.(1696-1698)tCa>tTa	p.S566L	INTS4_ENST00000525931.1_5'Flank	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	566					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.S566L(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GGTGTGATCTGAGAACAATGC	0.408																																																	1	Substitution - Missense(1)	cervix(1)											160.0	138.0	146.0					11																	77632453		2200	4292	6492	SO:0001583	missense	92105			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1697C>T	11.37:g.77632453G>A	ENSP00000434466:p.Ser566Leu		Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.S566L	ENST00000534064.1	37	c.1697	CCDS31644.1	11	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784731	0.70222	.	.	ENSG00000149262	ENST00000534064;ENST00000354849	D	0.85702	-2.02	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.87892	0.6292	L	0.51422	1.61	0.80722	D	1	D	0.58268	0.982	P	0.55545	0.778	D	0.87742	0.2586	10	0.42905	T	0.14	-2.7737	17.6231	0.88087	0.0:0.0:1.0:0.0	.	566	Q96HW7	INT4_HUMAN	L	566;417	ENSP00000434466:S566L	ENSP00000346913:S417L	S	-	2	0	INTS4	77310101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.853000	0.92222	2.379000	0.81126	0.585000	0.79938	TCA	INTS4	-	NULL		0.408	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS4	HGNC	protein_coding	OTTHUMT00000390927.1	G	NM_033547		77632453	-1	no_errors	ENST00000534064	ensembl	human	known	70_37	missense	SNP	1.000	A
JAKMIP2	9832	genome.wustl.edu	37	5	147015790	147015790	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:147015790C>G	ENST00000265272.5	-	12	2139	c.1672G>C	c.(1672-1674)Gaa>Caa	p.E558Q	JAKMIP2_ENST00000507386.1_Intron|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E516Q	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	558						Golgi apparatus (GO:0005794)		p.E558Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATACCTTTTCTAAAAGCTCC	0.493																																																	1	Substitution - Missense(1)	cervix(1)											109.0	94.0	99.0					5																	147015790		2203	4300	6503	SO:0001583	missense	9832			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1672G>C	5.37:g.147015790C>G	ENSP00000265272:p.Glu558Gln		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	NULL	p.E558Q	ENST00000265272.5	37	c.1672	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130662	0.56828	.	.	ENSG00000176049	ENST00000265272;ENST00000333010	T;T	0.29397	1.57;1.57	6.04	5.15	0.70609	.	0.108333	0.64402	D	0.000004	T	0.34077	0.0885	M	0.64170	1.965	0.46078	D	0.998852	B;B;B	0.29301	0.241;0.241;0.081	B;B;B	0.28139	0.086;0.086;0.086	T	0.08146	-1.0736	10	0.40728	T	0.16	.	16.7481	0.85478	0.1297:0.8703:0.0:0.0	.	516;558;558	B4DSG0;Q96AA8-3;Q96AA8	.;.;JKIP2_HUMAN	Q	558;516	ENSP00000265272:E558Q;ENSP00000328989:E516Q	ENSP00000265272:E558Q	E	-	1	0	JAKMIP2	146995983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.240000	0.58701	2.873000	0.98535	0.563000	0.77884	GAA	JAKMIP2	-	NULL		0.493	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	C	NM_014790		147015790	-1	no_errors	ENST00000265272	ensembl	human	known	70_37	missense	SNP	1.000	G
KANK1	23189	genome.wustl.edu	37	9	711531	711531	+	Silent	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr9:711531G>A	ENST00000382303.1	+	7	1417	c.765G>A	c.(763-765)gtG>gtA	p.V255V	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.V255V|KANK1_ENST00000382293.3_Silent_p.V97V	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	255					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.V97V(1)|p.V255V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TGACCAACGTGAGCCCCATGC	0.627																																																	2	Substitution - coding silent(2)	cervix(2)											66.0	63.0	64.0					9																	711531		2203	4300	6503	SO:0001819	synonymous_variant	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.765G>A	9.37:g.711531G>A			A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V255	ENST00000382303.1	37	c.765	CCDS34976.1	9																																																																																			KANK1	-	NULL		0.627	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	G	NM_015158		711531	+1	no_errors	ENST00000382297	ensembl	human	known	70_37	silent	SNP	1.000	A
KCNIP1	30820	genome.wustl.edu	37	5	169780916	169780916	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:169780916C>G	ENST00000377360.4	+	1	426	c.36C>G	c.(34-36)ttC>ttG	p.F12L	KCNIP1_ENST00000518527.1_3'UTR	NM_001034838.2	NP_001030010.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	0					detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)	p.F12L(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTTGGGTTCGTGAAATTTG	0.557																																																	1	Substitution - Missense(1)	cervix(1)											101.0	83.0	89.0					5																	169780916		2203	4300	6503	SO:0001583	missense	30820			AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000377360.4:c.36C>G	5.37:g.169780916C>G	ENSP00000366577:p.Phe12Leu		B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.F12L	ENST00000377360.4	37	c.36	CCDS34285.1	5	.	.	.	.	.	.	.	.	.	.	C	2.317	-0.356503	0.05138	.	.	ENSG00000182132	ENST00000377360	T	0.63913	-0.07	5.3	-0.812	0.10853	.	.	.	.	.	T	0.29355	0.0731	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05971	-1.0853	8	.	.	.	.	4.836	0.13466	0.0:0.3973:0.1552:0.4475	.	12	Q3YAD3	.	L	12	ENSP00000366577:F12L	.	F	+	3	2	KCNIP1	169713494	0.988000	0.35896	0.284000	0.24805	0.078000	0.17371	-0.032000	0.12266	-0.239000	0.09710	-0.140000	0.14226	TTC	KCNIP1	-	NULL		0.557	KCNIP1-005	KNOWN	basic|CCDS	protein_coding	KCNIP1	HGNC	protein_coding	OTTHUMT00000371845.1	C			169780916	+1	no_errors	ENST00000377360	ensembl	human	known	70_37	missense	SNP	0.824	G
KCNJ8	3764	genome.wustl.edu	37	12	21919223	21919223	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:21919223C>G	ENST00000240662.2	-	3	1054	c.709G>C	c.(709-711)Gaa>Caa	p.E237Q	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	237					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)	p.E237Q(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	ACCTCCCCTTCAGGTGTAGTT	0.488																																																	1	Substitution - Missense(1)	cervix(1)											121.0	110.0	114.0					12																	21919223		2203	4300	6503	SO:0001583	missense	3764			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.709G>C	12.37:g.21919223C>G	ENSP00000240662:p.Glu237Gln		O00657	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1	p.E237Q	ENST00000240662.2	37	c.709	CCDS8692.1	12	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125010	0.77436	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.96716	-4.1	5.11	5.11	0.69529	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98820	0.9602	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99513	1.0956	10	0.87932	D	0	.	18.7389	0.91767	0.0:1.0:0.0:0.0	.	237	Q15842	IRK8_HUMAN	Q	237	ENSP00000240662:E237Q	ENSP00000240662:E237Q	E	-	1	0	KCNJ8	21810490	1.000000	0.71417	0.309000	0.25155	0.790000	0.44656	7.638000	0.83328	2.667000	0.90743	0.563000	0.77884	GAA	KCNJ8	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.488	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ8	HGNC	protein_coding	OTTHUMT00000402226.1	C	NM_004982		21919223	-1	no_errors	ENST00000240662	ensembl	human	known	70_37	missense	SNP	1.000	G
KCNQ5	56479	genome.wustl.edu	37	6	73787562	73787562	+	Silent	SNP	T	T	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr6:73787562T>C	ENST00000370398.1	+	5	979	c.870T>C	c.(868-870)gaT>gaC	p.D290D	KCNQ5_ENST00000414165.2_Silent_p.D290D|KCNQ5_ENST00000342056.2_Silent_p.D290D|KCNQ5_ENST00000370392.1_Silent_p.D290D|KCNQ5_ENST00000403813.2_Silent_p.D290D|KCNQ5_ENST00000402622.2_Silent_p.D290D|KCNQ5_ENST00000355635.3_Silent_p.D290D|KCNQ5_ENST00000355194.4_Silent_p.D290D	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	290					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.D290D(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TGGAAAAGGATGCCAATAAAG	0.318																																					GBM(142;1375 1859 14391 23261 44706)												1	Substitution - coding silent(1)	cervix(1)											120.0	105.0	110.0					6																	73787562		2203	4300	6503	SO:0001819	synonymous_variant	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.870T>C	6.37:g.73787562T>C			A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.D290	ENST00000370398.1	37	c.870	CCDS4976.1	6																																																																																			KCNQ5	-	pfam_Ion_trans_dom,pfam_Ion_trans_2		0.318	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	T	NM_019842		73787562	+1	no_errors	ENST00000402622	ensembl	human	known	70_37	silent	SNP	1.000	C
SPIDR	23514	genome.wustl.edu	37	8	48614331	48614331	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr8:48614331C>T	ENST00000297423.4	+	13	2206	c.1822C>T	c.(1822-1824)Cat>Tat	p.H608Y	SPIDR_ENST00000518074.1_Missense_Mutation_p.H548Y|SPIDR_ENST00000517693.1_Missense_Mutation_p.H83Y|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.H538Y	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	608					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)		p.H608Y(1)									CCTCACAGCTCATCCAAATCT	0.398																																																	1	Substitution - Missense(1)	cervix(1)											157.0	149.0	152.0					8																	48614331		1885	4115	6000	SO:0001583	missense	23514			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1822C>T	8.37:g.48614331C>T	ENSP00000297423:p.His608Tyr		B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	NULL	p.H608Y	ENST00000297423.4	37	c.1822	CCDS43737.1	8	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.776689	0.00640	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362	.	.	.	5.41	4.34	0.51931	.	0.633957	0.17217	N	0.182479	T	0.36441	0.0967	L	0.59436	1.845	0.09310	N	1	P;P;P;P;P;B;P;P	0.44090	0.744;0.744;0.826;0.729;0.467;0.118;0.744;0.729	B;B;B;B;B;B;B;B	0.41988	0.341;0.341;0.201;0.372;0.176;0.126;0.26;0.372	T	0.38045	-0.9679	9	0.02654	T	1	.	12.983	0.58575	0.0:0.9092:0.0:0.0908	.	98;113;548;538;608;297;83;608	B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B4DFT3;B3KP42;Q14159	.;.;.;.;.;.;.;K0146_HUMAN	Y	608;548;538;113;83;83	.	ENSP00000297423:H608Y	H	+	1	0	KIAA0146	48776884	0.018000	0.18449	0.015000	0.15790	0.019000	0.09904	1.872000	0.39549	2.547000	0.85894	0.655000	0.94253	CAT	KIAA0146	-	NULL		0.398	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0146	HGNC	protein_coding	OTTHUMT00000377611.1	C	NM_001080394		48614331	+1	no_errors	ENST00000297423	ensembl	human	known	70_37	missense	SNP	0.019	T
KIAA1257	57501	genome.wustl.edu	37	3	128697045	128697045	+	Intron	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr3:128697045G>A	ENST00000265068.5	-	5	835				KIAA1257_ENST00000515659.1_Intron|KIAA1257_ENST00000511438.1_Intron|KIAA1257_ENST00000510149.1_Intron	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257											breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TGCAGGAGAAGAAAGGATCAT	0.373																																																	0													91.0	83.0	85.0					3																	128697045		1835	4089	5924	SO:0001627	intron_variant	57501			AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.668-17C>T	3.37:g.128697045G>A			Q8IXY7|Q8N5T4	RNA	SNP	-	NULL	ENST00000265068.5	37	NULL	CCDS46905.1	3																																																																																			KIAA1257	-	-		0.373	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	KIAA1257	HGNC	protein_coding	OTTHUMT00000358430.1	G	NM_020741		128697045	-1	no_errors	ENST00000507225	ensembl	human	known	70_37	rna	SNP	0.001	A
KRTAP1-3	81850	genome.wustl.edu	37	17	39190875	39190875	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr17:39190875C>G	ENST00000344363.5	-	1	232	c.199G>C	c.(199-201)Gag>Cag	p.E67Q		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	77			Missing (in allele KAP1.9). {ECO:0000269|PubMed:12228244}.	GFPSFSTSGTCSS -> DFLASQLVDLQL (in Ref. 1). {ECO:0000305}.		keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.E67Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCTGGTCTCACAGCAGCTT	0.617																																																	1	Substitution - Missense(1)	cervix(1)											30.0	35.0	33.0					17																	39190875		1980	4162	6142	SO:0001583	missense	81850			AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.199G>C	17.37:g.39190875C>G	ENSP00000344420:p.Glu67Gln		Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	pfam_Keratin-assoc	p.E67Q	ENST00000344363.5	37	c.199	CCDS42323.1	17	.	.	.	.	.	.	.	.	.	.	C	0.314	-0.966212	0.02232	.	.	ENSG00000221880	ENST00000344363	T	0.27890	1.64	3.48	-5.07	0.02938	.	.	.	.	.	T	0.12008	0.0292	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.39981	-0.9587	8	0.09338	T	0.73	.	8.6903	0.34262	0.0:0.5354:0.201:0.2637	.	77	Q8IUG1	KRA13_HUMAN	Q	67	ENSP00000344420:E67Q	ENSP00000344420:E67Q	E	-	1	0	KRTAP1-3	36444401	0.750000	0.28316	0.000000	0.03702	0.179000	0.23085	-0.001000	0.12947	-0.956000	0.03631	-0.436000	0.05848	GAG	KRTAP1-3	-	pfam_Keratin-assoc		0.617	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP1-3	HGNC	protein_coding	OTTHUMT00000257687.1	C			39190875	-1	no_errors	ENST00000344363	ensembl	human	known	70_37	missense	SNP	0.000	G
LCMT1	51451	genome.wustl.edu	37	16	25123262	25123262	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr16:25123262G>T	ENST00000399069.3	+	1	213	c.58G>T	c.(58-60)Gac>Tac	p.D20Y	LCMT1_ENST00000380966.4_Missense_Mutation_p.D20Y|RP11-449H11.1_ENST00000563962.1_lincRNA	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	20					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CTCGAGCTGCGACGCAGACGA	0.677																																					Colon(200;565 2072 24396 47922 50898)												0													30.0	33.0	32.0					16																	25123262		1995	4156	6151	SO:0001583	missense	51451			AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.58G>T	16.37:g.25123262G>T	ENSP00000382021:p.Asp20Tyr		A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1	p.D20Y	ENST00000399069.3	37	c.58	CCDS45445.1	16	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698787	0.48307	.	.	ENSG00000205629	ENST00000399069;ENST00000380966	T;T	0.45668	1.9;0.89	4.02	1.95	0.26073	.	13.069700	0.00718	N	0.000879	T	0.58652	0.2137	L	0.61218	1.895	0.18873	N	0.999987	D;D	0.76494	0.995;0.999	D;P	0.63113	0.911;0.894	T	0.14671	-1.0464	10	0.66056	D	0.02	.	4.5712	0.12210	0.1167:0.0:0.6655:0.2177	.	20;20	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	Y	20	ENSP00000382021:D20Y;ENSP00000370353:D20Y	ENSP00000370353:D20Y	D	+	1	0	LCMT1	25030763	0.835000	0.29415	0.004000	0.12327	0.204000	0.24138	2.378000	0.44309	0.407000	0.25591	0.563000	0.77884	GAC	LCMT1	-	pirsf_Leu_CO_MeTrfase_LCTM1		0.677	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT1	HGNC	protein_coding	OTTHUMT00000435747.4	G	NM_016309		25123262	+1	no_errors	ENST00000399069	ensembl	human	known	70_37	missense	SNP	0.010	T
LIG4	3981	genome.wustl.edu	37	13	108863389	108863389	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr13:108863389T>G	ENST00000356922.4	-	2	500	c.228A>C	c.(226-228)gaA>gaC	p.E76D	LIG4_ENST00000442234.1_Missense_Mutation_p.E76D|LIG4_ENST00000405925.1_Missense_Mutation_p.E76D	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	76					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.E76D(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTCTCTCTCTTTCTAGCTGAG	0.353								Non-homologous end-joining																																									1	Substitution - Missense(1)	cervix(1)											103.0	107.0	105.0					13																	108863389		2203	4300	6503	SO:0001583	missense	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.228A>C	13.37:g.108863389T>G	ENSP00000349393:p.Glu76Asp		Q8IY66|Q8TEU5	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.E76D	ENST00000356922.4	37	c.228	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	T	3.436	-0.115149	0.06881	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.15603	2.41;2.41;2.41	6.05	0.837	0.18896	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.04952	0.0133	N	0.02665	-0.54	0.54753	D	0.999984	B	0.22146	0.065	B	0.23275	0.045	T	0.42120	-0.9470	10	0.02654	T	1	.	9.5735	0.39442	0.0:0.2619:0.0:0.7381	.	76	P49917	DNLI4_HUMAN	D	76	ENSP00000385955:E76D;ENSP00000402030:E76D;ENSP00000349393:E76D	ENSP00000349393:E76D	E	-	3	2	LIG4	107661390	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.377000	0.20552	0.144000	0.18951	0.523000	0.50628	GAA	LIG4	-	pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N		0.353	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	T	NM_002312		108863389	-1	no_errors	ENST00000356922	ensembl	human	known	70_37	missense	SNP	0.998	G
LINS	55180	genome.wustl.edu	37	15	101110021	101110021	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr15:101110021C>G	ENST00000314742.8	-	7	1918	c.1696G>C	c.(1696-1698)Gac>Cac	p.D566H	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	566								p.D566H(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						GAGCTTTGGTCTTGGACAAGT	0.448																																																	1	Substitution - Missense(1)	cervix(1)											90.0	83.0	85.0					15																	101110021		2203	4300	6503	SO:0001583	missense	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1696G>C	15.37:g.101110021C>G	ENSP00000318423:p.Asp566His		Q96FW2|Q9NVQ3	Missense_Mutation	SNP	NULL	p.D566H	ENST00000314742.8	37	c.1696	CCDS10385.1	15	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208421	0.58343	.	.	ENSG00000140471	ENST00000314742	T	0.11063	2.81	5.65	4.73	0.59995	.	0.883497	0.10012	N	0.727028	T	0.09949	0.0244	L	0.29908	0.895	0.25032	N	0.99127	B	0.27700	0.186	B	0.26969	0.075	T	0.11203	-1.0597	10	0.48119	T	0.1	-0.411	10.9202	0.47161	0.0:0.7597:0.1644:0.0759	.	566	Q8NG48	LINES_HUMAN	H	566	ENSP00000318423:D566H	ENSP00000318423:D566H	D	-	1	0	LINS	98927544	0.200000	0.23398	0.773000	0.31616	0.635000	0.38103	1.566000	0.36396	2.658000	0.90341	0.655000	0.94253	GAC	LINS	-	NULL		0.448	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINS	HGNC	protein_coding	OTTHUMT00000313592.1	C	NM_018148		101110021	-1	no_errors	ENST00000314742	ensembl	human	known	70_37	missense	SNP	0.127	G
NPIPB11	728888	genome.wustl.edu	37	16	29395073	29395073	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr16:29395073C>G	ENST00000524087.1	-	8	1254	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	394	Pro-rich.					integral component of membrane (GO:0016021)											AGCTGACGCTCAGAAGGTGTC	0.582																																																	0																																										SO:0001583	missense	728888					16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.1180G>C	16.37:g.29395073C>G	ENSP00000430853:p.Glu394Gln			Missense_Mutation	SNP	pfam_NPIP	p.E394Q	ENST00000524087.1	37	c.1180		16	.	.	.	.	.	.	.	.	.	.	C	8.755	0.922257	0.17982	.	.	ENSG00000254206	ENST00000524087	T	0.28895	1.59	.	.	.	.	.	.	.	.	T	0.17109	0.0411	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.26360	-1.0105	5	0.38643	T	0.18	.	.	.	.	.	.	.	.	Q	394	ENSP00000430853:E394Q	ENSP00000430853:E394Q	E	-	1	0	RP11-231C14.2	29302574	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.076000	0.14712	0.073000	0.16731	0.074000	0.15403	GAG	61E3.4	-	pfam_NPIP		0.582	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	LOC728888	Uniprot_genename	protein_coding	OTTHUMT00000374094.1	C	XM_002343430		29395073	-1	no_errors	ENST00000524087	ensembl	human	putative	70_37	missense	SNP	0.002	G
LRIG3	121227	genome.wustl.edu	37	12	59284455	59284455	+	Silent	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:59284455G>C	ENST00000320743.3	-	4	793	c.507C>G	c.(505-507)ctC>ctG	p.L169L	LRIG3_ENST00000379141.4_Silent_p.L109L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	169					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L169L(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ACAGATATTTGAGCTGTAGGG	0.338			T	ROS1	NSCLC																																			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	1	Substitution - coding silent(1)	cervix(1)											87.0	89.0	88.0					12																	59284455		2203	4300	6503	SO:0001819	synonymous_variant	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.507C>G	12.37:g.59284455G>C			Q6UXL7|Q8NC72	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L169	ENST00000320743.3	37	c.507	CCDS8960.1	12																																																																																			LRIG3	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.338	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG3	HGNC	protein_coding	OTTHUMT00000406623.1	G	NM_153377		59284455	-1	no_errors	ENST00000320743	ensembl	human	known	70_37	silent	SNP	1.000	C
LRP5	4041	genome.wustl.edu	37	11	68181426	68181426	+	Missense_Mutation	SNP	C	C	T	rs369471051		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:68181426C>T	ENST00000294304.7	+	12	2879	c.2773C>T	c.(2773-2775)Cgc>Tgc	p.R925C		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	925	EGF-like 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R925C(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGGCGGCCACCGCTGCGGCTG	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		17069	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	cervix(1)						C	CYS/ARG	0,4400		0,0,2200	31.0	30.0	31.0		2773	5.0	1.0	11		31	2,8582	2.2+/-6.3	0,2,4290	no	missense	LRP5	NM_002335.2	180	0,2,6490	TT,TC,CC		0.0233,0.0,0.0154	benign	925/1616	68181426	2,12982	2200	4292	6492	SO:0001583	missense	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2773C>T	11.37:g.68181426C>T	ENSP00000294304:p.Arg925Cys		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R925C	ENST00000294304.7	37	c.2773	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352144	0.61183	0.0	2.33E-4	ENSG00000162337	ENST00000294304	D	0.96651	-4.08	5.02	5.02	0.67125	Epidermal growth factor-like (1);	0.133086	0.28182	U	0.016281	D	0.95503	0.8539	M	0.83312	2.635	0.53005	D	0.999969	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	D	0.93138	0.6539	10	0.56958	D	0.05	.	11.3879	0.49796	0.3065:0.6935:0.0:0.0	.	925;925	Q9UES7;O75197	.;LRP5_HUMAN	C	925	ENSP00000294304:R925C	ENSP00000294304:R925C	R	+	1	0	LRP5	67938002	0.667000	0.27484	1.000000	0.80357	0.833000	0.47200	0.371000	0.20450	2.601000	0.87937	0.561000	0.74099	CGC	LRP5	-	smart_EG-like_dom,pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.642	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	C	NM_002335		68181426	+1	no_errors	ENST00000294304	ensembl	human	known	70_37	missense	SNP	1.000	T
LRRC16B	90668	genome.wustl.edu	37	14	24525915	24525915	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:24525915G>C	ENST00000342740.5	+	12	1104	c.950G>C	c.(949-951)cGa>cCa	p.R317P	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	317						cytoplasm (GO:0005737)		p.R317P(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		ATTTCCCCTCGAGGTACTCGC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											87.0	85.0	86.0					14																	24525915		2203	4300	6503	SO:0001583	missense	90668			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.950G>C	14.37:g.24525915G>C	ENSP00000340467:p.Arg317Pro		Q8TEF7|Q96HS9	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R317P	ENST00000342740.5	37	c.950	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213912	0.39102	.	.	ENSG00000186648	ENST00000342740	T	0.53423	0.62	5.78	4.89	0.63831	.	0.063063	0.64402	D	0.000012	T	0.53514	0.1801	L	0.57536	1.79	0.80722	D	1	D	0.67145	0.996	P	0.52267	0.694	T	0.56974	-0.7890	10	0.59425	D	0.04	-7.3039	11.0694	0.47995	0.0855:0.0:0.9145:0.0	.	317	Q8ND23	LR16B_HUMAN	P	317	ENSP00000340467:R317P	ENSP00000340467:R317P	R	+	2	0	LRRC16B	23595755	0.902000	0.30710	1.000000	0.80357	0.927000	0.56198	1.360000	0.34125	1.462000	0.47948	0.563000	0.77884	CGA	LRRC16B	-	NULL		0.597	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	G	NM_138360		24525915	+1	no_errors	ENST00000342740	ensembl	human	known	70_37	missense	SNP	1.000	C
LTBR	4055	genome.wustl.edu	37	12	6494466	6494466	+	Silent	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:6494466C>T	ENST00000228918.4	+	4	719	c.393C>T	c.(391-393)ttC>ttT	p.F131F	LTBR_ENST00000539925.1_Silent_p.F112F|LTBR_ENST00000541102.1_Silent_p.F24F|LTBR_ENST00000543190.1_Silent_p.F24F	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	131					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.F131F(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CGGGAATGTTCTGTGCTGCCT	0.642																																																	1	Substitution - coding silent(1)	cervix(1)											54.0	57.0	56.0					12																	6494466		2203	4300	6503	SO:0001819	synonymous_variant	4055			L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.393C>T	12.37:g.6494466C>T			B7Z1D2|D3DUR2|F5GXE7	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pirsf_TNFR_3_LTBR,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_3_LTBR	p.F131	ENST00000228918.4	37	c.393	CCDS8544.1	12																																																																																			LTBR	-	smart_TNFR/NGFR_Cys_rich_reg,pirsf_TNFR_3_LTBR		0.642	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBR	HGNC	protein_coding	OTTHUMT00000399422.1	C			6494466	+1	no_errors	ENST00000228918	ensembl	human	known	70_37	silent	SNP	0.987	T
LZTS1	11178	genome.wustl.edu	37	8	20107234	20107234	+	Silent	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr8:20107234C>T	ENST00000381569.1	-	4	2147	c.1790G>A	c.(1789-1791)tGa>tAa	p.*597*	LZTS1_ENST00000522290.1_Silent_p.*538*|LZTS1_ENST00000265801.6_Silent_p.*597*			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	0					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.*597*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GGCAGCCCCTCAGATCTCAGT	0.647																																																	1	Substitution - coding silent(1)	cervix(1)											51.0	46.0	48.0					8																	20107234		2203	4299	6502	SO:0001819	synonymous_variant	11178			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1790G>A	8.37:g.20107234C>T			D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	pfam_Fez1	p.*597	ENST00000381569.1	37	c.1790	CCDS6015.1	8																																																																																			LZTS1	-	NULL		0.647	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS1	HGNC	protein_coding	OTTHUMT00000214122.1	C	NM_021020		20107234	-1	no_errors	ENST00000265801	ensembl	human	known	70_37	silent	SNP	1.000	T
MAGEC1	9947	genome.wustl.edu	37	X	140994453	140994453	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chrX:140994453G>C	ENST00000285879.4	+	4	1549	c.1263G>C	c.(1261-1263)ttG>ttC	p.L421F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	421								p.L421F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTACTTTATTGAGTATTTTAC	0.463										HNSCC(15;0.026)																																							1	Substitution - Missense(1)	cervix(1)											103.0	114.0	110.0					X																	140994453		2194	4287	6481	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1263G>C	X.37:g.140994453G>C	ENSP00000285879:p.Leu421Phe		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.L421F	ENST00000285879.4	37	c.1263	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	g	2.639	-0.284584	0.05605	.	.	ENSG00000155495	ENST00000285879	T	0.02944	4.1	.	.	.	.	.	.	.	.	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	D	0.58970	0.984	P	0.59595	0.86	T	0.45585	-0.9251	8	0.87932	D	0	.	2.9033	0.05713	2.0E-4:2.0E-4:0.5066:0.493	.	421	O60732	MAGC1_HUMAN	F	421	ENSP00000285879:L421F	ENSP00000285879:L421F	L	+	3	2	MAGEC1	140822119	0.001000	0.12720	0.009000	0.14445	0.009000	0.06853	0.233000	0.17911	0.148000	0.19059	0.150000	0.16122	TTG	MAGEC1	-	NULL		0.463	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	G	NM_005462		140994453	+1	no_errors	ENST00000285879	ensembl	human	known	70_37	missense	SNP	0.003	C
MAP1A	4130	genome.wustl.edu	37	15	43815178	43815178	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr15:43815178C>A	ENST00000300231.5	+	4	1957	c.1507C>A	c.(1507-1509)Cag>Aag	p.Q503K	MAP1A_ENST00000382031.1_Missense_Mutation_p.Q741K|MAP1A_ENST00000399453.1_Missense_Mutation_p.Q503K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	503	9 X 3 AA repeats of K-K-[DE].				microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TTCTGAGCCCCAGACACCCCC	0.557																																																	0													47.0	49.0	48.0					15																	43815178		1970	4134	6104	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1507C>A	15.37:g.43815178C>A	ENSP00000300231:p.Gln503Lys		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.Q503K	ENST00000300231.5	37	c.1507	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	C	7.941	0.742795	0.15642	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.41758	0.99;0.99;0.99	5.07	5.07	0.68467	.	0.316167	0.17722	N	0.164182	T	0.19805	0.0476	N	0.08118	0	0.21822	N	0.999529	B	0.06786	0.001	B	0.01281	0.0	T	0.12502	-1.0545	10	0.02654	T	1	-8.6577	11.644	0.51250	0.2872:0.7128:0.0:0.0	.	503	P78559	MAP1A_HUMAN	K	741;503;503;503	ENSP00000371462:Q741K;ENSP00000382380:Q503K;ENSP00000300231:Q503K	ENSP00000300231:Q503K	Q	+	1	0	MAP1A	41602470	0.321000	0.24625	1.000000	0.80357	0.875000	0.50365	0.878000	0.28126	2.804000	0.96469	0.655000	0.94253	CAG	MAP1A	-	NULL		0.557	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	C	NM_002373		43815178	+1	no_errors	ENST00000399453	ensembl	human	known	70_37	missense	SNP	1.000	A
MED12L	116931	genome.wustl.edu	37	3	151107867	151107867	+	Missense_Mutation	SNP	T	T	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr3:151107867T>A	ENST00000474524.1	+	36	5485	c.5447T>A	c.(5446-5448)cTc>cAc	p.L1816H	MED12L_ENST00000273432.4_Missense_Mutation_p.L1676H	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1816						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.L1816H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTTACAACCTCGTGGGCCAG	0.502																																																	1	Substitution - Missense(1)	cervix(1)											173.0	181.0	178.0					3																	151107867		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5447T>A	3.37:g.151107867T>A	ENSP00000417235:p.Leu1816His		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.L1816H	ENST00000474524.1	37	c.5447	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	T	16.63	3.176027	0.57692	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.61392	0.37;0.11	5.86	5.86	0.93980	.	0.400535	0.25042	N	0.033594	T	0.53706	0.1813	N	0.22421	0.69	0.37152	D	0.90219	D;D	0.61697	0.99;0.97	P;P	0.50192	0.634;0.608	T	0.64702	-0.6345	10	0.87932	D	0	-17.5245	14.4967	0.67694	0.0:0.0:0.0:1.0	.	1676;1816	F8WAE6;Q86YW9	.;MD12L_HUMAN	H	1816;1676	ENSP00000417235:L1816H;ENSP00000273432:L1676H	ENSP00000273432:L1676H	L	+	2	0	MED12L	152590557	0.999000	0.42202	0.945000	0.38365	0.585000	0.36419	3.781000	0.55394	2.240000	0.73641	0.533000	0.62120	CTC	MED12L	-	NULL		0.502	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	T	NM_053002		151107867	+1	no_errors	ENST00000474524	ensembl	human	known	70_37	missense	SNP	0.981	A
METTL2B	55798	genome.wustl.edu	37	7	128119454	128119454	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr7:128119454G>C	ENST00000262432.8	+	3	482	c.445G>C	c.(445-447)Gaa>Caa	p.E149Q	RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000480046.1_Missense_Mutation_p.E84Q	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	149					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)	p.E149Q(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GAAGAGCCTTGAACATAAAAC	0.418																																																	1	Substitution - Missense(1)	cervix(1)											161.0	176.0	171.0					7																	128119454		2203	4300	6503	SO:0001583	missense	55798			AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.445G>C	7.37:g.128119454G>C	ENSP00000262432:p.Glu149Gln		B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd	p.E149Q	ENST00000262432.8	37	c.445	CCDS5803.2	7	.	.	.	.	.	.	.	.	.	.	G	3.173	-0.169534	0.06461	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;D;T	0.82711	2.19;-1.64;2.73	2.65	1.74	0.24563	.	1.742990	0.02499	N	0.090311	T	0.71459	0.3342	N	0.22421	0.69	0.09310	N	1	B;B	0.19817	0.039;0.009	B;B	0.18871	0.023;0.007	T	0.54873	-0.8228	10	0.15066	T	0.55	-1.2411	5.5248	0.16953	0.1667:0.0:0.8333:0.0	.	84;149	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	Q	143;149;84	ENSP00000418634:E143Q;ENSP00000262432:E149Q;ENSP00000418402:E84Q	ENSP00000262432:E149Q	E	+	1	0	METTL2B	127906690	0.001000	0.12720	0.002000	0.10522	0.116000	0.19942	1.036000	0.30228	0.453000	0.26858	0.405000	0.27470	GAA	METTL2B	-	pirsf_MeTrfase_METTL2_prd		0.418	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL2B	HGNC	protein_coding	OTTHUMT00000289817.1	G	NM_018396		128119454	+1	no_errors	ENST00000262432	ensembl	human	known	70_37	missense	SNP	0.003	C
MFSD8	256471	genome.wustl.edu	37	4	128886250	128886250	+	Silent	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:128886250G>C	ENST00000296468.3	-	2	166	c.39C>G	c.(37-39)ctC>ctG	p.L13L	MFSD8_ENST00000515130.1_5'UTR|C4orf29_ENST00000388795.5_5'Flank|C4orf29_ENST00000444616.1_5'Flank|MFSD8_ENST00000513559.1_Intron|C4orf29_ENST00000398965.1_5'Flank|MFSD8_ENST00000541133.1_Intron	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	13					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.L13L(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TGTCGCCTAAGAGCGGCTCCT	0.622																																																	1	Substitution - coding silent(1)	cervix(1)											67.0	61.0	63.0					4																	128886250		2203	4300	6503	SO:0001819	synonymous_variant	256471			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.39C>G	4.37:g.128886250G>C			B2RDM1|B7Z205|Q8N2P3	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L13	ENST00000296468.3	37	c.39	CCDS3736.1	4																																																																																			MFSD8	-	NULL		0.622	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD8	HGNC	protein_coding	OTTHUMT00000257097.1	G	NM_152778		128886250	-1	no_errors	ENST00000296468	ensembl	human	known	70_37	silent	SNP	0.007	C
PTK2	5747	genome.wustl.edu	37	8	141742741	141742741	+	Intron	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr8:141742741G>A	ENST00000522684.1	-	22	2260				PTK2_ENST00000538769.1_Intron|PTK2_ENST00000519465.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000517887.1_Intron|MIR151A_ENST00000521276.1_RNA	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			tgagctcctcgagggcaggaa	0.507																																																	0													52.0	51.0	51.0					8																	141742741		1567	3581	5148	SO:0001627	intron_variant	442893			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2030+2608C>T	8.37:g.141742741G>A			B4E2N6|F5H4S4|Q14291|Q9UD85	RNA	SNP	-	NULL	ENST00000522684.1	37	NULL	CCDS6381.1	8																																																																																			MIR151A	-	-		0.507	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR151A	HGNC	protein_coding	OTTHUMT00000378054.5	G	NM_005607		141742741	-1	no_errors	ENST00000385057	ensembl	human	known	70_37	rna	SNP	1.000	A
MKI67	4288	genome.wustl.edu	37	10	129902237	129902237	+	Missense_Mutation	SNP	T	T	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr10:129902237T>A	ENST00000368654.3	-	13	8242	c.7867A>T	c.(7867-7869)Acg>Tcg	p.T2623S	MKI67_ENST00000368653.3_Missense_Mutation_p.T2263S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2623	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.T2623S(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GATGTTTGCGTGAGCCTCTCA	0.502																																																	1	Substitution - Missense(1)	cervix(1)											170.0	152.0	158.0					10																	129902237		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7867A>T	10.37:g.129902237T>A	ENSP00000357643:p.Thr2623Ser		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.T2623S	ENST00000368654.3	37	c.7867	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	T	12.90	2.074994	0.36566	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02606	4.23;4.23	3.48	1.0	0.19881	.	2.961170	0.01403	N	0.013662	T	0.09818	0.0241	M	0.64404	1.975	0.09310	N	1	D;D;D	0.71674	0.99;0.996;0.998	P;D;D	0.75484	0.763;0.986;0.953	T	0.47611	-0.9104	10	0.09084	T	0.74	.	3.437	0.07449	0.0:0.1304:0.2366:0.6329	.	2622;2263;2623	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	S	2623;2263;2622	ENSP00000357643:T2623S;ENSP00000357642:T2263S	ENSP00000357642:T2263S	T	-	1	0	MKI67	129792227	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.940000	0.03929	0.075000	0.16796	0.460000	0.39030	ACG	MKI67	-	pfam_K167R		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	T	NM_002417		129902237	-1	no_errors	ENST00000368654	ensembl	human	known	70_37	missense	SNP	0.000	A
KMT2D	8085	genome.wustl.edu	37	12	49428024	49428024	+	Silent	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:49428024C>T	ENST00000301067.7	-	38	10565	c.10566G>A	c.(10564-10566)caG>caA	p.Q3522Q	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3522	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q3522Q(1)|p.Q3252Q(1)									TCAGCTGCATCTGTAGGAGCT	0.552																																																	2	Substitution - coding silent(2)	cervix(2)											92.0	94.0	93.0					12																	49428024		2021	4188	6209	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10566G>A	12.37:g.49428024C>T			O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3522	ENST00000301067.7	37	c.10566	CCDS44873.1	12																																																																																			MLL2	-	NULL		0.552	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49428024	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	silent	SNP	1.000	T
MMP12	4321	genome.wustl.edu	37	11	102742413	102742413	+	RNA	SNP	C	C	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:102742413C>A	ENST00000532855.1	-	0	632							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G179V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	GGCTAGGATTCCACCTTTGCC	0.443																																																	1	Substitution - Missense(1)	cervix(1)											50.0	48.0	49.0					11																	102742413		1913	4132	6045			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102742413C>A			B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	-	NULL	ENST00000532855.1	37	NULL		11																																																																																			MMP12	-	-		0.443	MMP12-001	KNOWN	basic	processed_transcript	MMP12	HGNC	processed_transcript	OTTHUMT00000386646.1	C	NM_002426		102742413	-1	no_errors	ENST00000326227	ensembl	human	known	70_37	rna	SNP	0.997	A
MMRN1	22915	genome.wustl.edu	37	4	90816360	90816360	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:90816360A>C	ENST00000394980.1	+	2	557	c.238A>C	c.(238-240)Aaa>Caa	p.K80Q	MMRN1_ENST00000264790.2_Missense_Mutation_p.K80Q|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	80					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.K80Q(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAGTCTTCTTAAATCAACACT	0.448																																																	1	Substitution - Missense(1)	cervix(1)											66.0	66.0	66.0					4																	90816360		2203	4300	6503	SO:0001583	missense	22915			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.238A>C	4.37:g.90816360A>C	ENSP00000378431:p.Lys80Gln		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q	p.K80Q	ENST00000394980.1	37	c.238	CCDS3635.1	4	.	.	.	.	.	.	.	.	.	.	A	1.636	-0.517801	0.04171	.	.	ENSG00000138722	ENST00000394980;ENST00000264790	T;T	0.61980	0.06;0.06	4.67	2.43	0.29744	.	0.540328	0.16403	N	0.215951	T	0.45236	0.1332	L	0.38175	1.15	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.29731	-1.0002	10	0.02654	T	1	.	10.9411	0.47275	0.6025:0.3975:0.0:0.0	.	80	Q13201	MMRN1_HUMAN	Q	80	ENSP00000378431:K80Q;ENSP00000264790:K80Q	ENSP00000264790:K80Q	K	+	1	0	MMRN1	91035383	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.398000	0.20899	0.092000	0.17331	-1.783000	0.00646	AAA	MMRN1	-	NULL		0.448	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	HGNC	protein_coding	OTTHUMT00000253546.2	A	NM_007351		90816360	+1	no_errors	ENST00000264790	ensembl	human	known	70_37	missense	SNP	0.005	C
MYF6	4618	genome.wustl.edu	37	12	81101787	81101787	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:81101787G>T	ENST00000228641.3	+	1	511	c.289G>T	c.(289-291)Gcc>Tcc	p.A97S		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	97	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A97S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CCGGCGAAAAGCCGCCACCCT	0.632																																																	1	Substitution - Missense(1)	cervix(1)											37.0	42.0	40.0					12																	81101787		2202	4300	6502	SO:0001583	missense	4618				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.289G>T	12.37:g.81101787G>T	ENSP00000228641:p.Ala97Ser		B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom	p.A97S	ENST00000228641.3	37	c.289	CCDS9019.1	12	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809271	0.90707	.	.	ENSG00000111046	ENST00000228641	D	0.98060	-4.69	5.62	5.62	0.85841	Myogenic basic muscle-specific protein (1);Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99804	1.1037	10	0.87932	D	0	-43.1342	19.6517	0.95819	0.0:0.0:1.0:0.0	.	97	P23409	MYF6_HUMAN	S	97	ENSP00000228641:A97S	ENSP00000228641:A97S	A	+	1	0	MYF6	79625918	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.659000	0.83766	2.662000	0.90505	0.655000	0.94253	GCC	MYF6	-	pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,pfscan_HLH_dom		0.632	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF6	HGNC	protein_coding	OTTHUMT00000407756.1	G	NM_002469		81101787	+1	no_errors	ENST00000228641	ensembl	human	known	70_37	missense	SNP	1.000	T
MYH7B	57644	genome.wustl.edu	37	20	33575936	33575936	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr20:33575936G>C	ENST00000262873.7	+	17	1676	c.1584G>C	c.(1582-1584)gaG>gaC	p.E528D	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	486	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E528D(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCACCAATGAGAAATTGCAGC	0.557																																																	1	Substitution - Missense(1)	cervix(1)											87.0	88.0	88.0					20																	33575936		2203	4300	6503	SO:0001583	missense	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1584G>C	20.37:g.33575936G>C	ENSP00000262873:p.Glu528Asp		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E528D	ENST00000262873.7	37	c.1584	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723802	0.68959	.	.	ENSG00000078814	ENST00000262873	D	0.81739	-1.53	3.8	3.8	0.43715	Myosin head, motor domain (3);	0.000000	0.34268	N	0.004105	D	0.92756	0.7697	H	0.99507	4.6	0.47123	D	0.999326	D	0.56035	0.974	P	0.59546	0.859	D	0.94425	0.7644	10	0.87932	D	0	.	11.6086	0.51047	0.089:0.0:0.911:0.0	.	486	A7E2Y1	MYH7B_HUMAN	D	528	ENSP00000262873:E528D	ENSP00000262873:E528D	E	+	3	2	MYH7B	33039597	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.083000	0.50136	2.415000	0.81967	0.561000	0.74099	GAG	MYH7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.557	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	G	NM_020884		33575936	+1	no_errors	ENST00000262873	ensembl	human	novel	70_37	missense	SNP	1.000	C
NALCN	259232	genome.wustl.edu	37	13	101777027	101777027	+	Silent	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr13:101777027G>A	ENST00000251127.6	-	18	2205	c.2124C>T	c.(2122-2124)cgC>cgT	p.R708R		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	708					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R708R(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAACAGACTTGCGAAGCTGAA	0.328																																																	1	Substitution - coding silent(1)	cervix(1)											123.0	118.0	120.0					13																	101777027		2203	4300	6503	SO:0001819	synonymous_variant	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2124C>T	13.37:g.101777027G>A			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.R708	ENST00000251127.6	37	c.2124	CCDS9498.1	13																																																																																			NALCN	-	NULL		0.328	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	G	NM_052867		101777027	-1	no_errors	ENST00000251127	ensembl	human	known	70_37	silent	SNP	1.000	A
NBPF20	100288142	genome.wustl.edu	37	1	148344705	148344705	+	Silent	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:148344705C>G	ENST00000369202.1	-	3	410	c.213G>C	c.(211-213)ctG>ctC	p.L71L	NBPF20_ENST00000414710.2_Silent_p.L71L			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	71						cytoplasm (GO:0005737)		p.L71L(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						GCTCATTCCTCAGCATAAATT	0.542																																																	1	Substitution - coding silent(1)	cervix(1)											75.0	80.0	79.0					1																	148344705		1727	3811	5538	SO:0001819	synonymous_variant	100288142				CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.213G>C	1.37:g.148344705C>G				Silent	SNP	pfam_NBPF_dom	p.L71	ENST00000369202.1	37	c.213		1																																																																																			NBPF20	-	NULL		0.542	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	NBPF20	HGNC	protein_coding	OTTHUMT00000100689.2	C			148344705	-1	no_errors	ENST00000369202	ensembl	human	known	70_37	silent	SNP	0.009	G
NOX1	27035	genome.wustl.edu	37	X	100118508	100118508	+	Missense_Mutation	SNP	C	C	T	rs373860304		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chrX:100118508C>T	ENST00000372966.3	-	3	423	c.218G>A	c.(217-219)cGc>cAc	p.R73H	NOX1_ENST00000372960.4_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.R73H|NOX1_ENST00000372964.1_Missense_Mutation_p.R73H	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	73	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)	p.R73H(2)		cervix(1)|lung(3)|ovary(1)|skin(2)	7						CAGCAGATTGCGACACACAGG	0.517																																																	2	Substitution - Missense(2)	cervix(2)											99.0	76.0	84.0					X																	100118508		2203	4299	6502	SO:0001583	missense	27035			AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.218G>A	X.37:g.100118508C>T	ENSP00000362057:p.Arg73His		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.R73H	ENST00000372966.3	37	c.218	CCDS14474.1	X	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697151	0.48202	.	.	ENSG00000007952	ENST00000372966;ENST00000372964;ENST00000372961;ENST00000217885	D;D;D	0.99778	-4.84;-6.73;-4.97	3.91	3.91	0.45181	Flavoprotein transmembrane component (1);	0.136302	0.47852	D	0.000201	D	0.99849	0.9930	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96464	0.9343	10	0.87932	D	0	-0.0256	14.1129	0.65134	0.0:1.0:0.0:0.0	.	73;73	Q9Y5S8-3;Q9Y5S8	.;NOX1_HUMAN	H	73	ENSP00000362057:R73H;ENSP00000362055:R73H;ENSP00000217885:R73H	ENSP00000217885:R73H	R	-	2	0	NOX1	100005164	1.000000	0.71417	0.421000	0.26609	0.068000	0.16541	4.744000	0.62118	1.954000	0.56735	0.594000	0.82650	CGC	NOX1	-	pfam_Fe3_Rdtase_TM_dom		0.517	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX1	HGNC	protein_coding	OTTHUMT00000057495.1	C	NM_007052		100118508	-1	no_errors	ENST00000372966	ensembl	human	known	70_37	missense	SNP	0.994	T
NTN1	9423	genome.wustl.edu	37	17	8926373	8926373	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr17:8926373C>T	ENST00000173229.2	+	2	790	c.683C>T	c.(682-684)tCg>tTg	p.S228L	NTN1_ENST00000546090.1_Missense_Mutation_p.S228L|NTN1_ENST00000538852.1_Missense_Mutation_p.S228L	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	228	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.S228L(1)	NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						GGGCGGCCCTCGGCGCACGAC	0.687																																																	1	Substitution - Missense(1)	cervix(1)											11.0	12.0	12.0					17																	8926373		2175	4278	6453	SO:0001583	missense	9423			U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.683C>T	17.37:g.8926373C>T	ENSP00000173229:p.Ser228Leu		E9KL51	Missense_Mutation	SNP	pfam_Laminin_N,pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.S228L	ENST00000173229.2	37	c.683	CCDS11148.1	17	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020543	0.93462	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090	T;T;T	0.79141	-1.24;-1.24;-1.24	5.01	5.01	0.66863	Laminin, N-terminal (3);	0.062569	0.64402	D	0.000003	D	0.90950	0.7155	M	0.93720	3.45	0.58432	D	0.999993	D	0.76494	0.999	D	0.71870	0.975	D	0.93158	0.6555	10	0.62326	D	0.03	.	17.9289	0.88991	0.0:1.0:0.0:0.0	.	228	O95631	NET1_HUMAN	L	228	ENSP00000173229:S228L;ENSP00000443259:S228L;ENSP00000441611:S228L	ENSP00000173229:S228L	S	+	2	0	NTN1	8867098	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.023000	0.70848	2.320000	0.78422	0.650000	0.86243	TCG	NTN1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.687	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN1	HGNC	protein_coding	OTTHUMT00000252583.1	C			8926373	+1	no_errors	ENST00000173229	ensembl	human	known	70_37	missense	SNP	1.000	T
NTNG2	84628	genome.wustl.edu	37	9	135042422	135042422	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr9:135042422C>G	ENST00000393229.3	+	2	980	c.204C>G	c.(202-204)ttC>ttG	p.F68L	NTNG2_ENST00000372179.3_Missense_Mutation_p.F68L|NTNG2_ENST00000360670.3_Missense_Mutation_p.F68L|NTNG2_ENST00000393228.4_Missense_Mutation_p.F68L	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	68	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)		p.F68L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CTGAGAGGTTCTGCTCCCATG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											98.0	104.0	102.0					9																	135042422		2203	4300	6503	SO:0001583	missense	84628			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.204C>G	9.37:g.135042422C>G	ENSP00000376921:p.Phe68Leu		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.F68L	ENST00000393229.3	37	c.204	CCDS6946.1	9	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932055	0.52866	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.67	4.77	0.60923	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000001	T	0.77458	0.4133	L	0.46819	1.47	0.44798	D	0.997801	P	0.45634	0.863	P	0.47915	0.561	T	0.79820	-0.1642	10	0.87932	D	0	.	13.5571	0.61765	0.0:0.9257:0.0:0.0743	.	68	Q96CW9	NTNG2_HUMAN	L	68	ENSP00000376921:F68L;ENSP00000376920:F68L;ENSP00000353888:F68L;ENSP00000361252:F68L	ENSP00000353888:F68L	F	+	3	2	NTNG2	134032243	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.073000	0.57570	1.392000	0.46585	0.561000	0.74099	TTC	NTNG2	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.582	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	HGNC	protein_coding	OTTHUMT00000054779.1	C	NM_032536		135042422	+1	no_errors	ENST00000360670	ensembl	human	known	70_37	missense	SNP	1.000	G
NUDC	10726	genome.wustl.edu	37	1	27271862	27271862	+	Intron	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:27271862C>G	ENST00000321265.5	+	7	864				NUDC_ENST00000484772.1_3'UTR	NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein						cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		CTCCCACCCTCTGGTTGTTCT	0.522																																																	0													52.0	47.0	49.0					1																	27271862		2203	4300	6503	SO:0001627	intron_variant	10726				CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"""nuclear distribution gene C homolog (A. nidulans)"", ""nuclear distribution C homolog (A. nidulans)"""				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.742-19C>G	1.37:g.27271862C>G			Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	RNA	SNP	-	NULL	ENST00000321265.5	37	NULL	CCDS292.1	1																																																																																			NUDC	-	-		0.522	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDC	HGNC	protein_coding	OTTHUMT00000012172.2	C			27271862	+1	no_errors	ENST00000484772	ensembl	human	known	70_37	rna	SNP	0.000	G
NUDC	10726	genome.wustl.edu	37	1	27271871	27271871	+	Intron	SNP	C	C	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:27271871C>A	ENST00000321265.5	+	7	864				NUDC_ENST00000484772.1_3'UTR	NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein						cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)		p.?(1)		cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		TCTGGTTGTTCTCTTCACAGA	0.522																																																	1	Unknown(1)	cervix(1)											56.0	50.0	52.0					1																	27271871		2203	4300	6503	SO:0001627	intron_variant	10726				CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"""nuclear distribution gene C homolog (A. nidulans)"", ""nuclear distribution C homolog (A. nidulans)"""				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.742-10C>A	1.37:g.27271871C>A			Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	RNA	SNP	-	NULL	ENST00000321265.5	37	NULL	CCDS292.1	1																																																																																			NUDC	-	-		0.522	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDC	HGNC	protein_coding	OTTHUMT00000012172.2	C			27271871	+1	no_errors	ENST00000484772	ensembl	human	known	70_37	rna	SNP	0.084	A
NUDC	10726	genome.wustl.edu	37	1	27272631	27272631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:27272631C>T	ENST00000321265.5	+	9	1078	c.955C>T	c.(955-957)Caa>Taa	p.Q319*	NUDC_ENST00000484772.1_3'UTR	NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	319					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)		p.Q319*(2)		cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GTTCATGGATCAACATCCGGA	0.478																																																	2	Substitution - Nonsense(2)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)											99.0	93.0	95.0					1																	27272631		2203	4300	6503	SO:0001587	stop_gained	10726				CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"""nuclear distribution gene C homolog (A. nidulans)"", ""nuclear distribution C homolog (A. nidulans)"""				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.955C>T	1.37:g.27272631C>T	ENSP00000319664:p.Gln319*		Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Nonsense_Mutation	SNP	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.Q319*	ENST00000321265.5	37	c.955	CCDS292.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.699264	0.96802	.	.	ENSG00000090273	ENST00000321265	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	0.0105	18.9343	0.92579	0.0:1.0:0.0:0.0	.	.	.	.	X	319	.	ENSP00000319664:Q319X	Q	+	1	0	NUDC	27145218	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.243000	0.78219	2.480000	0.83734	0.561000	0.74099	CAA	NUDC	-	NULL		0.478	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDC	HGNC	protein_coding	OTTHUMT00000012172.2	C			27272631	+1	no_errors	ENST00000321265	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NUP54	53371	genome.wustl.edu	37	4	77051823	77051823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:77051823G>A	ENST00000264883.3	-	8	1182	c.1042C>T	c.(1042-1044)Caa>Taa	p.Q348*	NUP54_ENST00000514987.1_Nonsense_Mutation_p.Q300*|NUP54_ENST00000458189.2_Nonsense_Mutation_p.Q168*|NUP54_ENST00000342467.6_Nonsense_Mutation_p.Q168*	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	348	9 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)	p.Q348*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AATCTGGTTTGATGCTGCTTA	0.388																																																	1	Substitution - Nonsense(1)	cervix(1)											94.0	74.0	81.0					4																	77051823		2203	4300	6503	SO:0001587	stop_gained	53371			AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.1042C>T	4.37:g.77051823G>A	ENSP00000264883:p.Gln348*		B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Nonsense_Mutation	SNP	NULL	p.Q348*	ENST00000264883.3	37	c.1042	CCDS3576.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.310417	0.98203	.	.	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-7.6896	19.5275	0.95212	0.0:0.0:1.0:0.0	.	.	.	.	X	348;168;300;168	.	ENSP00000264883:Q348X	Q	-	1	0	NUP54	77270847	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.363000	0.97131	2.616000	0.88540	0.563000	0.77884	CAA	NUP54	-	NULL		0.388	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP54	HGNC	protein_coding	OTTHUMT00000252402.3	G			77051823	-1	no_errors	ENST00000264883	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NYAP2	57624	genome.wustl.edu	37	2	226446723	226446723	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:226446723G>A	ENST00000272907.6	+	4	1003	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	197					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.R197Q(2)									AAACCGAAGCGAAATCCGAAC	0.502																																																	2	Substitution - Missense(2)	cervix(1)|large_intestine(1)											119.0	124.0	122.0					2																	226446723		1929	4133	6062	SO:0001583	missense	57624			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.590G>A	2.37:g.226446723G>A	ENSP00000272907:p.Arg197Gln		A2RRN4|Q96NL2	Missense_Mutation	SNP	NULL	p.R197Q	ENST00000272907.6	37	c.590	CCDS46529.1	2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448812	0.84101	.	.	ENSG00000144460	ENST00000272907	T	0.72394	-0.65	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.85890	0.5802	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.86308	0.1684	10	0.72032	D	0.01	-27.5579	20.3541	0.98825	0.0:0.0:1.0:0.0	.	197	Q9P242	K1486_HUMAN	Q	197	ENSP00000272907:R197Q	ENSP00000272907:R197Q	R	+	2	0	KIAA1486	226154967	1.000000	0.71417	0.267000	0.24556	0.429000	0.31625	9.472000	0.97709	2.816000	0.96949	0.644000	0.83932	CGA	NYAP2	-	NULL		0.502	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1	G	NM_020864		226446723	+1	no_errors	ENST00000272907	ensembl	human	known	70_37	missense	SNP	0.888	A
OR11H6	122748	genome.wustl.edu	37	14	20692813	20692813	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:20692813G>A	ENST00000315519.2	+	1	1023	c.945G>A	c.(943-945)atG>atA	p.M315I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M315I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		ACAAAGACATGAAAGATGCTC	0.393																																																	1	Substitution - Missense(1)	cervix(1)											86.0	91.0	90.0					14																	20692813		2203	4300	6503	SO:0001583	missense	122748				CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.945G>A	14.37:g.20692813G>A	ENSP00000319071:p.Met315Ile		Q6IF08	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.M315I	ENST00000315519.2	37	c.945	CCDS32033.1	14	.	.	.	.	.	.	.	.	.	.	G	7.228	0.598684	0.13939	.	.	ENSG00000176219	ENST00000315519	T	0.34859	1.34	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000005	T	0.28200	0.0696	N	0.25789	0.76	0.29126	N	0.879947	B	0.17038	0.02	B	0.14578	0.011	T	0.09862	-1.0655	10	0.35671	T	0.21	.	16.0522	0.80772	0.0:0.0:1.0:0.0	.	315	Q8NGC7	O11H6_HUMAN	I	315	ENSP00000319071:M315I	ENSP00000319071:M315I	M	+	3	0	OR11H6	19762653	0.042000	0.20092	1.000000	0.80357	0.471000	0.32888	-0.264000	0.08658	2.648000	0.89879	0.471000	0.43371	ATG	OR11H6	-	prints_GPCR_Rhodpsn		0.393	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H6	HGNC	protein_coding	OTTHUMT00000410676.1	G			20692813	+1	no_errors	ENST00000315519	ensembl	human	known	70_37	missense	SNP	1.000	A
OR51E1	143503	genome.wustl.edu	37	11	4674564	4674564	+	Missense_Mutation	SNP	C	C	T	rs575981363		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:4674564C>T	ENST00000396952.5	+	2	1458	c.808C>T	c.(808-810)Cgt>Tgt	p.R270C	OR51E1_ENST00000530215.1_Silent_p.G46G	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R269C(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAGCAAGCGGCGTGACTCTCC	0.493																																																	1	Substitution - Missense(1)	cervix(1)											195.0	182.0	186.0					11																	4674564		2201	4298	6499	SO:0001583	missense	143503			AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.808C>T	11.37:g.4674564C>T	ENSP00000380155:p.Arg270Cys		A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.R270C	ENST00000396952.5	37	c.808	CCDS31358.2	11	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692753	0.30052	.	.	ENSG00000180785	ENST00000396952	T	0.71934	-0.61	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	1.346740	0.04870	N	0.445795	T	0.60170	0.2248	N	0.24115	0.695	0.09310	N	0.999999	P	0.34837	0.472	B	0.28385	0.089	T	0.53563	-0.8421	10	0.56958	D	0.05	.	12.7235	0.57156	0.0:0.8343:0.1657:0.0	.	269	Q8TCB6	O51E1_HUMAN	C	270	ENSP00000380155:R270C	ENSP00000380155:R270C	R	+	1	0	OR51E1	4631140	0.000000	0.05858	0.696000	0.30242	0.835000	0.47333	0.649000	0.24843	2.650000	0.89964	0.655000	0.94253	CGT	OR51E1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.493	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51E1	HGNC	protein_coding	OTTHUMT00000347136.2	C	NM_152430		4674564	+1	no_errors	ENST00000396952	ensembl	human	known	70_37	missense	SNP	0.002	T
OR2D2	120776	genome.wustl.edu	37	11	6912833	6912833	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:6912833C>T	ENST00000299459.2	-	1	997	c.899G>A	c.(898-900)aGg>aAg	p.R300K		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	300					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)	p.R300K(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCTACTTTCCTCAGAGCTGC	0.458																																																	1	Substitution - Missense(1)	cervix(1)											72.0	65.0	68.0					11																	6912833		2201	4296	6497	SO:0001583	missense	120776			AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.899G>A	11.37:g.6912833C>T	ENSP00000299459:p.Arg300Lys		B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt	p.R300K	ENST00000299459.2	37	c.899	CCDS31416.1	11	.	.	.	.	.	.	.	.	.	.	c	0.456	-0.891429	0.02491	.	.	ENSG00000166368	ENST00000299459	T	0.35605	1.3	5.12	4.21	0.49690	.	0.240154	0.29653	N	0.011550	T	0.22898	0.0553	L	0.28556	0.865	0.19775	N	0.999956	B	0.12630	0.006	B	0.17433	0.018	T	0.20505	-1.0273	10	0.06236	T	0.91	-9.6661	11.4887	0.50369	0.0:0.9129:0.0:0.0871	.	300	Q9H210	OR2D2_HUMAN	K	300	ENSP00000299459:R300K	ENSP00000299459:R300K	R	-	2	0	OR2D2	6869409	0.001000	0.12720	0.998000	0.56505	0.286000	0.27126	0.344000	0.19962	1.532000	0.49169	0.645000	0.84053	AGG	OR2D2	-	NULL		0.458	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2D2	HGNC	protein_coding	OTTHUMT00000385986.1	C	NM_003700		6912833	-1	no_errors	ENST00000299459	ensembl	human	known	70_37	missense	SNP	0.968	T
OR6B2	389090	genome.wustl.edu	37	2	240969469	240969469	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:240969469G>C	ENST00000402971.2	-	1	437	c.378C>G	c.(376-378)atC>atG	p.I126M		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GCGGGTGGCAGATGGCCACGT	0.612																																																	0													8.0	8.0	8.0					2																	240969469		1786	4003	5789	SO:0001583	missense	389090				CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.378C>G	2.37:g.240969469G>C	ENSP00000384563:p.Ile126Met		B2RPR3|Q8NGW0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I126M	ENST00000402971.2	37	c.378	CCDS46559.1	2	.	.	.	.	.	.	.	.	.	.	g	11.26	1.586008	0.28268	.	.	ENSG00000182083	ENST00000402971	T	0.59083	0.29	4.29	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.142100	0.32055	N	0.006654	T	0.82185	0.4982	H	0.98466	4.24	0.31078	N	0.712231	D	0.76494	0.999	D	0.69824	0.966	T	0.82957	-0.0199	10	0.87932	D	0	.	9.5705	0.39425	0.0:0.0:0.4969:0.5031	.	126	Q6IFH4	OR6B2_HUMAN	M	126	ENSP00000384563:I126M	ENSP00000384563:I126M	I	-	3	3	OR6B2	240618142	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	1.022000	0.30052	1.112000	0.41740	-0.282000	0.10007	ATC	OR6B2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.612	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B2	HGNC	protein_coding	OTTHUMT00000326079.1	G	NM_001005853		240969469	-1	no_errors	ENST00000402971	ensembl	human	known	70_37	missense	SNP	1.000	C
OR8H2	390151	genome.wustl.edu	37	11	55872567	55872567	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:55872567G>T	ENST00000313503.1	+	1	49	c.49G>T	c.(49-51)Gga>Tga	p.G17*		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G17I(1)|p.G17*(1)|p.G17R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CATCCTTATGGGACTGACACT	0.423										HNSCC(53;0.14)																																							3	Substitution - Missense(2)|Substitution - Nonsense(1)	lung(2)|cervix(1)											233.0	222.0	226.0					11																	55872567		2201	4296	6497	SO:0001587	stop_gained	390151			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.49G>T	11.37:g.55872567G>T	ENSP00000323982:p.Gly17*		Q6IFC1	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G17*	ENST00000313503.1	37	c.49	CCDS31518.1	11	.	.	.	.	.	.	.	.	.	.	g	10.92	1.487179	0.26686	.	.	ENSG00000181767	ENST00000313503	.	.	.	3.74	3.74	0.42951	.	0.000000	0.49916	D	0.000133	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.105	0.81213	0.0:0.0:1.0:0.0	.	.	.	.	X	17	.	ENSP00000323982:G17X	G	+	1	0	OR8H2	55629143	1.000000	0.71417	0.050000	0.19076	0.027000	0.11550	4.458000	0.60095	2.032000	0.59987	0.440000	0.28878	GGA	OR8H2	-	NULL		0.423	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	HGNC	protein_coding	OTTHUMT00000391540.1	G	NM_001005200		55872567	+1	no_errors	ENST00000313503	ensembl	human	known	70_37	nonsense	SNP	0.935	T
OTUD4	54726	genome.wustl.edu	37	4	146058813	146058813	+	Missense_Mutation	SNP	T	T	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:146058813T>A	ENST00000447906.2	-	21	3301	c.3114A>T	c.(3112-3114)agA>agT	p.R1038S	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.R973S			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1038					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.R972S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACTGCTTGGATCTACCACTTC	0.418																																																	1	Substitution - Missense(1)	cervix(1)											193.0	196.0	195.0					4																	146058813		2203	4300	6503	SO:0001583	missense	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3114A>T	4.37:g.146058813T>A	ENSP00000395487:p.Arg1038Ser		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.R1038S	ENST00000447906.2	37	c.3114		4	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935512	0.52866	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.57107	0.46;0.42	6.17	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.58409	0.2120	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.61132	0.884;0.655	T	0.61729	-0.7003	10	0.87932	D	0	-13.7466	12.9168	0.58211	0.0:0.0:0.2554:0.7446	.	1038;1037	G3V0I6;Q01804	.;OTUD4_HUMAN	S	973;1038	ENSP00000409279:R973S;ENSP00000395487:R1038S	ENSP00000395487:R1038S	R	-	3	2	OTUD4	146278263	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.129000	0.31381	1.135000	0.42183	0.533000	0.62120	AGA	OTUD4	-	NULL		0.418	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	T	NM_017493		146058813	-1	no_errors	ENST00000447906	ensembl	human	known	70_37	missense	SNP	1.000	A
PKHD1L1	93035	genome.wustl.edu	37	8	110478922	110478922	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr8:110478922C>A	ENST00000378402.5	+	50	8633	c.8529C>A	c.(8527-8529)agC>agA	p.S2843R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2843					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTCAGTCAGCTTTCACCGTT	0.448										HNSCC(38;0.096)																																							0													145.0	134.0	137.0					8																	110478922		1955	4159	6114	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8529C>A	8.37:g.110478922C>A	ENSP00000367655:p.Ser2843Arg		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.S2843R	ENST00000378402.5	37	c.8529	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376573	0.24857	.	.	ENSG00000205038	ENST00000378402	D	0.85773	-2.03	6.16	3.38	0.38709	.	0.101584	0.64402	D	0.000003	T	0.64505	0.2604	N	0.04880	-0.145	0.26097	N	0.980877	B	0.18863	0.031	B	0.15484	0.013	T	0.50145	-0.8862	10	0.15066	T	0.55	.	6.4376	0.21831	0.0:0.6541:0.1328:0.2131	.	2843	Q86WI1	PKHL1_HUMAN	R	2843	ENSP00000367655:S2843R	ENSP00000367655:S2843R	S	+	3	2	PKHD1L1	110548098	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	0.916000	0.28651	0.917000	0.36895	0.650000	0.86243	AGC	PKHD1L1	-	NULL		0.448	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	C	NM_177531		110478922	+1	no_errors	ENST00000378402	ensembl	human	known	70_37	missense	SNP	1.000	A
PLCE1	51196	genome.wustl.edu	37	10	95849033	95849033	+	Intron	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr10:95849033C>T	ENST00000371380.3	+	2	1441				RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.S61L|PLCE1_ENST00000260766.3_Intron|PLCE1_ENST00000371375.1_Missense_Mutation_p.S61L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.S61L(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGCACGCTCTCAGCTGTCTTG	0.527																																																	1	Substitution - Missense(1)	cervix(1)											170.0	153.0	158.0					10																	95849033		1568	3582	5150	SO:0001627	intron_variant	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1207-42898C>T	10.37:g.95849033C>T			A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.S61L	ENST00000371380.3	37	c.182	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785810	0.49997	.	.	ENSG00000138193	ENST00000371385;ENST00000371375	T;T	0.25250	1.81;1.81	5.92	3.83	0.44106	.	.	.	.	.	T	0.17408	0.0418	.	.	.	0.23607	N	0.997302	B	0.02656	0.0	B	0.01281	0.0	T	0.05750	-1.0866	8	0.87932	D	0	.	4.8331	0.13451	0.0:0.6434:0.2128:0.1438	.	61	Q9P212-2	.	L	61	ENSP00000360438:S61L;ENSP00000360426:S61L	ENSP00000360426:S61L	S	+	2	0	PLCE1	95839023	0.981000	0.34729	1.000000	0.80357	0.990000	0.78478	1.546000	0.36179	2.810000	0.96702	0.650000	0.86243	TCA	PLCE1	-	NULL		0.527	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	C	NM_016341		95849033	+1	no_errors	ENST00000371375	ensembl	human	known	70_37	missense	SNP	0.993	T
PODXL2	50512	genome.wustl.edu	37	3	127381124	127381124	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr3:127381124C>G	ENST00000342480.6	+	4	1215	c.1176C>G	c.(1174-1176)atC>atG	p.I392M	AC023593.1_ENST00000408486.1_RNA	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	392					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)	p.I392M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						AAAACTACATCATTCTGAACA	0.552																																																	1	Substitution - Missense(1)	cervix(1)											92.0	76.0	81.0					3																	127381124		2203	4300	6503	SO:0001583	missense	50512			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1176C>G	3.37:g.127381124C>G	ENSP00000345359:p.Ile392Met		Q6UVY4|Q8WUV6	Missense_Mutation	SNP	pfam_CD34/Podocalyxin	p.I392M	ENST00000342480.6	37	c.1176	CCDS3044.1	3	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095724	0.56075	.	.	ENSG00000114631	ENST00000342480	T	0.33865	1.39	5.06	3.23	0.37069	.	0.275863	0.35067	N	0.003469	T	0.29355	0.0731	L	0.32530	0.975	0.32205	N	0.577247	P	0.50272	0.933	P	0.45577	0.486	T	0.41556	-0.9502	10	0.72032	D	0.01	-7.2772	7.829	0.29332	0.1332:0.7182:0.0:0.1486	.	392	Q9NZ53	PDXL2_HUMAN	M	392	ENSP00000345359:I392M	ENSP00000345359:I392M	I	+	3	3	PODXL2	128863814	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.887000	0.28254	1.253000	0.44018	0.591000	0.81541	ATC	PODXL2	-	NULL		0.552	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PODXL2	HGNC	protein_coding	OTTHUMT00000356638.1	C	NM_015720		127381124	+1	no_errors	ENST00000342480	ensembl	human	known	70_37	missense	SNP	1.000	G
PPAT	5471	genome.wustl.edu	37	4	57273828	57273828	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:57273828G>C	ENST00000264220.2	-	2	320	c.183C>G	c.(181-183)ttC>ttG	p.F61L	PPAT_ENST00000507648.1_5'UTR|AC068620.1_ENST00000598320.1_5'Flank	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	61	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)	p.F61L(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	TGTGTGATTTGAATGTTGGCA	0.428																																																	1	Substitution - Missense(1)	cervix(1)											151.0	124.0	133.0					4																	57273828		2203	4300	6503	SO:0001583	missense	5471				CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.183C>G	4.37:g.57273828G>C	ENSP00000264220:p.Phe61Leu			Missense_Mutation	SNP	pfam_GATase_dom,pfam_PRibTrfase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans	p.F61L	ENST00000264220.2	37	c.183	CCDS3505.1	4	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974471	0.34848	.	.	ENSG00000128059	ENST00000264220	T	0.74632	-0.86	5.26	3.5	0.40072	Glutamine amidotransferase, type II (1);	0.158705	0.56097	D	0.000023	T	0.62502	0.2433	L	0.35644	1.08	0.49389	D	0.999782	B	0.02656	0.0	B	0.08055	0.003	T	0.59632	-0.7418	10	0.48119	T	0.1	-13.8624	9.458	0.38767	0.2232:0.0:0.7768:0.0	.	61	Q06203	PUR1_HUMAN	L	61	ENSP00000264220:F61L	ENSP00000264220:F61L	F	-	3	2	PPAT	56968585	1.000000	0.71417	0.981000	0.43875	0.959000	0.62525	3.628000	0.54259	1.189000	0.43028	0.591000	0.81541	TTC	PPAT	-	pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans		0.428	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAT	HGNC	protein_coding	OTTHUMT00000250781.2	G	NM_002703		57273828	-1	no_errors	ENST00000264220	ensembl	human	known	70_37	missense	SNP	0.992	C
PPOX	5498	genome.wustl.edu	37	1	161139704	161139704	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:161139704G>T	ENST00000367999.4	+	9	1143	c.877G>T	c.(877-879)Gag>Tag	p.E293*	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Nonsense_Mutation_p.E293*|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000544598.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	293					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)	p.E293*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGTGCTCAGTGAGCTGCTCCC	0.547																																																	1	Substitution - Nonsense(1)	cervix(1)											82.0	76.0	78.0					1																	161139704		2203	4300	6503	SO:0001587	stop_gained	5498			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.877G>T	1.37:g.161139704G>T	ENSP00000356978:p.Glu293*		D3DVG0|Q5VTW8	Nonsense_Mutation	SNP	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	p.E293*	ENST00000367999.4	37	c.877	CCDS1221.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568791	0.86439	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935	.	.	.	5.32	-4.61	0.03380	.	0.777044	0.12823	N	0.436263	.	.	.	.	.	.	0.29077	N	0.882913	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-8.8511	6.3721	0.21487	0.2645:0.3195:0.416:0.0	.	.	.	.	X	293;293;260	.	ENSP00000343943:E293X	E	+	1	0	PPOX	159406328	0.000000	0.05858	0.492000	0.27490	0.629000	0.37895	-0.491000	0.06474	-0.825000	0.04290	-0.300000	0.09419	GAG	PPOX	-	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase		0.547	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPOX	HGNC	protein_coding	OTTHUMT00000082993.1	G	NM_000309		161139704	+1	no_errors	ENST00000352210	ensembl	human	known	70_37	nonsense	SNP	0.273	T
PPP2R1A	5518	genome.wustl.edu	37	19	52723005	52723005	+	Missense_Mutation	SNP	T	T	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr19:52723005T>A	ENST00000322088.6	+	10	1248	c.1190T>A	c.(1189-1191)aTc>aAc	p.I397N	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.I218N|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.I342N|CTD-2525I3.3_ENST00000593857.1_RNA	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	397	PP2A subunit B binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.I397N(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GTGATTGGCATCCGGCAGCTG	0.577			Mis		clear cell ovarian carcinoma																																			Dom?	yes		19	19q13.41	5518	"""protein phosphatase 2, regulatory subunit A, alpha"""		E	1	Substitution - Missense(1)	cervix(1)											94.0	83.0	87.0					19																	52723005		2203	4300	6503	SO:0001583	missense	5518				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1190T>A	19.37:g.52723005T>A	ENSP00000324804:p.Ile397Asn		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.I397N	ENST00000322088.6	37	c.1190	CCDS12849.1	19	.	.	.	.	.	.	.	.	.	.	T	17.43	3.388781	0.61956	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.33438	1.41;1.41	4.68	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000008	T	0.41971	0.1182	M	0.92077	3.27	0.58432	D	0.999998	P;B	0.35628	0.513;0.117	B;B	0.35039	0.194;0.01	T	0.48779	-0.9005	10	0.87932	D	0	-16.9618	9.0114	0.36144	0.1652:0.0:0.0:0.8348	.	342;397	F5H3X9;P30153	.;2AAA_HUMAN	N	387;317;397;342	ENSP00000324804:I397N;ENSP00000415067:I342N	ENSP00000324804:I397N	I	+	2	0	PPP2R1A	57414817	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.135000	0.77276	0.898000	0.36418	0.533000	0.62120	ATC	PPP2R1A	-	superfamily_ARM-type_fold,pfscan_HEAT_type_2		0.577	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	HGNC	protein_coding	OTTHUMT00000267967.2	T	NM_014225		52723005	+1	no_errors	ENST00000322088	ensembl	human	known	70_37	missense	SNP	1.000	A
PPP6R2	9701	genome.wustl.edu	37	22	50879329	50879329	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr22:50879329C>G	ENST00000216061.5	+	23	2844	c.2474C>G	c.(2473-2475)tCt>tGt	p.S825C	PPP6R2_ENST00000359139.3_Missense_Mutation_p.S792C|PPP6R2_ENST00000395741.3_Missense_Mutation_p.S792C|PPP6R2_ENST00000395744.3_Missense_Mutation_p.S791C			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	825	Poly-Ser.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.S791C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						AGTAGCTCCTCTGGGGGCTCC	0.677																																																	1	Substitution - Missense(1)	cervix(1)											56.0	62.0	60.0					22																	50879329		2203	4300	6503	SO:0001583	missense	9701			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.2474C>G	22.37:g.50879329C>G	ENSP00000216061:p.Ser825Cys		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.S825C	ENST00000216061.5	37	c.2474		22	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419061	0.62622	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	3.68	2.65	0.31530	.	0.828664	0.11486	N	0.559187	T	0.56949	0.2020	L	0.43923	1.385	0.44181	D	0.996999	D;D;D;D;D;D	0.89917	1.0;0.999;0.997;1.0;0.997;0.999	D;D;P;D;D;D	0.72625	0.956;0.939;0.817;0.978;0.912;0.959	T	0.56238	-0.8012	10	0.62326	D	0.03	-10.128	8.0757	0.30716	0.0:0.8745:0.0:0.1255	.	351;818;825;792;791;792	F2Z3M7;O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;.;PP6R2_HUMAN;.;.;.	C	792;792;791;825	ENSP00000352051:S792C;ENSP00000379090:S792C;ENSP00000379093:S791C;ENSP00000216061:S825C	ENSP00000216061:S825C	S	+	2	0	PPP6R2	49226195	1.000000	0.71417	0.868000	0.34077	0.735000	0.41995	3.116000	0.50399	1.578000	0.49821	0.491000	0.48974	TCT	PPP6R2	-	NULL		0.677	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1	C	NM_014678		50879329	+1	no_errors	ENST00000216061	ensembl	human	known	70_37	missense	SNP	0.997	G
PREB	10113	genome.wustl.edu	37	2	27354887	27354887	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:27354887G>C	ENST00000260643.2	-	7	1243	c.990C>G	c.(988-990)ttC>ttG	p.F330L	PREB_ENST00000416802.1_5'Flank|PREB_ENST00000406567.3_Missense_Mutation_p.F272L	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	330					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F330L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGAGAGAGAAAGCTATGT	0.547																																																	1	Substitution - Missense(1)	cervix(1)											127.0	126.0	126.0					2																	27354887		2203	4300	6503	SO:0001583	missense	10113				CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"""WD repeat domain containing"""	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.990C>G	2.37:g.27354887G>C	ENSP00000260643:p.Phe330Leu		Q53SZ8|Q9UH94	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F330L	ENST00000260643.2	37	c.990	CCDS1738.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.53|18.53	3.643253|3.643253	0.67244|0.67244	.|.	.|.	ENSG00000138073|ENSG00000138073	ENST00000260643;ENST00000406567;ENST00000546336|ENST00000456259;ENST00000430533	T;T|.	0.28255|.	1.62;5.08|.	5.75|5.75	3.62|3.62	0.41486|0.41486	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71256|0.71256	0.3318|0.3318	M|M	0.81942|0.81942	2.565|2.565	0.54753|0.54753	D|D	0.999988|0.999988	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.75020|.	0.985;0.985|.	T|T	0.71817|0.71817	-0.4478|-0.4478	10|5	0.40728|.	T|.	0.16|.	-19.065|-19.065	7.9249|7.9249	0.29867|0.29867	0.2704:0.0:0.7296:0.0|0.2704:0.0:0.7296:0.0	.|.	272;330|.	B5MC98;Q9HCU5|.	.;PREB_HUMAN|.	L|V	330;272;330|74;86	ENSP00000260643:F330L;ENSP00000384032:F272L|.	ENSP00000260643:F330L|.	F|L	-|-	3|1	2|0	PREB|PREB	27208391|27208391	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.992000|3.992000	0.56980|0.56980	1.420000|1.420000	0.47138|0.47138	0.655000|0.655000	0.94253|0.94253	TTC|CTC	PREB	-	superfamily_Quinonprotein_ADH-like		0.547	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREB	HGNC	protein_coding	OTTHUMT00000214195.1	G	NM_013388		27354887	-1	no_errors	ENST00000260643	ensembl	human	known	70_37	missense	SNP	1.000	C
PRKAG2	51422	genome.wustl.edu	37	7	151292526	151292526	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr7:151292526C>G	ENST00000287878.4	-	6	1273	c.769G>C	c.(769-771)Gaa>Caa	p.E257Q	PRKAG2_ENST00000392801.2_Missense_Mutation_p.E213Q|PRKAG2_ENST00000433631.2_Missense_Mutation_p.E132Q|PRKAG2_ENST00000418337.2_Missense_Mutation_p.E16Q|PRKAG2_ENST00000492843.1_Missense_Mutation_p.E133Q	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	257					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.E257Q(1)|p.E132Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	ACACCACTTTCTGAGTCTTCT	0.358																																																	2	Substitution - Missense(2)	cervix(2)											111.0	98.0	102.0					7																	151292526		2203	4300	6503	SO:0001583	missense	51422			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.769G>C	7.37:g.151292526C>G	ENSP00000287878:p.Glu257Gln		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core	p.E257Q	ENST00000287878.4	37	c.769	CCDS5928.1	7	.	.	.	.	.	.	.	.	.	.	C	15.67	2.900741	0.52227	.	.	ENSG00000106617	ENST00000418337;ENST00000287878;ENST00000492843;ENST00000433631;ENST00000392801;ENST00000476632	D;D;D;D;D;D	0.88975	-2.3;-2.05;-2.45;-2.42;-2.45;-1.67	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.86075	0.5846	L	0.47716	1.5	0.58432	D	0.999999	B;B	0.26635	0.104;0.155	B;B	0.29942	0.04;0.109	T	0.83312	-0.0022	10	0.33940	T	0.23	.	15.5013	0.75700	0.0:1.0:0.0:0.0	.	132;257	B7Z6X8;Q9UGJ0	.;AAKG2_HUMAN	Q	16;257;133;132;213;16	ENSP00000387386:E16Q;ENSP00000287878:E257Q;ENSP00000419577:E133Q;ENSP00000406544:E132Q;ENSP00000376549:E213Q;ENSP00000419493:E16Q	ENSP00000287878:E257Q	E	-	1	0	PRKAG2	150923459	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.356000	0.66052	2.236000	0.73375	0.557000	0.71058	GAA	PRKAG2	-	NULL		0.358	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAG2	HGNC	protein_coding	OTTHUMT00000348440.2	C	NM_016203		151292526	-1	no_errors	ENST00000287878	ensembl	human	known	70_37	missense	SNP	1.000	G
PRUNE2	158471	genome.wustl.edu	37	9	79229482	79229482	+	3'UTR	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr9:79229482C>G	ENST00000376718.3	-	0	9394				PRUNE2_ENST00000443509.2_3'UTR|PRUNE2_ENST00000428286.1_3'UTR|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000223609.6_3'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)						apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCAGCATGGCCAACTAAGGC	0.383																																																	0													112.0	98.0	102.0					9																	79229482		1568	3582	5150	SO:0001624	3_prime_UTR_variant	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.*4G>C	9.37:g.79229482C>G			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	RNA	SNP	-	NULL	ENST00000376718.3	37	NULL	CCDS47982.1	9																																																																																			PRUNE2	-	-		0.383	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	C	NM_138818		79229482	-1	no_errors	ENST00000464414	ensembl	human	known	70_37	rna	SNP	0.001	G
PSEN1	5663	genome.wustl.edu	37	14	73678482	73678482	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:73678482G>A	ENST00000324501.5	+	10	1233	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	PSEN1_ENST00000261970.3_Intron|PSEN1_ENST00000357710.4_Missense_Mutation_p.E317K|PSEN1_ENST00000557511.1_Intron|PSEN1_ENST00000394164.1_Missense_Mutation_p.E317K|PSEN1_ENST00000344094.3_Silent_p.Q351Q|PSEN1_ENST00000406768.1_Missense_Mutation_p.E229K	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	321					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)	p.E321*(1)|p.E321K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TGAAGGCACAGAAAGGGAGTC	0.418																																																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	cervix(1)|breast(1)											113.0	104.0	107.0					14																	73678482		2203	4300	6503	SO:0001583	missense	5663			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.961G>A	14.37:g.73678482G>A	ENSP00000326366:p.Glu321Lys		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A	p.E321K	ENST00000324501.5	37	c.961	CCDS9812.1	14	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177304	0.38413	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000394164;ENST00000406768	D;D;D;D	0.99541	-6.12;-6.12;-6.12;-6.12	5.41	4.48	0.54585	.	0.811019	0.11579	N	0.549919	D	0.98102	0.9374	L	0.29908	0.895	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.17722	0.015;0.019	D	0.95959	0.8960	10	0.13853	T	0.58	-0.0795	15.6963	0.77502	0.0:0.0:0.8629:0.1371	.	317;321	P49768-2;P49768	.;PSN1_HUMAN	K	321;317;317;229	ENSP00000326366:E321K;ENSP00000350342:E317K;ENSP00000377719:E317K;ENSP00000385948:E229K	ENSP00000326366:E321K	E	+	1	0	PSEN1	72748235	0.530000	0.26330	0.021000	0.16686	0.209000	0.24338	3.413000	0.52686	2.816000	0.96949	0.561000	0.74099	GAA	PSEN1	-	pfam_Peptidase_A22A,smart_Peptidase_A22		0.418	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSEN1	HGNC	protein_coding	OTTHUMT00000280500.2	G			73678482	+1	no_errors	ENST00000324501	ensembl	human	known	70_37	missense	SNP	0.034	A
PTDSS2	81490	genome.wustl.edu	37	11	489708	489708	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:489708G>C	ENST00000308020.5	+	10	1266	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	364					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)	p.E364Q(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GGCCATGCGTGAGATCTACGA	0.657																																																	1	Substitution - Missense(1)	cervix(1)											58.0	52.0	54.0					11																	489708		2200	4300	6500	SO:0001583	missense	81490			BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.1090G>C	11.37:g.489708G>C	ENSP00000308258:p.Glu364Gln			Missense_Mutation	SNP	pfam_PSS	p.E364Q	ENST00000308020.5	37	c.1090	CCDS7696.1	11	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620465	0.87460	.	.	ENSG00000174915	ENST00000308020	.	.	.	3.2	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	L	0.31664	0.95	0.58432	D	0.999999	D	0.69078	0.997	D	0.66196	0.942	T	0.61197	-0.7111	9	0.31617	T	0.26	-30.139	15.6881	0.77426	0.0:0.0:1.0:0.0	.	364	Q9BVG9	PTSS2_HUMAN	Q	364	.	ENSP00000308258:E364Q	E	+	1	0	PTDSS2	479708	1.000000	0.71417	0.979000	0.43373	0.940000	0.58332	7.369000	0.79578	2.114000	0.64651	0.561000	0.74099	GAG	PTDSS2	-	pfam_PSS		0.657	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTDSS2	HGNC	protein_coding	OTTHUMT00000239301.2	G			489708	+1	no_errors	ENST00000308020	ensembl	human	known	70_37	missense	SNP	1.000	C
PWP2	5822	genome.wustl.edu	37	21	45548023	45548023	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr21:45548023G>A	ENST00000291576.7	+	18	2478	c.2351G>A	c.(2350-2352)aGg>aAg	p.R784K	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	784					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)	p.R784K(1)		cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GCGGTGCCCAGGGGCGAGAGT	0.617																																																	1	Substitution - Missense(1)	cervix(1)											30.0	29.0	29.0					21																	45548023		2200	4300	6500	SO:0001583	missense	5822				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2351G>A	21.37:g.45548023G>A	ENSP00000291576:p.Arg784Lys		B2RAG8|Q96A77	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R784K	ENST00000291576.7	37	c.2351	CCDS33579.1	21	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698380	0.30142	.	.	ENSG00000241945	ENST00000291576	T	0.57907	0.37	3.92	-2.27	0.06846	.	1.114660	0.06456	N	0.728613	T	0.38161	0.1030	L	0.38175	1.15	0.09310	N	1	B	0.10296	0.003	B	0.19148	0.024	T	0.21999	-1.0229	10	0.30078	T	0.28	-14.0368	5.0668	0.14585	0.3441:0.2584:0.3975:0.0	.	784	Q15269	PWP2_HUMAN	K	784	ENSP00000291576:R784K	ENSP00000291576:R784K	R	+	2	0	PWP2	44372451	0.001000	0.12720	0.000000	0.03702	0.235000	0.25334	1.147000	0.31602	-0.633000	0.05545	0.563000	0.77884	AGG	PWP2	-	pfam_SSU_processome_Utp12		0.617	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	HGNC	protein_coding	OTTHUMT00000195736.3	G	NM_005049		45548023	+1	no_errors	ENST00000291576	ensembl	human	known	70_37	missense	SNP	0.000	A
PXDN	7837	genome.wustl.edu	37	2	1647149	1647149	+	Missense_Mutation	SNP	A	A	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:1647149A>T	ENST00000252804.4	-	19	3993	c.3943T>A	c.(3943-3945)Tgc>Agc	p.C1315S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1315					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.C1315S(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCTTCACAGCAGTCCTGCCAC	0.602																																																	1	Substitution - Missense(1)	cervix(1)											59.0	67.0	64.0					2																	1647149		2108	4212	6320	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3943T>A	2.37:g.1647149A>T	ENSP00000252804:p.Cys1315Ser		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.C1315S	ENST00000252804.4	37	c.3943	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	A	22.2	4.264654	0.80358	.	.	ENSG00000130508	ENST00000252804	T	0.60040	0.22	5.13	5.13	0.70059	.	0.217715	0.49305	D	0.000155	T	0.67581	0.2908	L	0.51914	1.62	0.80722	D	1	D	0.56746	0.977	P	0.59825	0.864	T	0.70579	-0.4833	10	0.62326	D	0.03	-47.4326	15.0	0.71464	1.0:0.0:0.0:0.0	.	1315	Q92626	PXDN_HUMAN	S	1315	ENSP00000252804:C1315S	ENSP00000252804:C1315S	C	-	1	0	PXDN	1626156	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.965000	0.93393	1.949000	0.56562	0.456000	0.33151	TGC	PXDN	-	superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.602	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	A	XM_056455		1647149	-1	no_errors	ENST00000252804	ensembl	human	known	70_37	missense	SNP	1.000	T
PYGM	5837	genome.wustl.edu	37	11	64525261	64525261	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:64525261A>G	ENST00000164139.3	-	5	1048	c.650T>C	c.(649-651)gTg>gCg	p.V217A	PYGM_ENST00000377432.3_Missense_Mutation_p.V129A	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	217					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.V217A(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGTGTGTCCACCCACTTGGC	0.612																																																	1	Substitution - Missense(1)	cervix(1)											60.0	55.0	57.0					11																	64525261		2201	4297	6498	SO:0001583	missense	5837				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.650T>C	11.37:g.64525261A>G	ENSP00000164139:p.Val217Ala		A0AVK1|A6NDY6	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.V217A	ENST00000164139.3	37	c.650	CCDS8079.1	11	.	.	.	.	.	.	.	.	.	.	A	17.61	3.433102	0.62844	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.92495	-3.05;-3.05	5.48	5.48	0.80851	.	0.000000	0.51477	D	0.000090	D	0.92303	0.7558	M	0.67625	2.065	0.58432	D	0.999996	B;B	0.21606	0.058;0.016	B;B	0.36244	0.22;0.082	D	0.90484	0.4462	10	0.56958	D	0.05	-20.7576	13.5207	0.61566	1.0:0.0:0.0:0.0	.	129;217	A6NDY6;P11217	.;PYGM_HUMAN	A	129;217;198	ENSP00000366650:V129A;ENSP00000164139:V217A	ENSP00000164139:V217A	V	-	2	0	PYGM	64281837	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.576000	0.82467	2.088000	0.63022	0.460000	0.39030	GTG	PYGM	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.612	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	HGNC	protein_coding	OTTHUMT00000143254.2	A	NM_005609		64525261	-1	no_errors	ENST00000164139	ensembl	human	known	70_37	missense	SNP	1.000	G
RALY	22913	genome.wustl.edu	37	20	32664864	32664865	+	In_Frame_Ins	INS	-	-	CAG	rs10649600|rs57852506	byFrequency	TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr20:32664864_32664865insCAG	ENST00000246194.3	+	8	1191_1192	c.689_690insCAG	c.(688-693)gccggc>gcCAGcggc	p.230_231AG>ASG	RALY_ENST00000375114.3_In_Frame_Ins_p.214_215AG>ASG	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	230	Epitope (recognized by BKRF1 antibodies).|Poly-Gly.			A -> AS (in Ref. 2; AAC28898). {ECO:0000305}.	mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GGAggtggcgccggcggcggcg	0.658																																																	0																																										SO:0001652	inframe_insertion	22913			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	Exception_encountered	20.37:g.32664864_32664865insCAG	ENSP00000246194:p.Ala230_Gly231insSer		Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	In_Frame_Ins	INS	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.231in_frame_insS	ENST00000246194.3	37	c.689_690	CCDS13230.1	20																																																																																			RALY	-	pirsf_hnRNP_C_Raly		0.658	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALY	HGNC	protein_coding	OTTHUMT00000078753.1	-			32664865	+1	no_errors	ENST00000246194	ensembl	human	known	70_37	in_frame_ins	INS	0.001:0.001	CAG
RECQL5	9400	genome.wustl.edu	37	17	73654526	73654526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr17:73654526C>T	ENST00000317905.5	-	7	1160	c.1001G>A	c.(1000-1002)tGg>tAg	p.W334*	RECQL5_ENST00000420326.2_Nonsense_Mutation_p.W334*|RECQL5_ENST00000340830.5_Nonsense_Mutation_p.W334*|RECQL5_ENST00000584999.1_Nonsense_Mutation_p.W334*|RECQL5_ENST00000423245.2_Nonsense_Mutation_p.W307*	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	334	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.W307*(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGCAATATTCCAATGGGCGAC	0.537								Other identified genes with known or suspected DNA repair function																																									1	Substitution - Nonsense(1)	cervix(1)											110.0	110.0	110.0					17																	73654526		2203	4300	6503	SO:0001587	stop_gained	9400			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1001G>A	17.37:g.73654526C>T	ENSP00000317636:p.Trp334*		Q9H0B1|Q9P1W7|Q9UNC8	Nonsense_Mutation	SNP	pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.W334*	ENST00000317905.5	37	c.1001	CCDS42380.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.793088	0.96952	.	.	ENSG00000108469	ENST00000423245;ENST00000317905;ENST00000420326;ENST00000340830	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6338	20.1346	0.98019	0.0:1.0:0.0:0.0	.	.	.	.	X	334	.	ENSP00000317636:W334X	W	-	2	0	RECQL5	71166121	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	7.818000	0.86416	2.765000	0.95021	0.655000	0.94253	TGG	RECQL5	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ		0.537	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	RECQL5	HGNC	protein_coding	OTTHUMT00000448207.1	C	NM_004259		73654526	-1	no_errors	ENST00000317905	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RMND1	55005	genome.wustl.edu	37	6	151766898	151766898	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr6:151766898A>G	ENST00000367303.4	-	2	171	c.49T>C	c.(49-51)Tca>Cca	p.S17P	RMND1_ENST00000336451.3_5'Flank|RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	17					translation (GO:0006412)	mitochondrion (GO:0005739)		p.S17P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TGTGCTTTTGATAATATATGA	0.383																																																	1	Substitution - Missense(1)	cervix(1)											41.0	37.0	38.0					6																	151766898		2203	4300	6503	SO:0001583	missense	55005			AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.49T>C	6.37:g.151766898A>G	ENSP00000356272:p.Ser17Pro		A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	pfam_DUF155	p.S17P	ENST00000367303.4	37	c.49	CCDS5232.1	6	.	.	.	.	.	.	.	.	.	.	A	12.04	1.818479	0.32145	.	.	ENSG00000155906	ENST00000367303	T	0.50001	0.76	5.57	-2.42	0.06542	.	0.965752	0.08477	N	0.940051	T	0.10594	0.0259	N	0.24115	0.695	0.09310	N	0.999998	B;B	0.11235	0.004;0.0	B;B	0.09377	0.004;0.001	T	0.26430	-1.0103	10	0.40728	T	0.16	-0.822	2.3449	0.04269	0.3493:0.3675:0.1719:0.1113	.	17;17	Q9NWS8-3;Q9NWS8	.;RMND1_HUMAN	P	17	ENSP00000356272:S17P	ENSP00000356272:S17P	S	-	1	0	RMND1	151808591	0.178000	0.23122	0.000000	0.03702	0.045000	0.14185	0.423000	0.21313	-0.197000	0.10350	0.460000	0.39030	TCA	RMND1	-	NULL		0.383	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RMND1	HGNC	protein_coding	OTTHUMT00000042718.2	A	NM_017909		151766898	-1	no_errors	ENST00000367303	ensembl	human	known	70_37	missense	SNP	0.000	G
RGS17	26575	genome.wustl.edu	37	6	153332762	153332762	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr6:153332762G>C	ENST00000367225.2	-	4	604	c.580C>G	c.(580-582)Caa>Gaa	p.Q194E	RGS17_ENST00000206262.1_Missense_Mutation_p.Q194E			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	194	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.Q194E(1)		cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		TTATAAATTTGAGAGTTCAAA	0.338																																					Esophageal Squamous(78;500 1236 6775 24364 49058)												1	Substitution - Missense(1)	cervix(1)											52.0	54.0	53.0					6																	153332762		2203	4300	6503	SO:0001583	missense	26575			AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.580C>G	6.37:g.153332762G>C	ENSP00000356194:p.Gln194Glu		Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Q194E	ENST00000367225.2	37	c.580	CCDS5244.1	6	.	.	.	.	.	.	.	.	.	.	G	1.941	-0.443628	0.04604	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.01613	4.73;4.73	5.19	5.19	0.71726	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.179047	0.51477	D	0.000083	T	0.00384	0.0012	N	0.00996	-1.065	0.48632	D	0.999682	B	0.11235	0.004	B	0.13407	0.009	T	0.53816	-0.8385	10	0.08599	T	0.76	-15.0042	19.1288	0.93396	0.0:0.0:1.0:0.0	.	194	Q9UGC6	RGS17_HUMAN	E	194	ENSP00000356194:Q194E;ENSP00000206262:Q194E	ENSP00000206262:Q194E	Q	-	1	0	RGS17	153374455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.845000	0.48254	2.585000	0.87301	0.551000	0.68910	CAA	RGS17	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.338	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS17	HGNC	protein_coding	OTTHUMT00000042773.2	G			153332762	-1	no_errors	ENST00000206262	ensembl	human	known	70_37	missense	SNP	1.000	C
ROCK2	9475	genome.wustl.edu	37	2	11332586	11332586	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:11332586G>A	ENST00000315872.6	-	31	4388	c.3940C>T	c.(3940-3942)Cct>Tct	p.P1314S	ROCK2_ENST00000401753.1_Missense_Mutation_p.P1071S	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1314	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)	p.P1314S(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CCTTTGCAAGGTGCTATAATC	0.353																																																	2	Substitution - Missense(2)	cervix(2)											104.0	98.0	100.0					2																	11332586		1866	4101	5967	SO:0001583	missense	9475			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3940C>T	2.37:g.11332586G>A	ENSP00000317985:p.Pro1314Ser		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.P1314S	ENST00000315872.6	37	c.3940	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892291	0.91889	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.74632	-0.86;-0.86	5.52	5.52	0.82312	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.87939	0.6304	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89026	0.3438	10	0.72032	D	0.01	.	19.4403	0.94817	0.0:0.0:1.0:0.0	.	1314	O75116	ROCK2_HUMAN	S	1314;1071;672	ENSP00000317985:P1314S;ENSP00000385509:P1071S	ENSP00000317985:P1314S	P	-	1	0	ROCK2	11250037	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	9.864000	0.99589	2.605000	0.88082	0.591000	0.81541	CCT	ROCK2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.353	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	HGNC	protein_coding	OTTHUMT00000313886.3	G			11332586	-1	no_errors	ENST00000315872	ensembl	human	known	70_37	missense	SNP	1.000	A
RPS6KA1	6195	genome.wustl.edu	37	1	26898762	26898763	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:26898762_26898763delAC	ENST00000374168.2	+	20	2079_2080	c.1925_1926delAC	c.(1924-1926)aacfs	p.N642fs	RPS6KA1_ENST00000374166.4_Frame_Shift_Del_p.N631fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Del_p.N550fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Del_p.N550fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Del_p.N651fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Del_p.N626fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	642	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GGAAATTGGAACACAGTTTCAG	0.535																																																	0																																										SO:0001589	frameshift_variant	6195			BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1925_1926delAC	1.37:g.26898764_26898765delAC	ENSP00000363283:p.Asn642fs		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T652fs	ENST00000374168.2	37	c.1952_1953	CCDS284.1	1																																																																																			RPS6KA1	-	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_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.535	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA1	HGNC	protein_coding	OTTHUMT00000011431.1	AC	NM_002953		26898763	+1	no_errors	ENST00000531382	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-
SEC24D	9871	genome.wustl.edu	37	4	119736623	119736623	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:119736623C>A	ENST00000280551.6	-	5	894	c.656G>T	c.(655-657)gGa>gTa	p.G219V	SEC24D_ENST00000379735.5_Missense_Mutation_p.G219V|SEC24D_ENST00000419654.2_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	219	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.G219V(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CGGAGGATATCCAGCACCCAA	0.557																																																	1	Substitution - Missense(1)	cervix(1)											79.0	76.0	77.0					4																	119736623		2203	4300	6503	SO:0001583	missense	9871			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.656G>T	4.37:g.119736623C>A	ENSP00000280551:p.Gly219Val		Q8IYI7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.G219V	ENST00000280551.6	37	c.656	CCDS3710.1	4	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093159	0.56075	.	.	ENSG00000150961	ENST00000280551;ENST00000379735	T;T	0.24723	1.84;1.84	5.71	5.71	0.89125	.	0.050011	0.85682	D	0.000000	T	0.53302	0.1788	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.984	T	0.47636	-0.9102	10	0.30078	T	0.28	-7.2849	16.7742	0.85546	0.0:1.0:0.0:0.0	.	219;219	O94855-2;O94855	.;SC24D_HUMAN	V	219	ENSP00000280551:G219V;ENSP00000369059:G219V	ENSP00000280551:G219V	G	-	2	0	SEC24D	119956071	0.996000	0.38824	0.815000	0.32552	0.326000	0.28443	2.926000	0.48892	2.701000	0.92244	0.655000	0.94253	GGA	SEC24D	-	NULL		0.557	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24D	HGNC	protein_coding	OTTHUMT00000256514.4	C			119736623	-1	no_errors	ENST00000379735	ensembl	human	known	70_37	missense	SNP	1.000	A
SEMA3A	10371	genome.wustl.edu	37	7	83610701	83610701	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr7:83610701C>T	ENST00000265362.4	-	14	1902	c.1588G>A	c.(1588-1590)Gcc>Acc	p.A530T	SEMA3A_ENST00000436949.1_Missense_Mutation_p.A530T	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	530					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.A530T(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GGGTCTCGGGCGAGGCAACAC	0.463																																																	1	Substitution - Missense(1)	cervix(1)											78.0	71.0	74.0					7																	83610701		2203	4300	6503	SO:0001583	missense	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1588G>A	7.37:g.83610701C>T	ENSP00000265362:p.Ala530Thr			Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.A530T	ENST00000265362.4	37	c.1588	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.280421	0.95489	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.27402	1.67;1.67	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	M	0.86805	2.84	0.80722	D	1	D	0.76494	0.999	P	0.58520	0.84	T	0.66464	-0.5917	10	0.87932	D	0	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	530	Q14563	SEM3A_HUMAN	T	530	ENSP00000265362:A530T;ENSP00000415260:A530T	ENSP00000265362:A530T	A	-	1	0	SEMA3A	83448637	1.000000	0.71417	0.834000	0.33040	0.499000	0.33736	7.770000	0.85390	2.687000	0.91594	0.655000	0.94253	GCC	SEMA3A	-	superfamily_Plexin-like_fold,smart_Plexin-like		0.463	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	C	NM_006080		83610701	-1	no_errors	ENST00000265362	ensembl	human	known	70_37	missense	SNP	1.000	T
SEMA4A	64218	genome.wustl.edu	37	1	156132829	156132829	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:156132829G>A	ENST00000368285.3	+	10	1345	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	SEMA4A_ENST00000368282.1_Missense_Mutation_p.E360K|SEMA4A_ENST00000368286.2_Missense_Mutation_p.E228K|SEMA4A_ENST00000355014.2_Missense_Mutation_p.E360K|SEMA4A_ENST00000368284.1_Missense_Mutation_p.E228K|SEMA4A_ENST00000487358.1_3'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	360	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E360K(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GTTGAACAAAGAAACTTCACG	0.522																																																	1	Substitution - Missense(1)	cervix(1)											101.0	100.0	100.0					1																	156132829		2203	4300	6503	SO:0001583	missense	64218			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1078G>A	1.37:g.156132829G>A	ENSP00000357268:p.Glu360Lys		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.E360K	ENST00000368285.3	37	c.1078	CCDS1132.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.469468	0.96274	.	.	ENSG00000196189	ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.161988	0.52532	D	0.000061	T	0.25306	0.0615	M	0.74881	2.28	0.58432	D	0.999994	D;D	0.71674	0.998;0.998	D;D	0.72338	0.977;0.977	T	0.00824	-1.1551	10	0.51188	T	0.08	.	16.9524	0.86249	0.0:0.0:1.0:0.0	.	228;360	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	K	360;360;228;322;322;228;360	ENSP00000347117:E360K;ENSP00000357268:E360K;ENSP00000357267:E228K;ENSP00000357269:E228K;ENSP00000357265:E360K	ENSP00000347117:E360K	E	+	1	0	SEMA4A	154399453	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.642000	0.67888	2.581000	0.87130	0.551000	0.68910	GAA	SEMA4A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.522	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4A	HGNC	protein_coding	OTTHUMT00000039484.2	G	NM_022367		156132829	+1	no_errors	ENST00000355014	ensembl	human	known	70_37	missense	SNP	1.000	A
SF3B2	10992	genome.wustl.edu	37	11	65825538	65825538	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:65825538C>T	ENST00000322535.6	+	8	840	c.791C>T	c.(790-792)tCt>tTt	p.S264F	SF3B2_ENST00000528302.1_Missense_Mutation_p.S247F	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	264					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.S264F(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GATGACCCCTCTGTGGGCCCC	0.493																																																	1	Substitution - Missense(1)	cervix(1)											22.0	21.0	21.0					11																	65825538		2201	4295	6496	SO:0001583	missense	10992			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.791C>T	11.37:g.65825538C>T	ENSP00000318861:p.Ser264Phe		A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd	p.S264F	ENST00000322535.6	37	c.791	CCDS31612.1	11	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737871	0.49045	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000533595;ENST00000524627;ENST00000530322	.	.	.	5.8	4.84	0.62591	.	0.266015	0.43110	D	0.000603	T	0.40119	0.1104	L	0.34521	1.04	0.42968	D	0.994424	P	0.46512	0.879	B	0.37198	0.243	T	0.48445	-0.9035	9	0.72032	D	0.01	-25.7502	13.6801	0.62479	0.0:0.8319:0.1681:0.0	.	264	Q13435	SF3B2_HUMAN	F	247;264;262;263;258	.	ENSP00000318861:S264F	S	+	2	0	SF3B2	65582114	0.995000	0.38212	1.000000	0.80357	0.967000	0.64934	2.033000	0.41136	2.758000	0.94735	0.561000	0.74099	TCT	SF3B2	-	NULL		0.493	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2	C			65825538	+1	no_errors	ENST00000322535	ensembl	human	known	70_37	missense	SNP	1.000	T
SIGLEC10	89790	genome.wustl.edu	37	19	51920033	51920033	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr19:51920033G>A	ENST00000339313.5	-	3	709	c.593C>T	c.(592-594)tCa>tTa	p.S198L	SIGLEC10_ENST00000356298.5_Missense_Mutation_p.S198L|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000441969.3_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000432469.2_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Intron|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.S198L|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.S150L|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.S198L			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	198	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.S198L(1)|p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCTGAGCACTGAGAAGTGGGA	0.592																																																	2	Substitution - Missense(1)|Unknown(1)	cervix(2)											136.0	114.0	121.0					19																	51920033		2203	4300	6503	SO:0001583	missense	89790			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.593C>T	19.37:g.51920033G>A	ENSP00000345243:p.Ser198Leu		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S198L	ENST00000339313.5	37	c.593	CCDS12832.1	19	.	.	.	.	.	.	.	.	.	.	.	21.9	4.217870	0.79352	.	.	ENSG00000142512	ENST00000353836;ENST00000356298;ENST00000525998;ENST00000436984;ENST00000339313;ENST00000530476	D;D;D;D;D;D	0.88509	-1.86;-1.86;-1.86;-2.39;-1.86;-1.86	4.69	4.69	0.59074	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.144262	0.32444	N	0.006100	D	0.95137	0.8424	M	0.91663	3.23	0.21147	N	0.999779	D;D;D;D	0.89917	0.984;1.0;0.997;0.996	P;D;D;P	0.87578	0.806;0.998;0.939;0.905	D	0.89341	0.3654	10	0.59425	D	0.04	.	13.0865	0.59144	0.0:0.0:1.0:0.0	.	150;198;198;198	C9JM10;E9PL79;Q96LC7-2;Q96LC7	.;.;.;SIG10_HUMAN	L	198;198;198;150;198;165	ENSP00000342389:S198L;ENSP00000348646:S198L;ENSP00000431444:S198L;ENSP00000414324:S150L;ENSP00000345243:S198L;ENSP00000433838:S165L	ENSP00000345243:S198L	S	-	2	0	SIGLEC10	56611845	0.988000	0.35896	0.045000	0.18777	0.179000	0.23085	3.135000	0.50546	2.152000	0.67230	0.313000	0.20887	TCA	SIGLEC10	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like		0.592	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC10	HGNC	protein_coding	OTTHUMT00000384620.2	G	NM_033130		51920033	-1	no_errors	ENST00000339313	ensembl	human	known	70_37	missense	SNP	0.168	A
SIGLEC14	100049587	genome.wustl.edu	37	19	52149138	52149138	+	Silent	SNP	G	G	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr19:52149138G>T	ENST00000360844.6	-	3	638	c.597C>A	c.(595-597)acC>acA	p.T199T	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	199	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.T199T(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGGGGGTGAGGGTGAGCTCCG	0.627																																																	2	Substitution - coding silent(2)	cervix(2)											26.0	27.0	27.0					19																	52149138		2054	4174	6228	SO:0001819	synonymous_variant	100049587			AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.597C>A	19.37:g.52149138G>T			Q6UXG0	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T199	ENST00000360844.6	37	c.597	CCDS42604.1	19																																																																																			SIGLEC14	-	pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like		0.627	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC14	HGNC	protein_coding	OTTHUMT00000466899.2	G	NM_001098612		52149138	-1	no_errors	ENST00000360844	ensembl	human	known	70_37	silent	SNP	0.011	T
SLC22A13	9390	genome.wustl.edu	37	3	38316945	38316945	+	Silent	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr3:38316945C>G	ENST00000311856.4	+	5	940	c.891C>G	c.(889-891)gtC>gtG	p.V297V	SLC22A13_ENST00000450935.2_Missense_Mutation_p.Q205E	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	297					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)	p.V297V(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		CGGCCTCGGTCAATAGGCGGA	0.612																																																	1	Substitution - coding silent(1)	cervix(1)											65.0	65.0	65.0					3																	38316945		2203	4300	6503	SO:0001819	synonymous_variant	9390			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.891C>G	3.37:g.38316945C>G			B2RCV9|Q8IYG1	Missense_Mutation	SNP	NULL	p.Q205E	ENST00000311856.4	37	c.613	CCDS2676.1	3	.	.	.	.	.	.	.	.	.	.	C	10.09	1.253773	0.22965	.	.	ENSG00000172940	ENST00000450935	T	0.52295	0.67	4.84	1.74	0.24563	.	.	.	.	.	T	0.50411	0.1614	.	.	.	0.20403	N	0.999903	.	.	.	.	.	.	T	0.46582	-0.9181	6	0.87932	D	0	.	10.4113	0.44294	0.1316:0.4606:0.4078:0.0	.	.	.	.	E	205	ENSP00000406929:Q205E	ENSP00000395106:Q231E	Q	+	1	0	SLC22A13	38291949	0.001000	0.12720	0.340000	0.25575	0.304000	0.27724	-0.504000	0.06375	0.522000	0.28464	0.655000	0.94253	CAA	SLC22A13	-	NULL		0.612	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A13	HGNC	protein_coding	OTTHUMT00000253746.2	C	NM_004256		38316945	+1	no_errors	ENST00000450935	ensembl	human	known	70_37	missense	SNP	0.527	G
SLC26A8	116369	genome.wustl.edu	37	6	35927343	35927343	+	Missense_Mutation	SNP	T	T	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr6:35927343T>A	ENST00000490799.1	-	16	2110	c.1757A>T	c.(1756-1758)aAa>aTa	p.K586I	SLC26A8_ENST00000394602.2_Missense_Mutation_p.K481I|SLC26A8_ENST00000355574.2_Missense_Mutation_p.K586I	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.K586I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TTCTTCTTCTTTAAGAGGCAC	0.438																																																	1	Substitution - Missense(1)	cervix(1)											91.0	94.0	93.0					6																	35927343		2203	4300	6503	SO:0001583	missense	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1757A>T	6.37:g.35927343T>A	ENSP00000417638:p.Lys586Ile			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.K586I	ENST00000490799.1	37	c.1757	CCDS4813.1	6	.	.	.	.	.	.	.	.	.	.	T	11.56	1.674692	0.29693	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.95482	-3.41;-3.72;-3.41	5.49	-1.11	0.09840	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.984735	0.08313	N	0.965140	D	0.86351	0.5912	L	0.46157	1.445	0.23138	N	0.998237	P;P;P	0.43352	0.642;0.744;0.804	B;B;B	0.42738	0.321;0.341;0.396	T	0.79376	-0.1829	10	0.19590	T	0.45	.	7.1219	0.25450	0.0:0.1821:0.5459:0.272	.	586;481;168	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	I	586;481;586	ENSP00000417638:K586I;ENSP00000378100:K481I;ENSP00000347778:K586I	ENSP00000347778:K586I	K	-	2	0	SLC26A8	36035321	0.038000	0.19896	0.879000	0.34478	0.143000	0.21401	0.329000	0.19698	-0.142000	0.11354	-0.256000	0.11100	AAA	SLC26A8	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom		0.438	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	HGNC	protein_coding	OTTHUMT00000040325.2	T			35927343	-1	no_errors	ENST00000355574	ensembl	human	known	70_37	missense	SNP	0.731	A
SLC29A2	3177	genome.wustl.edu	37	11	66130959	66130959	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:66130959A>G	ENST00000357440.2	-	12	1547	c.1319T>C	c.(1318-1320)cTg>cCg	p.L440P	RP11-867G23.8_ENST00000580881.1_Intron|SLC29A2_ENST00000546034.1_Missense_Mutation_p.L440P|RP11-867G23.8_ENST00000531602.1_Missense_Mutation_p.R70G|SLC29A2_ENST00000544554.1_Missense_Mutation_p.L440P|SLC29A2_ENST00000311161.7_3'UTR	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	440					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGAAAGTCCCAGGGCCAGGAA	0.612																																																	0													69.0	64.0	66.0					11																	66130959		2200	4295	6495	SO:0001583	missense	3177			X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"""Solute carriers"""	11004	protein-coding gene	gene with protein product		602110	"""solute carrier family 29 (nucleoside transporters), member 2"""	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.1319T>C	11.37:g.66130959A>G	ENSP00000350024:p.Leu440Pro		B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.L440P	ENST00000357440.2	37	c.1319	CCDS8137.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.7|22.7	4.322805|4.322805	0.81580|0.81580	.|.	.|.	ENSG00000174669|ENSG00000255468	ENST00000357440;ENST00000544554;ENST00000546034|ENST00000531602	D;D;D|.	0.84442|.	-1.85;-1.85;-1.85|.	4.57|4.57	4.57|4.57	0.56435|0.56435	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.76090|0.76090	0.3939|0.3939	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.80183|0.80183	-0.1488|-0.1488	10|6	0.39692|0.87932	T|D	0.17|0	-3.9536|-3.9536	11.9637|11.9637	0.53023|0.53023	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	440|.	Q14542|.	S29A2_HUMAN|.	P|G	440|70	ENSP00000350024:L440P;ENSP00000439456:L440P;ENSP00000440329:L440P|.	ENSP00000350024:L440P|ENSP00000435142:R70G	L|R	-|+	2|1	0|2	SLC29A2|RP11-867G23.8	65887535|65887535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	8.503000|8.503000	0.90509|0.90509	1.939000|1.939000	0.56221|0.56221	0.477000|0.477000	0.44152|0.44152	CTG|AGG	SLC29A2	-	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt		0.612	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC29A2	HGNC	protein_coding	OTTHUMT00000402093.1	A	NM_001532		66130959	-1	no_errors	ENST00000357440	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC29A4	222962	genome.wustl.edu	37	7	5340136	5340136	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr7:5340136C>G	ENST00000396872.3	+	10	1454	c.1293C>G	c.(1291-1293)ttC>ttG	p.F431L	SLC29A4_ENST00000297195.4_Missense_Mutation_p.F431L|SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000406453.3_Missense_Mutation_p.F417L			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	431					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.F431L(1)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	TCCCCCTCTTCATCCTGTGCG	0.667																																																	1	Substitution - Missense(1)	cervix(1)											134.0	123.0	127.0					7																	5340136		2203	4299	6502	SO:0001583	missense	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1293C>G	7.37:g.5340136C>G	ENSP00000380081:p.Phe431Leu		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	p.F431L	ENST00000396872.3	37	c.1293	CCDS5340.1	7	.	.	.	.	.	.	.	.	.	.	.	12.78	2.039720	0.35989	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	T;T;T	0.68479	-0.33;-0.33;-0.33	4.42	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.75752	0.3892	L	0.52126	1.63	0.50039	D	0.999841	D;B	0.71674	0.998;0.17	D;B	0.76071	0.987;0.216	T	0.73097	-0.4090	10	0.27082	T	0.32	-35.634	15.2091	0.73206	0.0:1.0:0.0:0.0	.	417;431	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	L	431;431;417	ENSP00000380081:F431L;ENSP00000297195:F431L;ENSP00000385845:F417L	ENSP00000297195:F431L	F	+	3	2	SLC29A4	5306662	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.063000	0.41423	2.010000	0.58986	0.561000	0.74099	TTC	SLC29A4	-	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt		0.667	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	HGNC	protein_coding	OTTHUMT00000060118.6	C	NM_153247		5340136	+1	no_errors	ENST00000297195	ensembl	human	known	70_37	missense	SNP	1.000	G
SON	6651	genome.wustl.edu	37	21	34924700	34924700	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr21:34924700G>A	ENST00000356577.4	+	3	3638	c.3163G>A	c.(3163-3165)Gag>Aag	p.E1055K	SON_ENST00000290239.6_Missense_Mutation_p.E1055K|SON_ENST00000381679.4_Missense_Mutation_p.E1055K|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.E1055K	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1055	14 X 6 AA repeats of [ED]-R-S-M-M-S.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E1055K(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CCCTATGGCTGAGCGCTCTAT	0.517																																																	2	Substitution - Missense(2)	cervix(2)											111.0	104.0	106.0					21																	34924700		2203	4300	6503	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3163G>A	21.37:g.34924700G>A	ENSP00000348984:p.Glu1055Lys		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd	p.E1055K	ENST00000356577.4	37	c.3163	CCDS13629.1	21	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447624	0.63178	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	6.06	6.06	0.98353	.	0.000000	0.53938	D	0.000046	T	0.53158	0.1779	L	0.56769	1.78	0.37061	D	0.898062	D;D;P;D;D	0.76494	0.999;0.999;0.884;0.999;0.999	D;D;P;D;D	0.83275	0.996;0.991;0.636;0.996;0.996	T	0.49093	-0.8975	10	0.34782	T	0.22	.	18.1147	0.89549	0.0:0.0:1.0:0.0	.	1055;1055;736;1055;1055	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	K	1055	ENSP00000348984:E1055K;ENSP00000290239:E1055K;ENSP00000300278:E1055K;ENSP00000371095:E1055K	ENSP00000290239:E1055K	E	+	1	0	SON	33846570	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.735000	0.47377	2.882000	0.98803	0.655000	0.94253	GAG	SON	-	NULL		0.517	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	G	NM_138927		34924700	+1	no_errors	ENST00000356577	ensembl	human	known	70_37	missense	SNP	1.000	A
SPOPL	339745	genome.wustl.edu	37	2	139308479	139308479	+	Silent	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:139308479G>A	ENST00000280098.4	+	4	586	c.207G>A	c.(205-207)ctG>ctA	p.L69L		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	69	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)		p.L69L(2)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TTAGGTGCCTGAGGGTAAACC	0.383																																																	2	Substitution - coding silent(2)	cervix(1)|breast(1)											78.0	82.0	81.0					2																	139308479		2203	4299	6502	SO:0001819	synonymous_variant	339745				CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.207G>A	2.37:g.139308479G>A				Silent	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.L69	ENST00000280098.4	37	c.207	CCDS33298.1	2																																																																																			SPOPL	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH		0.383	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOPL	HGNC	protein_coding	OTTHUMT00000331897.1	G			139308479	+1	no_errors	ENST00000280098	ensembl	human	known	70_37	silent	SNP	1.000	A
STAM2	10254	genome.wustl.edu	37	2	153001276	153001276	+	Intron	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:153001276C>G	ENST00000263904.4	-	6	867				STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2						endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		tggtctcgatctcttgacctc	0.542																																																	0																																										SO:0001627	intron_variant	10254			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.517+125G>C	2.37:g.153001276C>G			A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	RNA	SNP	-	NULL	ENST00000263904.4	37	NULL	CCDS2196.1	2																																																																																			STAM2	-	-		0.542	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM2	HGNC	protein_coding	OTTHUMT00000254835.2	C	NM_005843		153001276	-1	no_errors	ENST00000465460	ensembl	human	known	70_37	rna	SNP	0.033	G
STK17B	9262	genome.wustl.edu	37	2	197004445	197004445	+	Silent	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:197004445G>A	ENST00000263955.4	-	7	1021	c.735C>T	c.(733-735)ctC>ctT	p.L245L	STK17B_ENST00000409228.1_Silent_p.L245L	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	245	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L245L(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GAGAAATATTGAGGTATGTTT	0.348																																																	1	Substitution - coding silent(1)	cervix(1)											107.0	109.0	108.0					2																	197004445		2203	4295	6498	SO:0001819	synonymous_variant	9262			AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.735C>T	2.37:g.197004445G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L245	ENST00000263955.4	37	c.735	CCDS2315.1	2																																																																																			STK17B	-	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		0.348	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK17B	HGNC	protein_coding	OTTHUMT00000256092.2	G			197004445	-1	no_errors	ENST00000263955	ensembl	human	known	70_37	silent	SNP	0.998	A
SUV39H2	79723	genome.wustl.edu	37	10	14944426	14944426	+	Missense_Mutation	SNP	A	A	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr10:14944426A>T	ENST00000354919.6	+	6	1148	c.1148A>T	c.(1147-1149)gAt>gTt	p.D383V	DCLRE1C_ENST00000378289.4_Intron|SUV39H2_ENST00000313519.5_Missense_Mutation_p.D323V|SUV39H2_ENST00000378325.3_Missense_Mutation_p.D203V	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	383			D -> H (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.D323V(1)|p.D383V(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						ATATCTTCAGATTCTATTGAC	0.343																																																	2	Substitution - Missense(2)	cervix(2)											62.0	57.0	59.0					10																	14944426		2203	4300	6503	SO:0001583	missense	79723			AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.1148A>T	10.37:g.14944426A>T	ENSP00000346997:p.Asp383Val		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow	p.D383V	ENST00000354919.6	37	c.1148	CCDS53494.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.99|16.99	3.273458|3.273458	0.59649|0.59649	.|.	.|.	ENSG00000152455|ENSG00000152455	ENST00000433779;ENST00000378325;ENST00000354919;ENST00000313519|ENST00000358298	D;D;D;D|.	0.98474|.	-4.82;-4.95;-3.67;-3.64|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.281475|.	0.35124|.	N|.	0.003427|.	T|T	0.68091|0.68091	0.2963|0.2963	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	B;B|.	0.12013|.	0.002;0.005|.	B;B|.	0.17098|.	0.007;0.017|.	T|T	0.65619|0.65619	-0.6124|-0.6124	10|5	0.33940|.	T|.	0.23|.	.|.	15.507|15.507	0.75748|0.75748	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	383;203|.	Q9H5I1;Q9H5I1-3|.	SUV92_HUMAN;.|.	V|F	143;203;383;323|149	ENSP00000388968:D143V;ENSP00000367576:D203V;ENSP00000346997:D383V;ENSP00000319208:D323V|.	ENSP00000319208:D323V|.	D|I	+|+	2|1	0|0	SUV39H2|SUV39H2	14984432|14984432	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	6.873000|6.873000	0.75541|0.75541	2.313000|2.313000	0.78055|0.78055	0.455000|0.455000	0.32223|0.32223	GAT|ATT	SUV39H2	-	pirsf_Histone_H3-K9_MeTrfase		0.343	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV39H2	HGNC	protein_coding	OTTHUMT00000046947.2	A	NM_024670		14944426	+1	no_errors	ENST00000354919	ensembl	human	known	70_37	missense	SNP	1.000	T
SYNE2	23224	genome.wustl.edu	37	14	64596563	64596563	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:64596563G>A	ENST00000344113.4	+	75	14295	c.14083G>A	c.(14083-14085)Gaa>Aaa	p.E4695K	SYNE2_ENST00000357395.3_Missense_Mutation_p.E1080K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1080K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4612K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4695K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E1329K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4695					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.E4695K(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACTAAGAGATGAAGGGGAGAG	0.443																																																	1	Substitution - Missense(1)	cervix(1)											137.0	136.0	136.0					14																	64596563		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14083G>A	14.37:g.64596563G>A	ENSP00000341781:p.Glu4695Lys		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E4695K	ENST00000344113.4	37	c.14083	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	8.289	0.817365	0.16607	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.57595	1.4;1.4;1.4;0.39;1.4;1.4	5.46	3.59	0.41128	.	0.411393	0.20688	N	0.087507	T	0.41949	0.1181	L	0.60455	1.87	0.58432	D	0.999999	B;B;B	0.33637	0.097;0.112;0.42	B;B;B	0.32928	0.028;0.119;0.155	T	0.26430	-1.0103	10	0.32370	T	0.25	.	3.3505	0.07150	0.1457:0.3311:0.3987:0.1245	.	1080;4695;4695	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	K	4695;1080;4695;4612;4612;1329;1080	ENSP00000350719:E4695K;ENSP00000349969:E1080K;ENSP00000341781:E4695K;ENSP00000452570:E4612K;ENSP00000450831:E1329K;ENSP00000378249:E1080K	ENSP00000261678:E4612K	E	+	1	0	SYNE2	63666316	0.938000	0.31826	0.682000	0.30024	0.326000	0.28443	1.542000	0.36137	0.764000	0.33197	0.655000	0.94253	GAA	SYNE2	-	NULL		0.443	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64596563	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.299	A
TBATA	219793	genome.wustl.edu	37	10	72541760	72541760	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr10:72541760G>T	ENST00000299290.1	-	4	463	c.74C>A	c.(73-75)tCa>tAa	p.S25*	TBATA_ENST00000545575.1_Nonsense_Mutation_p.S15*|TBATA_ENST00000456372.2_Nonsense_Mutation_p.S25*	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	25					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.S25*(1)									CTTGCGCCCTGACTTCTTCTC	0.592																																																	1	Substitution - Nonsense(1)	cervix(1)											68.0	72.0	71.0					10																	72541760		2203	4300	6503	SO:0001587	stop_gained	219793			AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.74C>A	10.37:g.72541760G>T	ENSP00000299290:p.Ser25*		A4QPA8|B2RPQ2|Q5T4G2	Nonsense_Mutation	SNP	NULL	p.S25*	ENST00000299290.1	37	c.74	CCDS7308.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.176968	0.97348	.	.	ENSG00000166220	ENST00000299290;ENST00000536955;ENST00000456372;ENST00000545575	.	.	.	4.96	4.06	0.47325	.	1.689510	0.03247	N	0.181359	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0105	9.767	0.40567	0.0976:0.0:0.9024:0.0	.	.	.	.	X	25;12;25;15	.	ENSP00000299290:S25X	S	-	2	0	C10orf27	72211766	0.083000	0.21467	0.120000	0.21714	0.104000	0.19210	1.712000	0.37940	1.226000	0.43582	0.591000	0.81541	TCA	TBATA	-	NULL		0.592	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBATA	HGNC	protein_coding	OTTHUMT00000048519.1	G	NM_152710		72541760	-1	no_errors	ENST00000299290	ensembl	human	known	70_37	nonsense	SNP	0.034	T
TEKT5	146279	genome.wustl.edu	37	16	10788238	10788238	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr16:10788238C>G	ENST00000283025.2	-	1	564	c.493G>C	c.(493-495)Gag>Cag	p.E165Q	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	165						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.E165Q(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TTCTGGTTCTCAGTCAGAAGC	0.607																																																	1	Substitution - Missense(1)	cervix(1)											127.0	137.0	133.0					16																	10788238		2197	4300	6497	SO:0001583	missense	146279				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.493G>C	16.37:g.10788238C>G	ENSP00000283025:p.Glu165Gln		A1L3Z3	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.E165Q	ENST00000283025.2	37	c.493	CCDS10542.1	16	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218312	0.58560	.	.	ENSG00000153060	ENST00000283025	T	0.07327	3.2	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000007	T	0.37461	0.1004	M	0.89534	3.04	0.80722	D	1	D	0.67145	0.996	D	0.71414	0.973	T	0.36601	-0.9741	10	0.62326	D	0.03	-42.6681	18.2401	0.89965	0.0:1.0:0.0:0.0	.	165	Q96M29	TEKT5_HUMAN	Q	165	ENSP00000283025:E165Q	ENSP00000283025:E165Q	E	-	1	0	TEKT5	10695739	1.000000	0.71417	0.659000	0.29680	0.012000	0.07955	7.295000	0.78780	2.640000	0.89533	0.650000	0.86243	GAG	TEKT5	-	pfam_Tektin		0.607	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT5	HGNC	protein_coding	OTTHUMT00000251963.1	C	NM_144674		10788238	-1	no_errors	ENST00000283025	ensembl	human	known	70_37	missense	SNP	1.000	G
TENM2	57451	genome.wustl.edu	37	5	167645660	167645660	+	Silent	SNP	C	C	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:167645660C>A	ENST00000518659.1	+	23	4803	c.4764C>A	c.(4762-4764)ccC>ccA	p.P1588P	TENM2_ENST00000403607.2_Silent_p.P1412P|TENM2_ENST00000520394.1_Silent_p.P1349P|TENM2_ENST00000519204.1_Silent_p.P1467P|TENM2_ENST00000545108.1_Silent_p.P1587P	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1588					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CTGCATCCCCCGGAGAGCAGG	0.468																																																	0													139.0	135.0	136.0					5																	167645660		1972	4152	6124	SO:0001819	synonymous_variant	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4764C>A	5.37:g.167645660C>A			Q9ULU2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.P1588	ENST00000518659.1	37	c.4764		5																																																																																			TENM2	-	superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf		0.468	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	C	NM_001122679		167645660	+1	no_errors	ENST00000518659	ensembl	human	known	70_37	silent	SNP	0.001	A
THRAP3	9967	genome.wustl.edu	37	1	36754830	36754830	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:36754830C>T	ENST00000354618.5	+	5	1434	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	THRAP3_ENST00000469141.2_Missense_Mutation_p.R404W	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	404	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R404W(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAGCCTTTTCGGGGCAGTCA	0.428			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)			Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	1	Substitution - Missense(1)	cervix(1)											64.0	68.0	67.0					1																	36754830		2203	4300	6503	SO:0001583	missense	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1210C>T	1.37:g.36754830C>T	ENSP00000346634:p.Arg404Trp		D3DPS5|Q5VTK6	Missense_Mutation	SNP	NULL	p.R404W	ENST00000354618.5	37	c.1210	CCDS405.1	1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268665	0.59540	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.16196	2.36;2.36	5.95	2.92	0.33932	.	0.084738	0.49916	D	0.000125	T	0.32285	0.0824	L	0.54323	1.7	0.48452	D	0.999656	D	0.89917	1.0	D	0.72338	0.977	T	0.02457	-1.1156	10	0.66056	D	0.02	-0.3239	9.3892	0.38363	0.2565:0.6764:0.0:0.0671	.	404	Q9Y2W1	TR150_HUMAN	W	404	ENSP00000346634:R404W;ENSP00000433825:R404W	ENSP00000346634:R404W	R	+	1	2	THRAP3	36527417	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.136000	0.42121	0.827000	0.34685	0.655000	0.94253	CGG	THRAP3	-	NULL		0.428	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	HGNC	protein_coding	OTTHUMT00000021688.2	C	NM_005119		36754830	+1	no_errors	ENST00000354618	ensembl	human	known	70_37	missense	SNP	0.997	T
TMC2	117532	genome.wustl.edu	37	20	2597805	2597805	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr20:2597805G>A	ENST00000358864.1	+	16	2043	c.2028G>A	c.(2026-2028)atG>atA	p.M676I	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	676					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGGCGGTGATGAGCAGCAACG	0.587																																																	0													186.0	133.0	151.0					20																	2597805		2203	4300	6503	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2028G>A	20.37:g.2597805G>A	ENSP00000351732:p.Met676Ile		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.M676I	ENST00000358864.1	37	c.2028	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537304	0.85812	.	.	ENSG00000149488	ENST00000358864	T	0.63096	-0.02	5.35	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.72285	0.3441	L	0.46157	1.445	0.49130	D	0.999753	D	0.76494	0.999	D	0.87578	0.998	T	0.71823	-0.4476	10	0.40728	T	0.16	-17.4459	14.1769	0.65546	0.0:0.1511:0.8489:0.0	.	676	Q8TDI7	TMC2_HUMAN	I	676	ENSP00000351732:M676I	ENSP00000351732:M676I	M	+	3	0	TMC2	2545805	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	1.367000	0.46095	0.650000	0.86243	ATG	TMC2	-	pfam_TMC		0.587	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	G			2597805	+1	no_errors	ENST00000358864	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM120B	144404	genome.wustl.edu	37	12	122209422	122209422	+	Missense_Mutation	SNP	C	C	T	rs560432972		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:122209422C>T	ENST00000449592.2	+	8	747	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	TMEM120B_ENST00000540377.1_Intron	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	216						integral component of membrane (GO:0016021)		p.R216C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TCAGAAGTTTCGCAACCAGTT	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		18433	0.0		0.001	False		,,,				2504	0.0																2	Substitution - Missense(2)	cervix(2)											205.0	181.0	189.0					12																	122209422		1863	4106	5969	SO:0001583	missense	144404			BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.646C>T	12.37:g.122209422C>T	ENSP00000404991:p.Arg216Cys		A0PK01|B3KX33	Missense_Mutation	SNP	pfam_TMPIT	p.R216C	ENST00000449592.2	37	c.646	CCDS41852.1	12	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943253	0.53079	.	.	ENSG00000188735	ENST00000449592;ENST00000541467	T;T	0.35973	1.28;1.28	5.43	5.43	0.79202	.	0.049151	0.85682	D	0.000000	T	0.66096	0.2755	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71718	-0.4508	10	0.87932	D	0	-27.3826	17.9939	0.89177	0.0:1.0:0.0:0.0	.	216	A0PK00	T120B_HUMAN	C	216;195	ENSP00000404991:R216C;ENSP00000442105:R195C	ENSP00000345152:R216C	R	+	1	0	TMEM120B	120693805	0.992000	0.36948	0.921000	0.36526	0.291000	0.27294	1.867000	0.39499	2.536000	0.85505	0.514000	0.50259	CGC	TMEM120B	-	pfam_TMPIT		0.488	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM120B	HGNC	protein_coding	OTTHUMT00000402158.1	C	NM_001080825		122209422	+1	no_errors	ENST00000342607	ensembl	human	known	70_37	missense	SNP	1.000	T
TNIK	23043	genome.wustl.edu	37	3	170828505	170828505	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr3:170828505C>T	ENST00000436636.2	-	19	2626	c.2282G>A	c.(2281-2283)cGa>cAa	p.R761Q	TNIK_ENST00000341852.6_Missense_Mutation_p.R677Q|TNIK_ENST00000357327.5_Missense_Mutation_p.R732Q|TNIK_ENST00000460047.1_Missense_Mutation_p.R706Q|TNIK_ENST00000369326.5_Missense_Mutation_p.R732Q|TNIK_ENST00000538048.1_Missense_Mutation_p.R706Q|TNIK_ENST00000470834.1_Missense_Mutation_p.R732Q|TNIK_ENST00000488470.1_Missense_Mutation_p.R706Q|TNIK_ENST00000284483.8_Missense_Mutation_p.R761Q|TNIK_ENST00000475336.1_Missense_Mutation_p.R677Q	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	761	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R761Q(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AGTTTTACCTCGAACTCTGGT	0.547																																																	2	Substitution - Missense(2)	cervix(2)											43.0	45.0	44.0					3																	170828505		1975	4168	6143	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2282G>A	3.37:g.170828505C>T	ENSP00000399511:p.Arg761Gln		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.R761Q	ENST00000436636.2	37	c.2282	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	C	29.2	4.990034	0.93106	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78	6.17	6.17	0.99709	.	0.136497	0.48767	D	0.000163	T	0.31263	0.0791	M	0.68593	2.085	0.47862	D	0.999533	D;D;D;D;D;D;D;D	0.67145	0.978;0.986;0.978;0.978;0.996;0.986;0.978;0.993	P;P;P;P;P;P;P;P	0.59546	0.455;0.696;0.455;0.455;0.859;0.787;0.455;0.727	T	0.00048	-1.2204	10	0.51188	T	0.08	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	677;732;706;677;761;732;706;761	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	Q	761;732;706;677;761;677;732;706;706;732	ENSP00000399511:R761Q;ENSP00000358332:R732Q;ENSP00000443278:R706Q;ENSP00000345352:R677Q;ENSP00000284483:R761Q;ENSP00000418156:R677Q;ENSP00000349880:R732Q;ENSP00000418916:R706Q;ENSP00000418378:R706Q;ENSP00000419990:R732Q	ENSP00000284483:R761Q	R	-	2	0	TNIK	172311199	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.153000	0.58118	2.941000	0.99782	0.655000	0.94253	CGA	TNIK	-	NULL		0.547	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	C	XM_039796		170828505	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	missense	SNP	1.000	T
TNRC6C	57690	genome.wustl.edu	37	17	76045615	76045615	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr17:76045615G>A	ENST00000588061.1	+	5	1199	c.472G>A	c.(472-474)Gag>Aag	p.E158K	TNRC6C_ENST00000335749.4_Missense_Mutation_p.E158K|TNRC6C_ENST00000541771.1_Missense_Mutation_p.E158K|TNRC6C_ENST00000544502.1_Missense_Mutation_p.E158K|TNRC6C_ENST00000588847.1_Missense_Mutation_p.E158K|TNRC6C_ENST00000301624.4_Missense_Mutation_p.E158K			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	158	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E158K(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCTGCCACAAGAGAGCACAGA	0.478																																																	2	Substitution - Missense(2)	cervix(2)											96.0	98.0	97.0					17																	76045615		2046	4188	6234	SO:0001583	missense	57690			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.472G>A	17.37:g.76045615G>A	ENSP00000468647:p.Glu158Lys		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E158K	ENST00000588061.1	37	c.472	CCDS45798.1	17	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967167	0.74131	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	5.36	5.36	0.76844	.	0.111909	0.64402	D	0.000005	T	0.39517	0.1081	L	0.58101	1.795	0.54753	D	0.999986	P;D;P	0.71674	0.873;0.998;0.799	B;D;B	0.78314	0.385;0.991;0.214	T	0.01334	-1.1382	10	0.30854	T	0.27	-14.6184	19.277	0.94036	0.0:0.0:1.0:0.0	.	158;158;158	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	K	158	ENSP00000336783:E158K;ENSP00000301624:E158K;ENSP00000440310:E158K;ENSP00000442421:E158K	ENSP00000301624:E158K	E	+	1	0	TNRC6C	73557210	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	6.175000	0.71949	2.782000	0.95742	0.655000	0.94253	GAG	TNRC6C	-	NULL		0.478	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	G	NM_018996		76045615	+1	no_errors	ENST00000335749	ensembl	human	known	70_37	missense	SNP	1.000	A
TP63	8626	genome.wustl.edu	37	3	189585726	189585726	+	Silent	SNP	C	C	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr3:189585726C>A	ENST00000264731.3	+	7	1076	c.987C>A	c.(985-987)acC>acA	p.T329T	TP63_ENST00000440651.2_Silent_p.T329T|TP63_ENST00000392461.3_Silent_p.T235T|TP63_ENST00000449992.1_Silent_p.T150T|TP63_ENST00000456148.1_Silent_p.T235T|TP63_ENST00000382063.4_Silent_p.T244T|TP63_ENST00000418709.2_Silent_p.T329T|TP63_ENST00000354600.5_Silent_p.T235T|TP63_ENST00000320472.5_Silent_p.T329T|TP63_ENST00000437221.1_Silent_p.T235T|TP63_ENST00000392463.2_Silent_p.T235T|TP63_ENST00000392460.3_Silent_p.T329T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	329					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.T329T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTCTGGAAACCAGAGAGTAAG	0.403										HNSCC(45;0.13)																																							1	Substitution - coding silent(1)	cervix(1)											76.0	69.0	72.0					3																	189585726		2203	4300	6503	SO:0001819	synonymous_variant	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.987C>A	3.37:g.189585726C>A			O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.T329	ENST00000264731.3	37	c.987	CCDS3293.1	3																																																																																			TP63	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.403	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	C	NM_003722		189585726	+1	no_errors	ENST00000264731	ensembl	human	known	70_37	silent	SNP	1.000	A
TRIP12	9320	genome.wustl.edu	37	2	230723835	230723835	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:230723835G>C	ENST00000283943.5	-	3	732	c.554C>G	c.(553-555)tCa>tGa	p.S185*	TRIP12_ENST00000409677.1_Nonsense_Mutation_p.S227*|TRIP12_ENST00000543084.1_Nonsense_Mutation_p.S227*|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.S227*	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	185					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.S185*(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGCTTTGGCTGAGGTGGCTGA	0.522																																																	1	Substitution - Nonsense(1)	cervix(1)											59.0	53.0	55.0					2																	230723835		2203	4300	6503	SO:0001587	stop_gained	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.554C>G	2.37:g.230723835G>C	ENSP00000283943:p.Ser185*		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Nonsense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.S185*	ENST00000283943.5	37	c.554	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.669834	0.96754	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000453485	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.8788	0.96888	0.0:0.0:1.0:0.0	.	.	.	.	X	185;227;227;227;55	.	ENSP00000283943:S185X	S	-	2	0	TRIP12	230432079	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.434000	0.97515	2.704000	0.92352	0.563000	0.77884	TCA	TRIP12	-	NULL		0.522	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	G	NM_004238		230723835	-1	no_errors	ENST00000283943	ensembl	human	known	70_37	nonsense	SNP	1.000	C
TTC17	55761	genome.wustl.edu	37	11	43429072	43429072	+	Missense_Mutation	SNP	T	T	G	rs369842736		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:43429072T>G	ENST00000039989.4	+	15	2023	c.2009T>G	c.(2008-2010)cTt>cGt	p.L670R	TTC17_ENST00000299240.6_Missense_Mutation_p.L670R|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	670					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.L670R(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CATTACGGCCTTCATCTTGAT	0.423																																																	1	Substitution - Missense(1)	cervix(1)											96.0	82.0	87.0					11																	43429072		2203	4300	6503	SO:0001583	missense	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2009T>G	11.37:g.43429072T>G	ENSP00000039989:p.Leu670Arg		G3XAB3|Q8NEC0	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L670R	ENST00000039989.4	37	c.2009	CCDS31466.1	11	.	.	.	.	.	.	.	.	.	.	T	19.49	3.836944	0.71373	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.57436	0.4;0.4	5.63	5.63	0.86233	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	N	0.11064	0.09	0.58432	D	0.999997	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.97110	0.97;1.0;0.968	T	0.49103	-0.8974	10	0.10377	T	0.69	-13.0672	15.8349	0.78791	0.0:0.0:0.0:1.0	.	670;670;670	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	R	670	ENSP00000299240:L670R;ENSP00000039989:L670R	ENSP00000039989:L670R	L	+	2	0	TTC17	43385648	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.375000	0.79646	2.142000	0.66516	0.482000	0.46254	CTT	TTC17	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.423	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC17	HGNC	protein_coding	OTTHUMT00000389577.2	T	NM_018259		43429072	+1	no_errors	ENST00000039989	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179604131	179604131	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:179604131G>A	ENST00000591111.1	-	46	13102	c.12878C>T	c.(12877-12879)aCa>aTa	p.T4293I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T4247I|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T4610I|TTN_ENST00000359218.5_Missense_Mutation_p.T4372I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T4439I			Q8WZ42	TITIN_HUMAN	titin	32504	Ig-like 23.				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)	p.T4372I(1)		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)			CACTAAAGGTGTATGTATCAT	0.423																																																	1	Substitution - Missense(1)	cervix(1)											147.0	134.0	138.0					2																	179604131		1947	4153	6100	SO:0001583	missense	7273			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.12878C>T	2.37:g.179604131G>A	ENSP00000465570:p.Thr4293Ile		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_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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.T4439I	ENST00000591111.1	37	c.13316		2	.	.	.	.	.	.	.	.	.	.	G	1.968	-0.437257	0.04636	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.67698	-0.28;-0.28;-0.28	5.93	-4.2	0.03823	.	.	.	.	.	T	0.52853	0.1760	L	0.60904	1.88	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.52223	-0.8604	9	0.87932	D	0	.	1.1421	0.01767	0.2009:0.255:0.142:0.4022	.	4247;4372;4439	D3DPF9;E7EQE6;E7ET18	.;.;.	I	4247;4439;4372;4247	ENSP00000434586:T4247I;ENSP00000340554:T4439I;ENSP00000352154:T4372I	ENSP00000340554:T4439I	T	-	2	0	TTN	179312376	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.369000	0.07533	-0.373000	0.07979	0.655000	0.94253	ACA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179604131	-1	no_errors	ENST00000342175	ensembl	human	known	70_37	missense	SNP	0.000	A
TTN	7273	genome.wustl.edu	37	2	179641600	179641600	+	Missense_Mutation	SNP	C	C	T	rs375029799		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:179641600C>T	ENST00000591111.1	-	28	5215	c.4991G>A	c.(4990-4992)cGg>cAg	p.R1664Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R1618Q|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R1664Q|TTN_ENST00000589042.1_Missense_Mutation_p.R1664Q|TTN_ENST00000360870.5_Missense_Mutation_p.R1664Q|TTN_ENST00000359218.5_Missense_Mutation_p.R1618Q|TTN_ENST00000342175.6_Missense_Mutation_p.R1618Q			Q8WZ42	TITIN_HUMAN	titin	12510			R -> Q (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)	p.R1618Q(4)|p.R1664L(3)|p.R1618L(3)|p.R1664Q(3)		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)			ATATGTCCCCCGTGGGATGAT	0.458																																																	13	Substitution - Missense(13)	cervix(6)|lung(6)|ovary(1)						C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	74.0	69.0	71.0		4853,4991,4991,4853,4853	5.3	1.0	2		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1618/26927,1664/33424,1664/5605,1618/27052,1618/27119	179641600	1,13005	2203	4300	6503	SO:0001583	missense	7273			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.4991G>A	2.37:g.179641600C>T	ENSP00000465570:p.Arg1664Gln		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.R1664Q	ENST00000591111.1	37	c.4991		2	.	.	.	.	.	.	.	.	.	.	C	9.226	1.034723	0.19590	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66099	-0.19;0.01;-0.01;0.02;0.22	5.33	5.33	0.75918	Ribonuclease H-like (1);	.	.	.	.	T	0.48003	0.1476	N	0.08118	0	0.22803	N	0.998717	P;P;P;P;D	0.62365	0.913;0.913;0.913;0.913;0.991	B;B;B;B;P	0.49708	0.129;0.129;0.129;0.129;0.62	T	0.39583	-0.9607	9	0.87932	D	0	.	6.9496	0.24538	0.0:0.7871:0.0:0.2129	.	1618;1618;1618;1664;1664	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	1664;1618;1618;1618;1618;1664	ENSP00000343764:R1664Q;ENSP00000434586:R1618Q;ENSP00000340554:R1618Q;ENSP00000352154:R1618Q;ENSP00000354117:R1664Q	ENSP00000340554:R1618Q	R	-	2	0	TTN	179349845	1.000000	0.71417	0.997000	0.53966	0.587000	0.36485	2.590000	0.46154	2.518000	0.84900	0.650000	0.86243	CGG	TTN	-	superfamily_RNaseH-like_dom		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179641600	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TXNL4B	54957	genome.wustl.edu	37	16	72122968	72122968	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr16:72122968C>G	ENST00000268483.3	-	3	523	c.202G>C	c.(202-204)Gtt>Ctt	p.V68L	RP11-384M15.3_ENST00000561827.1_RNA|TXNL4B_ENST00000423037.1_Missense_Mutation_p.V68L|TXNL4B_ENST00000426362.2_Missense_Mutation_p.V68L	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	68					mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)		p.V68L(1)		cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						TGTGTATAAACTGCAGTTTGG	0.383																																																	1	Substitution - Missense(1)	cervix(1)											139.0	130.0	133.0					16																	72122968		2198	4300	6498	SO:0001583	missense	54957			BC009646	CCDS10906.1	16q22.2	2012-11-19			ENSG00000140830	ENSG00000140830			26041	protein-coding gene	gene with protein product						15161931	Standard	NM_017853		Approved	FLJ20511, DLP, Dim2	uc010vmn.2	Q9NX01	OTTHUMG00000173453	ENST00000268483.3:c.202G>C	16.37:g.72122968C>G	ENSP00000268483:p.Val68Leu		D3DWS6	Missense_Mutation	SNP	pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5	p.V68L	ENST00000268483.3	37	c.202	CCDS10906.1	16	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122531	0.37436	.	.	ENSG00000140830	ENST00000268483;ENST00000426362;ENST00000423037	.	.	.	4.66	2.7	0.31948	Thioredoxin-like fold (2);	0.124699	0.53938	D	0.000043	T	0.52597	0.1744	L	0.52011	1.625	0.52501	D	0.999959	B	0.11235	0.004	B	0.10450	0.005	T	0.54248	-0.8322	9	0.51188	T	0.08	.	8.94	0.35725	0.0:0.8127:0.0:0.1873	.	68	Q9NX01	TXN4B_HUMAN	L	68	.	ENSP00000268483:V68L	V	-	1	0	TXNL4B	70680469	0.999000	0.42202	0.547000	0.28179	0.856000	0.48823	3.772000	0.55325	1.322000	0.45245	0.561000	0.74099	GTT	TXNL4B	-	pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5		0.383	TXNL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNL4B	HGNC	protein_coding	OTTHUMT00000269007.2	C	NM_017853		72122968	-1	no_errors	ENST00000268483	ensembl	human	known	70_37	missense	SNP	0.824	G
UMPS	7372	genome.wustl.edu	37	3	124461011	124461011	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr3:124461011G>A	ENST00000232607.2	+	5	1277	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	UMPS_ENST00000536109.1_Missense_Mutation_p.E299K|UMPS_ENST00000413078.2_Intron|UMPS_ENST00000538242.1_Missense_Mutation_p.E213K	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	391	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)	p.E391K(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	TAGAATGGCTGAGGAGCACTC	0.348																																																	1	Substitution - Missense(1)	cervix(1)											197.0	201.0	200.0					3																	124461011		2203	4300	6503	SO:0001583	missense	7372				CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.1171G>A	3.37:g.124461011G>A	ENSP00000232607:p.Glu391Lys		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	pfam_OMPdeCOase_dom,pfam_PRibTrfase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_dom	p.E391K	ENST00000232607.2	37	c.1171	CCDS3029.1	3	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230021	0.58777	.	.	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242	T;T;T	0.62498	0.02;0.02;0.02	5.93	5.06	0.68205	Orotidine 5&apos (2);Aldolase-type TIM barrel (1);-phosphate decarboxylase domain (2);Ribulose-phosphate binding barrel (1);	0.049066	0.85682	D	0.000000	T	0.51092	0.1654	L	0.37800	1.135	0.80722	D	1	P;B	0.46142	0.873;0.109	B;B	0.41813	0.367;0.063	T	0.45891	-0.9230	10	0.14252	T	0.57	-18.1292	13.4166	0.60972	0.0723:0.0:0.9277:0.0	.	213;391	B5LY70;P11172	.;UMPS_HUMAN	K	391;299;213	ENSP00000232607:E391K;ENSP00000443577:E299K;ENSP00000444988:E213K	ENSP00000232607:E391K	E	+	1	0	UMPS	125943701	1.000000	0.71417	0.937000	0.37676	0.953000	0.61014	7.249000	0.78278	1.523000	0.49018	0.655000	0.94253	GAG	UMPS	-	pfam_OMPdeCOase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase		0.348	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UMPS	HGNC	protein_coding	OTTHUMT00000355271.1	G	NM_000373		124461011	+1	no_errors	ENST00000232607	ensembl	human	known	70_37	missense	SNP	1.000	A
VIPAS39	63894	genome.wustl.edu	37	14	77919688	77919688	+	Silent	SNP	G	G	A	rs566440125		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:77919688G>A	ENST00000553888.1	-	3	660	c.150C>T	c.(148-150)gaC>gaT	p.D50D	VIPAS39_ENST00000448935.2_Silent_p.D50D|VIPAS39_ENST00000556412.1_Silent_p.D76D|VIPAS39_ENST00000327028.4_Silent_p.D50D|VIPAS39_ENST00000343765.2_Silent_p.D50D|VIPAS39_ENST00000557658.1_Silent_p.D50D	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	50					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)		p.D50D(1)									GGTCATCATCGTCATCATCAT	0.517																																																	1	Substitution - coding silent(1)	cervix(1)											293.0	287.0	289.0					14																	77919688		2203	4300	6503	SO:0001819	synonymous_variant	63894			AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.150C>T	14.37:g.77919688G>A			B4DPI6|O95434|Q9H7E1|Q9H9I9	Silent	SNP	pfam_Golgin_subfamily_A_member_5	p.D50	ENST00000553888.1	37	c.150	CCDS9862.1	14																																																																																			VIPAS39	-	pfam_Golgin_subfamily_A_member_5		0.517	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPAS39	HGNC	protein_coding	OTTHUMT00000414008.1	G	NM_022067		77919688	-1	no_errors	ENST00000343765	ensembl	human	known	70_37	silent	SNP	1.000	A
WARS	7453	genome.wustl.edu	37	14	100820164	100820164	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:100820164C>T	ENST00000355338.2	-	6	1203	c.585G>A	c.(583-585)atG>atA	p.M195I	RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000557135.1_Missense_Mutation_p.M195I|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000358655.4_Missense_Mutation_p.M154I|WARS_ENST00000392882.2_Missense_Mutation_p.M195I|WARS_ENST00000344102.5_Missense_Mutation_p.M154I|WARS_ENST00000556645.1_Missense_Mutation_p.M154I	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	195					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.M195I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CGTCATCCGTCATCTGGATGA	0.527																																																	1	Substitution - Missense(1)	cervix(1)											141.0	122.0	128.0					14																	100820164		2203	4300	6503	SO:0001583	missense	7453			M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.585G>A	14.37:g.100820164C>T	ENSP00000347495:p.Met195Ile		A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase	p.M195I	ENST00000355338.2	37	c.585	CCDS9960.1	14	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416810	0.62511	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395;ENST00000556504;ENST00000557722;ENST00000557297	T;T;T;T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;0.97	6.0	6.0	0.97389	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.045596	0.85682	D	0.000000	T	0.44244	0.1284	N	0.20357	0.565	0.45554	D	0.998506	B	0.09022	0.002	B	0.17979	0.02	T	0.35176	-0.9799	10	0.15499	T	0.54	-5.9271	10.4655	0.44604	0.0:0.8523:0.0:0.1477	.	195	P23381	SYWC_HUMAN	I	195;154;195;154;195;154;154;154;195;154	ENSP00000376620:M195I;ENSP00000351481:M154I;ENSP00000347495:M195I;ENSP00000339485:M154I;ENSP00000451460:M195I;ENSP00000451887:M154I;ENSP00000451490:M154I;ENSP00000451251:M154I;ENSP00000450500:M195I;ENSP00000451599:M154I	ENSP00000339485:M154I	M	-	3	0	WARS	99889917	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.152000	0.42272	2.848000	0.98002	0.655000	0.94253	ATG	WARS	-	pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase		0.527	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WARS	HGNC	protein_coding	OTTHUMT00000414236.1	C	NM_004184		100820164	-1	no_errors	ENST00000355338	ensembl	human	known	70_37	missense	SNP	1.000	T
YTHDC2	64848	genome.wustl.edu	37	5	112862370	112862370	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:112862370C>G	ENST00000161863.4	+	4	776	c.563C>G	c.(562-564)tCt>tGt	p.S188C	YTHDC2_ENST00000515883.1_Missense_Mutation_p.S188C	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	188					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.S188C(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GAATTTGATTCTTTTAGGCAG	0.368																																																	1	Substitution - Missense(1)	cervix(1)											85.0	87.0	86.0					5																	112862370		2202	4300	6502	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.563C>G	5.37:g.112862370C>G	ENSP00000161863:p.Ser188Cys		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S188C	ENST00000161863.4	37	c.563	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400311	0.62177	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000514720;ENST00000511372	T;T	0.07688	4.17;3.17	5.52	5.52	0.82312	.	0.409349	0.29745	N	0.011315	T	0.12987	0.0315	L	0.40543	1.245	0.34765	D	0.733097	P	0.51240	0.943	P	0.51193	0.662	T	0.03728	-1.1009	10	0.56958	D	0.05	.	11.2162	0.48827	0.0:0.8577:0.0:0.1423	.	188	Q9H6S0	YTDC2_HUMAN	C	188;188;128;98	ENSP00000161863:S188C;ENSP00000423101:S188C	ENSP00000161863:S188C	S	+	2	0	YTHDC2	112890269	0.920000	0.31207	1.000000	0.80357	0.989000	0.77384	0.771000	0.26633	2.753000	0.94483	0.467000	0.42956	TCT	YTHDC2	-	NULL		0.368	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	C	NM_022828		112862370	+1	no_errors	ENST00000161863	ensembl	human	known	70_37	missense	SNP	1.000	G
ZEB2	9839	genome.wustl.edu	37	2	145147383	145147383	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:145147383C>T	ENST00000558170.2	-	10	4464	c.3280G>A	c.(3280-3282)Gag>Aag	p.E1094K	ZEB2_ENST00000303660.4_Missense_Mutation_p.E1094K|ZEB2_ENST00000539609.3_Missense_Mutation_p.E1070K|ZEB2_ENST00000409487.3_Missense_Mutation_p.E1094K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1094	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.E1094K(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCGCGCGCCTCGCGCTCCGCC	0.617																																					Melanoma(33;1235 1264 5755 16332)												1	Substitution - Missense(1)	cervix(1)											48.0	49.0	48.0					2																	145147383		2203	4300	6503	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3280G>A	2.37:g.145147383C>T	ENSP00000454157:p.Glu1094Lys		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.E1094K	ENST00000558170.2	37	c.3280	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.783312	0.96937	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.14144	2.53;2.53;2.53	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.99	D;B;B	0.83275	0.996;0.444;0.444	T	0.08743	-1.0707	10	0.87932	D	0	-12.297	19.7945	0.96474	0.0:1.0:0.0:0.0	.	1070;1093;1094	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	K	1070;1094;1094	ENSP00000443792:E1070K;ENSP00000302501:E1094K;ENSP00000386854:E1094K	ENSP00000302501:E1094K	E	-	1	0	ZEB2	144863853	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.744000	0.85034	2.746000	0.94184	0.591000	0.81541	GAG	ZEB2	-	NULL		0.617	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	C	NM_014795		145147383	-1	no_errors	ENST00000303660	ensembl	human	known	70_37	missense	SNP	1.000	T
ZKSCAN2	342357	genome.wustl.edu	37	16	25255471	25255471	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr16:25255471C>T	ENST00000328086.7	-	6	2419	c.1616G>A	c.(1615-1617)cGa>cAa	p.R539Q		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	539					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R539Q(1)|p.R539L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GCCGCACTCTCGAAGCTGTTC	0.498																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											72.0	72.0	72.0					16																	25255471		2197	4300	6497	SO:0001583	missense	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1616G>A	16.37:g.25255471C>T	ENSP00000331626:p.Arg539Gln		A1L3B4|Q6ZN77	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R539Q	ENST00000328086.7	37	c.1616	CCDS32410.1	16	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954920	0.34471	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.42513	0.97	5.48	2.44	0.29823	SANT domain, DNA binding (1);	0.267552	0.27210	N	0.020407	T	0.28599	0.0708	L	0.36672	1.1	0.09310	N	1	B;B	0.19331	0.035;0.035	B;B	0.14578	0.011;0.011	T	0.14559	-1.0468	10	0.25106	T	0.35	-5.269	8.554	0.33469	0.0:0.7446:0.0:0.2554	.	335;539	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	Q	539	ENSP00000331626:R539Q	ENSP00000331626:R539Q	R	-	2	0	ZKSCAN2	25162972	0.060000	0.20803	0.231000	0.23993	0.967000	0.64934	0.906000	0.28517	0.811000	0.34303	-0.122000	0.15005	CGA	ZKSCAN2	-	NULL		0.498	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN2	HGNC	protein_coding	OTTHUMT00000435739.1	C	NM_001012981		25255471	-1	no_errors	ENST00000328086	ensembl	human	known	70_37	missense	SNP	0.111	T
ZNF160	90338	genome.wustl.edu	37	19	53589517	53589517	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr19:53589517G>C	ENST00000429604.1	-	4	428	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	ZNF160_ENST00000599056.1_Missense_Mutation_p.Q5E|ZNF160_ENST00000599729.1_5'Flank|ZNF160_ENST00000418871.1_Missense_Mutation_p.Q5E|ZNF160_ENST00000355147.5_Missense_Mutation_p.Q5E	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	5					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q5K(2)|p.Q5E(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CACTTTACCTGAGTAAGGGCC	0.428																																																	3	Substitution - Missense(3)	lung(2)|cervix(1)											159.0	129.0	139.0					19																	53589517		2203	4300	6503	SO:0001583	missense	90338			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.13C>G	19.37:g.53589517G>C	ENSP00000406201:p.Gln5Glu		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	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.Q5E	ENST00000429604.1	37	c.13	CCDS12859.1	19	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272944	0.40194	.	.	ENSG00000170949	ENST00000429604;ENST00000418871;ENST00000355147	T;T;T	0.00940	5.52;5.52;5.52	2.32	2.32	0.28847	Krueppel-associated box (1);	.	.	.	.	T	0.03434	0.0099	M	0.79805	2.47	0.09310	N	0.999998	P;B	0.51449	0.945;0.055	P;B	0.55455	0.776;0.023	T	0.28554	-1.0040	9	0.54805	T	0.06	.	8.2325	0.31605	0.0:0.0:1.0:0.0	.	5;5	Q9BVY9;Q9HCG1	.;ZN160_HUMAN	E	5	ENSP00000406201:Q5E;ENSP00000409597:Q5E;ENSP00000347273:Q5E	ENSP00000347273:Q5E	Q	-	1	0	ZNF160	58281329	0.466000	0.25823	0.546000	0.28166	0.034000	0.12701	0.777000	0.26718	1.616000	0.50265	0.655000	0.94253	CAG	ZNF160	-	superfamily_Krueppel-associated_box		0.428	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF160	HGNC	protein_coding	OTTHUMT00000463994.2	G	NM_033288		53589517	-1	no_errors	ENST00000418871	ensembl	human	known	70_37	missense	SNP	0.602	C
ZNF594	84622	genome.wustl.edu	37	17	5086862	5086862	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr17:5086862C>G	ENST00000399604.4	-	1	830	c.690G>C	c.(688-690)caG>caC	p.Q230H	ZNF594_ENST00000575779.1_Missense_Mutation_p.Q230H			Q96JF6	ZN594_HUMAN	zinc finger protein 594	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q230H(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGTGGATTCTCTGGTGCAGGA	0.438																																																	1	Substitution - Missense(1)	cervix(1)											104.0	107.0	106.0					17																	5086862		2051	4221	6272	SO:0001583	missense	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.690G>C	17.37:g.5086862C>G	ENSP00000382513:p.Gln230His		Q6RFS0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q230H	ENST00000399604.4	37	c.690	CCDS42241.1	17	.	.	.	.	.	.	.	.	.	.	C	3.775	-0.046880	0.07407	.	.	ENSG00000180626	ENST00000399604	T	0.18502	2.21	2.36	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22859	0.0552	L	0.48986	1.54	0.20638	N	0.99988	D	0.57899	0.981	P	0.53035	0.716	T	0.08186	-1.0734	9	0.52906	T	0.07	.	6.6334	0.22869	0.0:0.8341:0.0:0.1659	.	230	Q96JF6	ZN594_HUMAN	H	230	ENSP00000382513:Q230H	ENSP00000382513:Q230H	Q	-	3	2	ZNF594	5027586	0.000000	0.05858	0.612000	0.29024	0.229000	0.25112	-0.361000	0.07612	1.314000	0.45095	0.462000	0.41574	CAG	ZNF594	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF594	HGNC	protein_coding	OTTHUMT00000438996.1	C	XM_290737		5086862	-1	no_errors	ENST00000399604	ensembl	human	known	70_37	missense	SNP	0.996	G
ZNF862	643641	genome.wustl.edu	37	7	149557788	149557788	+	Silent	SNP	G	G	A			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr7:149557788G>A	ENST00000223210.4	+	7	1784	c.1539G>A	c.(1537-1539)gtG>gtA	p.V513V	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.V513V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CTTTTAAAGTGGAGACTTTAA	0.468																																																	1	Substitution - coding silent(1)	cervix(1)											65.0	70.0	69.0					7																	149557788		1983	4145	6128	SO:0001819	synonymous_variant	643641			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.1539G>A	7.37:g.149557788G>A			A0AUL8	Silent	SNP	pfam_Krueppel-associated_box,pfam_HATC,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box	p.V513	ENST00000223210.4	37	c.1539	CCDS47741.1	7																																																																																			ZNF862	-	smart_Znf_TTF		0.468	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF862	HGNC	protein_coding	OTTHUMT00000350165.1	G	NM_001099220		149557788	+1	no_errors	ENST00000223210	ensembl	human	known	70_37	silent	SNP	1.000	A
ZPLD1	131368	genome.wustl.edu	37	3	102183077	102183077	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr3:102183077G>C	ENST00000491959.1	+	14	1625	c.743G>C	c.(742-744)cGa>cCa	p.R248P	ZPLD1_ENST00000466937.1_Missense_Mutation_p.R248P|ZPLD1_ENST00000306176.1_Missense_Mutation_p.R264P			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	248	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)		p.R264Q(1)|p.R264P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GATGACATTCGATATGATCTT	0.323																																																	2	Substitution - Missense(2)	cervix(1)|large_intestine(1)											190.0	185.0	187.0					3																	102183077		2203	4300	6503	SO:0001583	missense	131368			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.743G>C	3.37:g.102183077G>C	ENSP00000420265:p.Arg248Pro		Q49AS1|Q8WU36	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	p.R264P	ENST00000491959.1	37	c.791		3	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158788	0.78226	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.83250	-1.7;-1.7;-1.7	5.6	5.6	0.85130	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.90435	0.7005	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.977	D	0.90610	0.4551	10	0.66056	D	0.02	-3.4553	19.6097	0.95600	0.0:0.0:1.0:0.0	.	264;248	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	P	248;264;248	ENSP00000420265:R248P;ENSP00000307801:R264P;ENSP00000418253:R248P	ENSP00000307801:R264P	R	+	2	0	ZPLD1	103665767	1.000000	0.71417	0.979000	0.43373	0.971000	0.66376	9.848000	0.99507	2.630000	0.89119	0.591000	0.81541	CGA	ZPLD1	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.323	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	ZPLD1	HGNC	protein_coding	OTTHUMT00000353984.1	G	NM_175056		102183077	+1	no_errors	ENST00000306176	ensembl	human	known	70_37	missense	SNP	1.000	C
