#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	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
ABCA12	26154	genome.wustl.edu	37	2	215819966	215819966	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:215819966G>A	ENST00000272895.7	-	43	6572	c.6353C>T	c.(6352-6354)tCa>tTa	p.S2118L	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.S1800L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2118					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTATACCACTGACAGGGAAAC	0.408																																					Ovarian(66;664 1488 5121 34295)												0													82.0	73.0	76.0					2																	215819966		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6353C>T	2.37:g.215819966G>A	ENSP00000272895:p.Ser2118Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S2118L	ENST00000272895.7	37	c.6353	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	G	14.42	2.531578	0.45073	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.80566	-1.39;-1.39	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000009	D	0.86343	0.5910	L	0.43757	1.38	0.80722	D	1	D;P	0.64830	0.994;0.537	D;B	0.64776	0.929;0.236	D	0.84648	0.0699	10	0.44086	T	0.13	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	2118;1800	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	L	2118;1800	ENSP00000272895:S2118L;ENSP00000374312:S1800L	ENSP00000272895:S2118L	S	-	2	0	ABCA12	215528211	1.000000	0.71417	0.973000	0.42090	0.957000	0.61999	6.535000	0.73838	2.834000	0.97654	0.650000	0.86243	TCA	ABCA12	-	NULL		0.408	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	G	NM_173076		215819966	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	missense	SNP	1.000	A
ABCA8	10351	genome.wustl.edu	37	17	66890334	66890334	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:66890334C>G	ENST00000269080.2	-	21	3033	c.2896G>C	c.(2896-2898)Gaa>Caa	p.E966Q	ABCA8_ENST00000430352.2_Missense_Mutation_p.E1006Q|ABCA8_ENST00000586539.1_Missense_Mutation_p.E1006Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	966					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GTACTTCTTTCAGTTCGGATA	0.373																																																	0													62.0	60.0	61.0					17																	66890334		2203	4299	6502	SO:0001583	missense	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2896G>C	17.37:g.66890334C>G	ENSP00000269080:p.Glu966Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E1006Q	ENST00000269080.2	37	c.3016	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537371	0.27475	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.87103	-2.21;-2.21	5.08	5.08	0.68730	.	0.632242	0.14939	N	0.289655	D	0.83482	0.5264	L	0.42245	1.32	0.09310	N	1	B;B;B;B;B	0.28208	0.203;0.152;0.129;0.064;0.152	B;B;B;B;B	0.35899	0.094;0.213;0.064;0.094;0.152	T	0.68292	-0.5447	10	0.10636	T	0.68	.	14.1648	0.65469	0.0:1.0:0.0:0.0	.	945;1006;1006;1006;966	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	Q	966;1006;945	ENSP00000269080:E966Q;ENSP00000402814:E1006Q	ENSP00000269080:E966Q	E	-	1	0	ABCA8	64401929	0.005000	0.15991	0.140000	0.22221	0.021000	0.10359	1.797000	0.38804	2.801000	0.96364	0.655000	0.94253	GAA	ABCA8	-	NULL		0.373	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	C	NM_007168		66890334	-1	no_errors	ENST00000430352	ensembl	human	known	70_37	missense	SNP	0.370	G
ACACB	32	genome.wustl.edu	37	12	109654655	109654655	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:109654655C>T	ENST00000338432.7	+	24	3613	c.3494C>T	c.(3493-3495)tCc>tTc	p.S1165F	ACACB_ENST00000377848.3_Missense_Mutation_p.S1165F|ACACB_ENST00000377854.5_Intron			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1165					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)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCAGACATGTCCCAGGTGCTG	0.532																																																	0													109.0	90.0	96.0					12																	109654655		2203	4300	6503	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3494C>T	12.37:g.109654655C>T	ENSP00000341044:p.Ser1165Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	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,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.S1165F	ENST00000338432.7	37	c.3494	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455039	0.84209	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000390027	T;T	0.48836	0.8;0.8	5.33	5.33	0.75918	Acetyl-CoA carboxylase, central domain (1);	0.278938	0.38111	N	0.001815	T	0.63094	0.2482	L	0.52573	1.65	0.80722	D	1	P	0.40230	0.708	P	0.56398	0.797	T	0.61252	-0.7100	10	0.54805	T	0.06	.	19.4891	0.95042	0.0:1.0:0.0:0.0	.	1165	O00763	ACACB_HUMAN	F	1165;1165;396	ENSP00000341044:S1165F;ENSP00000367079:S1165F	ENSP00000341044:S1165F	S	+	2	0	ACACB	108139038	0.996000	0.38824	0.954000	0.39281	0.997000	0.91878	3.355000	0.52262	2.679000	0.91253	0.650000	0.86243	TCC	ACACB	-	pfam_AcCoA_COase_cen		0.532	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	C	NM_001093		109654655	+1	no_errors	ENST00000338432	ensembl	human	known	70_37	missense	SNP	0.998	T
ACOX2	8309	genome.wustl.edu	37	3	58516240	58516240	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:58516240G>A	ENST00000302819.5	-	8	1236	c.945C>T	c.(943-945)atC>atT	p.I315I	ACOX2_ENST00000459701.2_Silent_p.I301I	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	315					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		AGCGCATGGCGATGACACAGG	0.617																																																	0													173.0	141.0	152.0					3																	58516240		2203	4300	6503	SO:0001819	synonymous_variant	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.945C>T	3.37:g.58516240G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF16|B2R8U5	Silent	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.I315	ENST00000302819.5	37	c.945	CCDS33775.1	3																																																																																			ACOX2	-	superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase		0.617	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	HGNC	protein_coding	OTTHUMT00000353541.1	G			58516240	-1	no_errors	ENST00000302819	ensembl	human	known	70_37	silent	SNP	0.998	A
ACTL10	170487	genome.wustl.edu	37	20	32256040	32256040	+	Nonstop_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:32256040G>C	ENST00000330271.4	+	1	1737	c.737G>C	c.(736-738)tGa>tCa	p.*246S	NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	ACL10_HUMAN	actin-like 10	0																	GTGTTCAACTGAGTCAGGCTG	0.607											OREG0025871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													28.0	33.0	31.0					20																	32256040		2196	4284	6480	SO:0001578	stop_lost	170487			AL121906	CCDS33463.1	20q11.22	2011-11-24	2011-11-24	2011-11-24	ENSG00000182584	ENSG00000182584			16127	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 134"""	C20orf134			Standard	NM_001024675		Approved		uc002wzt.3	Q5JWF8	OTTHUMG00000032262	ENST00000330271.4:c.737G>C	20.37:g.32256040G>C	ENSP00000329647:p.*246Serext*18	Somatic	831	WXS	Illumina HiSeq	Phase_IV	B9EH76	Nonstop_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.*246S	ENST00000330271.4	37	c.737	CCDS33463.1	20	.	.	.	.	.	.	.	.	.	.	g	14.58	2.578870	0.46006	.	.	ENSG00000182584	ENST00000330271	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7693	0.57410	0.0:0.0:1.0:0.0	.	.	.	.	S	246	.	.	X	+	2	2	C20orf134	31719701	1.000000	0.71417	0.995000	0.50966	0.861000	0.49209	3.029000	0.49712	2.386000	0.81285	0.457000	0.33378	TGA	ACTL10	-	NULL		0.607	ACTL10-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ACTL10	HGNC	protein_coding	OTTHUMT00000078713.1	G			32256040	+1	no_errors	ENST00000330271	ensembl	human	putative	70_37	nonstop	SNP	0.998	C
ACTN4	81	genome.wustl.edu	37	19	39219659	39219659	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:39219659C>T	ENST00000252699.2	+	20	2518	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	ACTN4_ENST00000424234.2_Silent_p.I424I|ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Silent_p.I595I	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	814	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCAACCGCATCATGAGCCTGG	0.637																																					Colon(168;199 1940 10254 46213 46384)												0													116.0	90.0	98.0					19																	39219659		2203	4300	6503	SO:0001819	synonymous_variant	81			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2442C>T	19.37:g.39219659C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4K467|D6PXK4|O76048	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.I814	ENST00000252699.2	37	c.2442	CCDS12518.1	19																																																																																			ACTN4	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.637	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	C			39219659	+1	no_errors	ENST00000252699	ensembl	human	known	70_37	silent	SNP	1.000	T
ACTN4	81	genome.wustl.edu	37	19	39219713	39219713	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:39219713C>T	ENST00000252699.2	+	20	2572	c.2496C>T	c.(2494-2496)atC>atT	p.I832I	ACTN4_ENST00000424234.2_Silent_p.I442I|ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Silent_p.I613I	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	832	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AAGCCTTCATCGACTTCATGT	0.607																																					Colon(168;199 1940 10254 46213 46384)												0													127.0	101.0	110.0					19																	39219713		2203	4300	6503	SO:0001819	synonymous_variant	81			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2496C>T	19.37:g.39219713C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4K467|D6PXK4|O76048	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.I832	ENST00000252699.2	37	c.2496	CCDS12518.1	19																																																																																			ACTN4	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.607	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	C			39219713	+1	no_errors	ENST00000252699	ensembl	human	known	70_37	silent	SNP	0.987	T
ACTN4	81	genome.wustl.edu	37	19	39219929	39219929	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:39219929G>T	ENST00000252699.2	+	21	2669	c.2593G>T	c.(2593-2595)Gag>Tag	p.E865*	ACTN4_ENST00000424234.2_Nonsense_Mutation_p.E475*|ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Nonsense_Mutation_p.E646*	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	865	Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CATCACAGCTGAGGAGCTGCG	0.687																																					Colon(168;199 1940 10254 46213 46384)												0													29.0	29.0	29.0					19																	39219929		2203	4297	6500	SO:0001587	stop_gained	81			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2593G>T	19.37:g.39219929G>T	ENSP00000252699:p.Glu865*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4K467|D6PXK4|O76048	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.E865*	ENST00000252699.2	37	c.2593	CCDS12518.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.775385	0.96922	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	.	.	.	3.62	3.62	0.41486	.	0.144445	0.44285	D	0.000471	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.5716	0.68216	0.0:0.0:1.0:0.0	.	.	.	.	X	865;475;646;296	.	ENSP00000252699:E865X	E	+	1	0	ACTN4	43911769	1.000000	0.71417	0.970000	0.41538	0.904000	0.53231	9.545000	0.98095	2.035000	0.60131	0.561000	0.74099	GAG	ACTN4	-	pfam_EF-hand_Ca_insen		0.687	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	G			39219929	+1	no_errors	ENST00000252699	ensembl	human	known	70_37	nonsense	SNP	0.999	T
ADAM10	102	genome.wustl.edu	37	15	59009816	59009816	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:59009816C>T	ENST00000260408.3	-	2	609	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	56					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AATTGGTCTTCATGTGAGACT	0.343																																																	0													157.0	136.0	143.0					15																	59009816		2192	4292	6484	SO:0001583	missense	102			AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.166G>A	15.37:g.59009816C>T	ENSP00000260408:p.Glu56Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DU28|Q10742|Q92650	Missense_Mutation	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.E56K	ENST00000260408.3	37	c.166	CCDS10167.1	15	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965811	0.74131	.	.	ENSG00000137845	ENST00000260408;ENST00000439637	T;T	0.05649	3.41;3.41	4.88	4.88	0.63580	Peptidase M12B, propeptide (1);	0.046679	0.85682	D	0.000000	T	0.07954	0.0199	L	0.40543	1.245	0.80722	D	1	B;B	0.29805	0.027;0.257	B;B	0.36030	0.038;0.216	T	0.10132	-1.0643	10	0.06236	T	0.91	-21.7657	18.3877	0.90472	0.0:1.0:0.0:0.0	.	56;56	A0AV88;O14672	.;ADA10_HUMAN	K	56	ENSP00000260408:E56K;ENSP00000391930:E56K	ENSP00000260408:E56K	E	-	1	0	ADAM10	56797108	0.993000	0.37304	1.000000	0.80357	0.995000	0.86356	2.879000	0.48522	2.402000	0.81655	0.563000	0.77884	GAA	ADAM10	-	pfam_Peptidase_M12B_N		0.343	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM10	HGNC	protein_coding	OTTHUMT00000255880.2	C	NM_001110		59009816	-1	no_errors	ENST00000260408	ensembl	human	known	70_37	missense	SNP	1.000	T
ADAMTS1	9510	genome.wustl.edu	37	21	28210431	28210431	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr21:28210431C>A	ENST00000284984.3	-	9	2825	c.2371G>T	c.(2371-2373)Gac>Tac	p.D791Y		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	791	Spacer.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TACATAATGTCTTGCTCTAAG	0.478																																																	0													79.0	67.0	71.0					21																	28210431		2203	4300	6503	SO:0001583	missense	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2371G>T	21.37:g.28210431C>A	ENSP00000284984:p.Asp791Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.D791Y	ENST00000284984.3	37	c.2371	CCDS33524.1	21	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531389	0.85706	.	.	ENSG00000154734	ENST00000284984	T	0.62788	-0.0	5.55	5.55	0.83447	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.80481	0.4631	M	0.79258	2.445	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	T	0.81163	-0.1058	9	0.66056	D	0.02	.	19.7069	0.96076	0.0:1.0:0.0:0.0	.	791	Q9UHI8	ATS1_HUMAN	Y	791	ENSP00000284984:D791Y	ENSP00000284984:D791Y	D	-	1	0	ADAMTS1	27132302	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.320000	0.79064	2.894000	0.99253	0.591000	0.81541	GAC	ADAMTS1	-	pfam_ADAM_spacer1		0.478	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	C			28210431	-1	no_errors	ENST00000284984	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAMTS14	140766	genome.wustl.edu	37	10	72462221	72462221	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:72462221G>A	ENST00000373207.1	+	3	676	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.E226K	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	226					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCTGCACAATGAAGGTAGGCT	0.617																																																	0													55.0	56.0	56.0					10																	72462221		2203	4300	6503	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.676G>A	10.37:g.72462221G>A	ENSP00000362303:p.Glu226Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.E226K	ENST00000373207.1	37	c.676	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541139	0.65085	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.61980	0.06;0.08	5.94	5.94	0.96194	.	0.180058	0.35646	N	0.003070	T	0.56601	0.1996	L	0.48362	1.52	0.52099	D	0.999948	B;B	0.20671	0.009;0.047	B;B	0.18561	0.009;0.022	T	0.51710	-0.8671	10	0.13470	T	0.59	.	19.1347	0.93422	0.0:0.0:1.0:0.0	.	226;226	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	K	226	ENSP00000362304:E226K;ENSP00000362303:E226K	ENSP00000362303:E226K	E	+	1	0	ADAMTS14	72132227	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.327000	0.79147	2.826000	0.97356	0.561000	0.74099	GAA	ADAMTS14	-	NULL		0.617	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	G	NM_080722		72462221	+1	no_errors	ENST00000373208	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAMTS16	170690	genome.wustl.edu	37	5	5306693	5306693	+	Missense_Mutation	SNP	G	G	A	rs374351561		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:5306693G>A	ENST00000274181.7	+	21	3401	c.3263G>A	c.(3262-3264)cGa>cAa	p.R1088Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1088	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGAAAGTATCGAGAGCTGGCC	0.488																																																	0								G	GLN/ARG	0,3850		0,0,1925	78.0	80.0	79.0		3263	4.6	0.2	5		79	1,8245		0,1,4122	no	missense	ADAMTS16	NM_139056.2	43	0,1,6047	AA,AG,GG		0.0121,0.0,0.0083	benign	1088/1225	5306693	1,12095	1925	4123	6048	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3263G>A	5.37:g.5306693G>A	ENSP00000274181:p.Arg1088Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1088Q	ENST00000274181.7	37	c.3263	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389971	0.25118	0.0	1.21E-4	ENSG00000145536	ENST00000274181	T	0.61040	0.14	5.51	4.61	0.57282	.	0.083854	0.53938	D	0.000051	T	0.40119	0.1104	L	0.41906	1.305	0.44061	D	0.996808	P	0.40731	0.728	B	0.30572	0.117	T	0.23833	-1.0177	10	0.13470	T	0.59	.	11.3249	0.49442	0.0:0.0:0.8181:0.1819	.	1088	Q8TE57	ATS16_HUMAN	Q	1088	ENSP00000274181:R1088Q	ENSP00000274181:R1088Q	R	+	2	0	ADAMTS16	5359693	0.876000	0.30132	0.172000	0.22920	0.060000	0.15804	2.636000	0.46545	1.262000	0.44165	0.561000	0.74099	CGA	ADAMTS16	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.488	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	G	NM_139056		5306693	+1	no_errors	ENST00000274181	ensembl	human	known	70_37	missense	SNP	0.918	A
ADAMTS4	9507	genome.wustl.edu	37	1	161166037	161166037	+	Silent	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:161166037G>C	ENST00000367996.5	-	3	1442	c.1014C>G	c.(1012-1014)gtC>gtG	p.V338V	ADAMTS4_ENST00000367995.3_3'UTR|ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	338	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.V338V(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CCGGGTCACAGACGGTGCCCA	0.567																																																	2	Substitution - coding silent(2)	urinary_tract(2)											93.0	87.0	89.0					1																	161166037		2203	4300	6503	SO:0001819	synonymous_variant	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1014C>G	1.37:g.161166037G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V338	ENST00000367996.5	37	c.1014	CCDS1223.1	1																																																																																			ADAMTS4	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.567	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS4	HGNC	protein_coding	OTTHUMT00000083066.2	G	NM_005099		161166037	-1	no_errors	ENST00000367996	ensembl	human	known	70_37	silent	SNP	1.000	C
ADCY9	115	genome.wustl.edu	37	16	4016390	4016390	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:4016390C>G	ENST00000294016.3	-	11	3986	c.3448G>C	c.(3448-3450)Gac>Cac	p.D1150H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1150	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)			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						TTGAAGTCGTCCACCACGCGC	0.632																																																	0													113.0	92.0	99.0					16																	4016390		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.3448G>C	16.37:g.4016390C>G	ENSP00000294016:p.Asp1150His	Somatic		WXS	Illumina HiSeq	Phase_IV	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.D1150H	ENST00000294016.3	37	c.3448	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982166	0.74474	.	.	ENSG00000162104	ENST00000294016	T	0.81078	-1.45	5.52	4.54	0.55810	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.86707	0.5997	L	0.52126	1.63	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.87810	0.2631	10	0.62326	D	0.03	.	15.7648	0.78117	0.1375:0.8625:0.0:0.0	.	1150	O60503	ADCY9_HUMAN	H	1150	ENSP00000294016:D1150H	ENSP00000294016:D1150H	D	-	1	0	ADCY9	3956391	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.776000	0.85560	1.399000	0.46721	0.655000	0.94253	GAC	ADCY9	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.632	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	C			4016390	-1	no_errors	ENST00000294016	ensembl	human	known	70_37	missense	SNP	1.000	G
ADAT1	23536	genome.wustl.edu	37	16	75642774	75642774	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:75642774C>G	ENST00000307921.3	-	8	1301	c.1156G>C	c.(1156-1158)Gat>Cat	p.D386H	RP11-77K12.8_ENST00000564489.1_RNA	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	386	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CCTGGGCTATCAGCCCTTTTT	0.512																																																	0													80.0	72.0	75.0					16																	75642774		2198	4300	6498	SO:0001583	missense	23536			AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1156G>C	16.37:g.75642774C>G	ENSP00000310015:p.Asp386His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NVB7|Q9UNG3	Missense_Mutation	SNP	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	p.D386H	ENST00000307921.3	37	c.1156	CCDS10922.1	16	.	.	.	.	.	.	.	.	.	.	C	6.540	0.467950	0.12402	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.94046	-3.34	6.04	3.77	0.43336	Adenosine deaminase/editase (3);	0.972870	0.08559	N	0.927792	D	0.91620	0.7352	L	0.61218	1.895	0.09310	N	1	B	0.24768	0.111	B	0.23275	0.045	D	0.83404	0.0024	10	0.42905	T	0.14	-0.028	10.5969	0.45343	0.0:0.7876:0.0:0.2124	.	386	Q9BUB4	ADAT1_HUMAN	H	386;357	ENSP00000310015:D386H	ENSP00000310015:D386H	D	-	1	0	ADAT1	74200275	0.213000	0.23551	0.045000	0.18777	0.282000	0.26991	1.287000	0.33284	1.557000	0.49525	0.563000	0.77884	GAT	ADAT1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin		0.512	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAT1	HGNC	protein_coding	OTTHUMT00000269027.1	C	NM_012091		75642774	-1	no_errors	ENST00000307921	ensembl	human	known	70_37	missense	SNP	0.008	G
AGPAT6	137964	genome.wustl.edu	37	8	41469775	41469775	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr8:41469775G>A	ENST00000396987.3	+	7	1705	c.778G>A	c.(778-780)Gat>Aat	p.D260N	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	260					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			CTTGGCCAGCGATGGCTATTA	0.502																																																	0													141.0	122.0	129.0					8																	41469775		2203	4300	6503	SO:0001583	missense	137964			AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20880	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, zeta"""	608143	"""1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"""			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.778G>A	8.37:g.41469775G>A	ENSP00000380184:p.Asp260Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86V89	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.D260N	ENST00000396987.3	37	c.778	CCDS6117.1	8	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918841	0.92249	.	.	ENSG00000158669	ENST00000396987	D	0.93133	-3.17	5.03	5.03	0.67393	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.94823	0.8328	M	0.81942	2.565	0.80722	D	1	B	0.32620	0.378	B	0.41646	0.362	D	0.95035	0.8173	10	0.87932	D	0	.	17.5492	0.87871	0.0:0.0:1.0:0.0	.	260	Q86UL3	GPAT4_HUMAN	N	260	ENSP00000380184:D260N	ENSP00000380184:D260N	D	+	1	0	AGPAT6	41588932	1.000000	0.71417	0.755000	0.31263	0.961000	0.63080	9.612000	0.98347	2.620000	0.88729	0.655000	0.94253	GAT	AGPAT6	-	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase		0.502	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT6	HGNC	protein_coding	OTTHUMT00000377158.1	G	NM_178819		41469775	+1	no_errors	ENST00000396987	ensembl	human	known	70_37	missense	SNP	1.000	A
AIMP2	7965	genome.wustl.edu	37	7	6054882	6054882	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr7:6054882C>G	ENST00000223029.3	+	2	360	c.241C>G	c.(241-243)Caa>Gaa	p.Q81E	AIMP2_ENST00000400479.2_Missense_Mutation_p.Q3E|AIMP2_ENST00000395236.2_Intron|SNORA42_ENST00000384488.1_RNA	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	81					apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CAAGATGATTCAAACACCAGA	0.458																																																	0													148.0	140.0	143.0					7																	6054882		2203	4300	6503	SO:0001583	missense	7965			U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.241C>G	7.37:g.6054882C>G	ENSP00000223029:p.Gln81Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q75MR1|Q96CZ5|Q9P1L2	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like	p.Q81E	ENST00000223029.3	37	c.241	CCDS5344.1	7	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919772	0.52653	.	.	ENSG00000106305	ENST00000223029;ENST00000400479	T;T	0.31769	1.48;1.54	5.27	5.27	0.74061	.	0.176817	0.50627	D	0.000110	T	0.36744	0.0978	M	0.68317	2.08	0.80722	D	1	B	0.20261	0.043	B	0.26770	0.073	T	0.17961	-1.0352	10	0.20046	T	0.44	-10.4979	18.9292	0.92558	0.0:1.0:0.0:0.0	.	81	Q13155	AIMP2_HUMAN	E	81;3	ENSP00000223029:Q81E;ENSP00000383327:Q3E	ENSP00000223029:Q81E	Q	+	1	0	AIMP2	6021408	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.315000	0.59172	2.461000	0.83175	0.655000	0.94253	CAA	AIMP2	-	NULL		0.458	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIMP2	HGNC	protein_coding	OTTHUMT00000242834.2	C	NM_006303		6054882	+1	no_errors	ENST00000223029	ensembl	human	known	70_37	missense	SNP	1.000	G
AKAP1	8165	genome.wustl.edu	37	17	55183327	55183327	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:55183327G>C	ENST00000337714.3	+	2	735	c.502G>C	c.(502-504)Gat>Cat	p.D168H	AKAP1_ENST00000314126.3_Missense_Mutation_p.D168H|AKAP1_ENST00000571629.1_Missense_Mutation_p.D168H|AKAP1_ENST00000539273.1_Missense_Mutation_p.D168H|AKAP1_ENST00000572557.1_Missense_Mutation_p.D168H	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	168					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GTGTAAGCAAGATTCCCCCTT	0.567																																																	0													77.0	79.0	79.0					17																	55183327		2203	4300	6503	SO:0001583	missense	8165			X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.502G>C	17.37:g.55183327G>C	ENSP00000337736:p.Asp168His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1	p.D168H	ENST00000337714.3	37	c.502	CCDS11594.1	17	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654430	0.47467	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.13420	2.59;2.59;2.59	5.93	5.93	0.95920	.	0.332844	0.35970	N	0.002880	T	0.07954	0.0199	N	0.08118	0	0.09310	N	1	P	0.37955	0.612	B	0.34590	0.186	T	0.27331	-1.0077	10	0.87932	D	0	-12.9542	12.7688	0.57408	0.0769:0.0:0.9231:0.0	.	168	Q92667	AKAP1_HUMAN	H	168;168;210;168	ENSP00000337736:D168H;ENSP00000314075:D168H;ENSP00000443139:D168H	ENSP00000314075:D168H	D	+	1	0	AKAP1	52538326	0.973000	0.33851	0.341000	0.25589	0.171000	0.22731	3.206000	0.51098	2.826000	0.97356	0.655000	0.94253	GAT	AKAP1	-	NULL		0.567	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP1	HGNC	protein_coding	OTTHUMT00000277069.1	G			55183327	+1	no_errors	ENST00000337714	ensembl	human	known	70_37	missense	SNP	0.126	C
AMOTL1	154810	genome.wustl.edu	37	11	94533423	94533423	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:94533423G>A	ENST00000433060.2	+	3	1208	c.1067G>A	c.(1066-1068)aGa>aAa	p.R356K	AMOTL1_ENST00000317837.9_Missense_Mutation_p.R356K|AMOTL1_ENST00000317829.8_Missense_Mutation_p.R306K	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	356					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CAGCCTGTGAGAACAGATGTG	0.552																																																	0													97.0	99.0	98.0					11																	94533423		2002	4163	6165	SO:0001583	missense	154810			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1067G>A	11.37:g.94533423G>A	ENSP00000387739:p.Arg356Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.R356K	ENST00000433060.2	37	c.1067	CCDS44712.1	11	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139484	0.56936	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.09538	2.97;2.97;2.97	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.29028	0.0721	M	0.79926	2.475	0.40968	D	0.984673	D;D	0.63880	0.988;0.993	P;P	0.53062	0.717;0.708	T	0.09015	-1.0694	9	.	.	.	-20.976	18.5608	0.91100	0.0:0.0:1.0:0.0	.	306;356	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	K	306;362;356;356	ENSP00000320968:R306K;ENSP00000323474:R356K;ENSP00000387739:R356K	.	R	+	2	0	AMOTL1	94173071	0.996000	0.38824	0.974000	0.42286	0.859000	0.49053	4.871000	0.63042	2.395000	0.81488	0.555000	0.69702	AGA	AMOTL1	-	NULL		0.552	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	G	NM_130847		94533423	+1	no_errors	ENST00000433060	ensembl	human	known	70_37	missense	SNP	0.987	A
ANKS6	203286	genome.wustl.edu	37	9	101546366	101546366	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:101546366C>T	ENST00000353234.4	-	4	1028	c.981G>A	c.(979-981)gcG>gcA	p.A327A	ANKS6_ENST00000375018.1_Silent_p.A327A|ANKS6_ENST00000375019.2_Silent_p.A26A|ANKS6_ENST00000540940.1_Silent_p.A132A			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	327						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCAGTGGCGTCGCCCCGTCCC	0.597																																																	0													62.0	68.0	66.0					9																	101546366		2156	4251	6407	SO:0001819	synonymous_variant	203286			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.981G>A	9.37:g.101546366C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.A327	ENST00000353234.4	37	c.981	CCDS43856.1	9																																																																																			ANKS6	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.597	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKS6	HGNC	protein_coding	OTTHUMT00000277053.1	C	NM_173551		101546366	-1	no_errors	ENST00000375018	ensembl	human	known	70_37	silent	SNP	0.206	T
ANO6	196527	genome.wustl.edu	37	12	45725117	45725117	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:45725117G>A	ENST00000320560.8	+	3	392	c.190G>A	c.(190-192)Gat>Aat	p.D64N	ANO6_ENST00000435642.1_Missense_Mutation_p.D64N|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.D64N|ANO6_ENST00000423947.3_Missense_Mutation_p.D85N|ANO6_ENST00000441606.2_Missense_Mutation_p.D46N	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	64					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTTTTTAATGATGGCCAGCG	0.294																																																	0													66.0	70.0	69.0					12																	45725117		2203	4298	6501	SO:0001583	missense	196527			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.190G>A	12.37:g.45725117G>A	ENSP00000320087:p.Asp64Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.D64N	ENST00000320560.8	37	c.190	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035109	0.93575	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.85031	0.5604	M	0.88512	2.96	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.994;0.996;0.975	D	0.87449	0.2400	10	0.87932	D	0	.	18.3196	0.90232	0.0:0.0:1.0:0.0	.	46;85;64;64	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	N	64;85;64;64;46	ENSP00000391417:D64N;ENSP00000409126:D85N;ENSP00000413840:D64N;ENSP00000320087:D64N;ENSP00000413137:D46N	ENSP00000320087:D64N	D	+	1	0	ANO6	44011384	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.638000	0.83328	2.793000	0.96121	0.591000	0.81541	GAT	ANO6	-	NULL		0.294	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404822.1	G	XM_113743		45725117	+1	no_errors	ENST00000425752	ensembl	human	known	70_37	missense	SNP	1.000	A
ANO6	196527	genome.wustl.edu	37	12	45725130	45725130	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:45725130G>A	ENST00000320560.8	+	3	405	c.203G>A	c.(202-204)aGa>aAa	p.R68K	ANO6_ENST00000435642.1_Missense_Mutation_p.R68K|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.R68K|ANO6_ENST00000423947.3_Missense_Mutation_p.R89K|ANO6_ENST00000441606.2_Missense_Mutation_p.R50K	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	68					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GGCCAGCGAAGAATTGACTTT	0.294																																																	0													70.0	75.0	73.0					12																	45725130		2203	4299	6502	SO:0001583	missense	196527			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.203G>A	12.37:g.45725130G>A	ENSP00000320087:p.Arg68Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.R68K	ENST00000320560.8	37	c.203	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872826	0.51695	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.17	5.17	0.71159	.	0.051200	0.85682	D	0.000000	T	0.48333	0.1494	L	0.27975	0.815	0.53688	D	0.999973	B;B;B;B	0.28512	0.196;0.093;0.214;0.042	B;B;B;B	0.24269	0.047;0.047;0.031;0.052	T	0.41662	-0.9496	10	0.11794	T	0.64	.	18.3196	0.90232	0.0:0.0:1.0:0.0	.	50;89;68;68	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	K	68;89;68;68;50	ENSP00000391417:R68K;ENSP00000409126:R89K;ENSP00000413840:R68K;ENSP00000320087:R68K;ENSP00000413137:R50K	ENSP00000320087:R68K	R	+	2	0	ANO6	44011397	1.000000	0.71417	0.996000	0.52242	0.929000	0.56500	5.909000	0.69923	2.793000	0.96121	0.591000	0.81541	AGA	ANO6	-	NULL		0.294	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404822.1	G	XM_113743		45725130	+1	no_errors	ENST00000425752	ensembl	human	known	70_37	missense	SNP	1.000	A
APBB1IP	54518	genome.wustl.edu	37	10	26856371	26856371	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:26856371C>G	ENST00000376236.4	+	15	2410	c.1955C>G	c.(1954-1956)tCa>tGa	p.S652*		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	652					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GATTTCATGTCAGACCTCATG	0.627																																																	0													48.0	45.0	46.0					10																	26856371		2203	4300	6503	SO:0001587	stop_gained	54518			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1955C>G	10.37:g.26856371C>G	ENSP00000365411:p.Ser652*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IWS8|Q8IYL7|Q8IZZ7	Nonsense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc	p.S652*	ENST00000376236.4	37	c.1955	CCDS31167.1	10	.	.	.	.	.	.	.	.	.	.	C	41	9.022907	0.99038	.	.	ENSG00000077420	ENST00000376236	.	.	.	5.47	5.47	0.80525	.	0.122752	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9019	0.88906	0.0:1.0:0.0:0.0	.	.	.	.	X	652	.	ENSP00000365411:S652X	S	+	2	0	APBB1IP	26896377	1.000000	0.71417	0.970000	0.41538	0.401000	0.30781	6.077000	0.71275	2.579000	0.87056	0.655000	0.94253	TCA	APBB1IP	-	NULL		0.627	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	APBB1IP	HGNC	protein_coding	OTTHUMT00000047270.1	C	NM_019043		26856371	+1	no_errors	ENST00000376236	ensembl	human	known	70_37	nonsense	SNP	1.000	G
APOB	338	genome.wustl.edu	37	2	21233619	21233619	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:21233619C>G	ENST00000233242.1	-	26	6248	c.6121G>C	c.(6121-6123)Gag>Cag	p.E2041Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2041					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCTCATCTCTAAAGCATCA	0.403																																																	0													105.0	110.0	108.0					2																	21233619		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6121G>C	2.37:g.21233619C>G	ENSP00000233242:p.Glu2041Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.E2041Q	ENST00000233242.1	37	c.6121	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	9.079	0.998784	0.19121	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00784	5.7	5.32	2.4	0.29515	.	0.468333	0.18191	N	0.148806	T	0.00906	0.0030	L	0.60455	1.87	0.19575	N	0.999969	B	0.14438	0.01	B	0.09377	0.004	T	0.48479	-0.9032	10	0.27785	T	0.31	.	3.5907	0.07987	0.1386:0.5813:0.1339:0.1462	.	2041	P04114	APOB_HUMAN	Q	2041	ENSP00000233242:E2041Q	ENSP00000233242:E2041Q	E	-	1	0	APOB	21087124	0.000000	0.05858	0.004000	0.12327	0.843000	0.47879	0.030000	0.13688	0.185000	0.20105	0.561000	0.74099	GAG	APOB	-	NULL		0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21233619	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.002	G
AQP10	89872	genome.wustl.edu	37	1	154296858	154296858	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:154296858G>A	ENST00000324978.3	+	6	848	c.808G>A	c.(808-810)Gag>Aag	p.E270K	ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000484864.1_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	270					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCACCACCCTGAGGGCCCAGA	0.592											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													67.0	67.0	67.0					1																	154296858		2203	4300	6503	SO:0001583	missense	89872			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.808G>A	1.37:g.154296858G>A	ENSP00000318355:p.Glu270Lys	Somatic	1762	WXS	Illumina HiSeq	Phase_IV	Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP	p.E270K	ENST00000324978.3	37	c.808	CCDS1065.1	1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327621	0.60743	.	.	ENSG00000143595	ENST00000324978	D	0.84146	-1.81	4.46	4.46	0.54185	.	0.502393	0.20755	N	0.086261	T	0.57975	0.2090	N	0.08118	0	0.80722	D	1	P	0.44195	0.828	B	0.41764	0.366	T	0.67601	-0.5629	10	0.06625	T	0.88	.	16.2732	0.82630	0.0:0.0:1.0:0.0	.	270	Q96PS8	AQP10_HUMAN	K	270	ENSP00000318355:E270K	ENSP00000318355:E270K	E	+	1	0	AQP10	152563482	0.970000	0.33590	0.936000	0.37596	0.355000	0.29361	3.641000	0.54360	2.510000	0.84645	0.555000	0.69702	GAG	AQP10	-	NULL		0.592	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP10	HGNC	protein_coding	OTTHUMT00000087661.1	G	NM_080429		154296858	+1	no_errors	ENST00000324978	ensembl	human	known	70_37	missense	SNP	1.000	A
AQP8	343	genome.wustl.edu	37	16	25232864	25232864	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:25232864C>T	ENST00000219660.5	+	3	472	c.347C>T	c.(346-348)tCa>tTa	p.S116L	AQP8_ENST00000566125.1_Missense_Mutation_p.S110L	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	116					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		TACTGGGTCTCACAGCTGCTC	0.627																																																	0													90.0	82.0	85.0					16																	25232864		2197	4300	6497	SO:0001583	missense	343			BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.347C>T	16.37:g.25232864C>T	ENSP00000219660:p.Ser116Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IUU3|Q9UIA4	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP	p.S116L	ENST00000219660.5	37	c.347	CCDS10626.1	16	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276788	0.40294	.	.	ENSG00000103375	ENST00000219660	D	0.93019	-3.15	5.63	3.61	0.41365	Aquaporin-like (2);	0.404206	0.29692	N	0.011451	D	0.93769	0.8008	M	0.87547	2.89	0.44012	D	0.99672	B	0.22541	0.071	B	0.23716	0.048	D	0.91334	0.5092	10	0.87932	D	0	-13.4334	14.3825	0.66921	0.0:0.5371:0.4629:0.0	.	116	O94778	AQP8_HUMAN	L	116	ENSP00000219660:S116L	ENSP00000219660:S116L	S	+	2	0	AQP8	25140365	0.013000	0.17824	0.973000	0.42090	0.316000	0.28119	1.023000	0.30065	0.674000	0.31244	-0.176000	0.13171	TCA	AQP8	-	pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP		0.627	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP8	HGNC	protein_coding	OTTHUMT00000214102.2	C	NM_001169		25232864	+1	no_errors	ENST00000219660	ensembl	human	known	70_37	missense	SNP	1.000	T
ARFGAP1	55738	genome.wustl.edu	37	20	61918992	61918992	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:61918992G>A	ENST00000370283.4	+	13	1128	c.988G>A	c.(988-990)Gag>Aag	p.E330K	ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E338K|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.E285K|ARFGAP1_ENST00000370275.4_3'UTR|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.E264K|MIR4326_ENST00000582203.1_RNA|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.E217K	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	330					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GAGCTTCTGGGAGACCTTTGG	0.592																																																	0													44.0	44.0	44.0					20																	61918992		2200	4298	6498	SO:0001583	missense	55738			AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.988G>A	20.37:g.61918992G>A	ENSP00000359306:p.Glu330Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.E338K	ENST00000370283.4	37	c.1012	CCDS13515.1	20	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298787	0.81025	.	.	ENSG00000101199	ENST00000370283;ENST00000547204;ENST00000549047;ENST00000523460;ENST00000519604;ENST00000519273;ENST00000353546	T;T;T;T;T;T	0.55413	1.33;0.65;0.57;0.67;0.52;1.2	4.95	4.95	0.65309	.	0.165435	0.52532	D	0.000065	T	0.72326	0.3446	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.76494	0.99;0.998;0.999;0.999	D;D;D;D	0.79784	0.979;0.993;0.937;0.991	T	0.74247	-0.3727	10	0.52906	T	0.07	-15.8507	18.5602	0.91097	0.0:0.0:1.0:0.0	.	217;285;330;338	B7Z8H8;E7EV62;Q8N6T3;Q8N6T3-2	.;.;ARFG1_HUMAN;.	K	330;264;256;86;285;217;338	ENSP00000359306:E330K;ENSP00000449800:E264K;ENSP00000447037:E256K;ENSP00000430500:E285K;ENSP00000443716:E217K;ENSP00000314615:E338K	ENSP00000314615:E338K	E	+	1	0	ARFGAP1	61389437	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	8.247000	0.89830	2.449000	0.82847	0.462000	0.41574	GAG	ARFGAP1	-	NULL		0.592	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGAP1	HGNC	protein_coding	OTTHUMT00000080134.3	G	NM_018209		61918992	+1	no_errors	ENST00000353546	ensembl	human	known	70_37	missense	SNP	1.000	A
ARHGEF3	50650	genome.wustl.edu	37	3	56766438	56766438	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:56766438G>A	ENST00000296315.3	-	9	1224	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	ARHGEF3_ENST00000497267.1_Silent_p.F323F|ARHGEF3_ENST00000413728.2_Silent_p.F358F|ARHGEF3_ENST00000496106.1_Silent_p.F358F|ARHGEF3_ENST00000338458.4_Silent_p.F384F|ARHGEF3_ENST00000495373.1_Silent_p.F352F	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	352	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CTTGGAACAGGAAAACATGCA	0.463																																																	0													98.0	101.0	100.0					3																	56766438		2203	4300	6503	SO:0001819	synonymous_variant	50650			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.1056C>T	3.37:g.56766438G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.F384	ENST00000296315.3	37	c.1152	CCDS2878.1	3																																																																																			ARHGEF3	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.463	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF3	HGNC	protein_coding	OTTHUMT00000352431.2	G	NM_019555		56766438	-1	no_errors	ENST00000338458	ensembl	human	known	70_37	silent	SNP	1.000	A
ARID1A	8289	genome.wustl.edu	37	1	27059194	27059194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:27059194C>T	ENST00000324856.7	+	4	2202	c.1831C>T	c.(1831-1833)Cag>Tag	p.Q611*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q611*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q228*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	611					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATTTGGGTCTCAGGCATCCTC	0.478			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													135.0	119.0	125.0					1																	27059194		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1831C>T	1.37:g.27059194C>T	ENSP00000320485:p.Gln611*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q611*	ENST00000324856.7	37	c.1831	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.910370	0.97928	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-6.0683	19.8172	0.96573	0.0:1.0:0.0:0.0	.	.	.	.	X	611;611;228	.	ENSP00000320485:Q611X	Q	+	1	0	ARID1A	26931781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.905000	0.75714	2.702000	0.92279	0.491000	0.48974	CAG	ARID1A	-	NULL		0.478	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27059194	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ARID1A	8289	genome.wustl.edu	37	1	27100988	27100988	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:27100988C>T	ENST00000324856.7	+	18	4641	c.4270C>T	c.(4270-4272)Cag>Tag	p.Q1424*	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1041*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1424					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q1424*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTTCCCCTCAGCAAGATGT	0.622			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Nonsense(1)	breast(1)											66.0	64.0	65.0					1																	27100988		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4270C>T	1.37:g.27100988C>T	ENSP00000320485:p.Gln1424*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q1424*	ENST00000324856.7	37	c.4270	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.038871|10.038871	0.99323|0.99323	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000374152|ENST00000430799	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.051697|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71467	.|0.3343	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68610	.|-0.5363	.|4	0.49607|.	T|.	0.09|.	-6.4226|-6.4226	15.208|15.208	0.73195|0.73195	0.0:0.86:0.14:0.0|0.0:0.86:0.14:0.0	.|.	.|.	.|.	.|.	X|L	1424;1041|320	.|.	ENSP00000320485:Q1424X|.	Q|S	+|+	1|2	0|0	ARID1A|ARID1A	26973575|26973575	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.908000|3.908000	0.56355|0.56355	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CAG|TCA	ARID1A	-	NULL		0.622	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27100988	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ASH1L	55870	genome.wustl.edu	37	1	155319338	155319338	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:155319338C>T	ENST00000368346.3	-	18	8070	c.7431G>A	c.(7429-7431)aaG>aaA	p.K2477K	ASH1L_ENST00000392403.3_Silent_p.K2472K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2477	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTACTTTTTCTTTGGGGGAA	0.438																																																	0													61.0	59.0	60.0					1																	155319338		2203	4300	6503	SO:0001819	synonymous_variant	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7431G>A	1.37:g.155319338C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.K2477	ENST00000368346.3	37	c.7431		1																																																																																			ASH1L	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain		0.438	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	C	NM_018489		155319338	-1	no_errors	ENST00000368346	ensembl	human	known	70_37	silent	SNP	1.000	T
ATAD2	29028	genome.wustl.edu	37	8	124383164	124383164	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr8:124383164C>T	ENST00000287394.5	-	6	813	c.706G>A	c.(706-708)Gat>Aat	p.D236N	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	236					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTTGATTATCAGTTGTTTCT	0.303																																																	0													166.0	153.0	158.0					8																	124383164		2202	4300	6502	SO:0001583	missense	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.706G>A	8.37:g.124383164C>T	ENSP00000287394:p.Asp236Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.D236N	ENST00000287394.5	37	c.706	CCDS6343.1	8	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668299	0.67814	.	.	ENSG00000156802	ENST00000287394	T	0.28895	1.59	5.32	5.32	0.75619	.	0.809322	0.12083	N	0.501132	T	0.46367	0.1389	L	0.48362	1.52	0.80722	D	1	D;D	0.63046	0.981;0.992	P;P	0.58210	0.744;0.835	T	0.13229	-1.0517	10	0.31617	T	0.26	-19.9741	17.7784	0.88516	0.0:1.0:0.0:0.0	.	66;236	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	N	236	ENSP00000287394:D236N	ENSP00000287394:D236N	D	-	1	0	ATAD2	124452345	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.671000	0.54576	2.492000	0.84095	0.484000	0.47621	GAT	ATAD2	-	NULL		0.303	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	C	NM_014109		124383164	-1	no_errors	ENST00000287394	ensembl	human	known	70_37	missense	SNP	1.000	T
ATAD3B	83858	genome.wustl.edu	37	1	1421179	1421179	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:1421179C>T	ENST00000308647.7	+	9	1040	c.924C>T	c.(922-924)ctC>ctT	p.L308L		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	308						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCGGCTCCTCAGTCGACCCC	0.667																																																	0													51.0	50.0	50.0					1																	1421179		2203	4296	6499	SO:0001819	synonymous_variant	83858			AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.924C>T	1.37:g.1421179C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.L308	ENST00000308647.7	37	c.924	CCDS30.1	1																																																																																			ATAD3B	-	NULL		0.667	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3B	HGNC	protein_coding	OTTHUMT00000001369.2	C	NM_031921		1421179	+1	no_errors	ENST00000308647	ensembl	human	known	70_37	silent	SNP	0.856	T
ATF4	468	genome.wustl.edu	37	22	39918236	39918236	+	Missense_Mutation	SNP	C	C	G	rs547982920		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr22:39918236C>G	ENST00000337304.2	+	2	1567	c.685C>G	c.(685-687)Ctg>Gtg	p.L229V	ATF4_ENST00000404241.2_Missense_Mutation_p.L229V|ATF4_ENST00000396680.1_Missense_Mutation_p.L229V	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	229					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	AGAGTCCTATCTGGGGTCTCC	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19009	0.0		0.0	False		,,,				2504	0.0																0													26.0	25.0	25.0					22																	39918236		2202	4300	6502	SO:0001583	missense	468			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.685C>G	22.37:g.39918236C>G	ENSP00000336790:p.Leu229Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UH31	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.L229V	ENST00000337304.2	37	c.685	CCDS13996.1	22	.	.	.	.	.	.	.	.	.	.	C	0.689	-0.795352	0.02862	.	.	ENSG00000128272	ENST00000404241;ENST00000337304;ENST00000396680	T;T;T	0.25579	1.79;1.79;1.79	5.24	-0.337	0.12654	.	0.391828	0.24236	N	0.040302	T	0.19087	0.0458	L	0.41236	1.265	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.24799	-1.0150	10	0.87932	D	0	-11.1708	10.0693	0.42324	0.0:0.4296:0.0:0.5704	.	229	P18848	ATF4_HUMAN	V	229	ENSP00000384587:L229V;ENSP00000336790:L229V;ENSP00000379912:L229V	ENSP00000336790:L229V	L	+	1	2	ATF4	38248182	0.000000	0.05858	0.000000	0.03702	0.499000	0.33736	-0.506000	0.06359	-0.014000	0.14175	-0.448000	0.05591	CTG	ATF4	-	NULL		0.537	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATF4	HGNC	protein_coding	OTTHUMT00000321305.1	C	NM_001675		39918236	+1	no_errors	ENST00000337304	ensembl	human	known	70_37	missense	SNP	0.000	G
ATM	472	genome.wustl.edu	37	11	108160402	108160402	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:108160402G>A	ENST00000452508.2	+	30	4499	c.4310G>A	c.(4309-4311)aGa>aAa	p.R1437K	ATM_ENST00000278616.4_Missense_Mutation_p.R1437K			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1437					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAGAAGCACAGAATTCTTAAA	0.313			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													54.0	57.0	56.0					11																	108160402		2201	4295	6496	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4310G>A	11.37:g.108160402G>A	ENSP00000388058:p.Arg1437Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R1437K	ENST00000452508.2	37	c.4310	CCDS31669.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.517824|4.517824	0.85495|0.85495	.|.	.|.	ENSG00000149311|ENSG00000149311	ENST00000531525|ENST00000278616;ENST00000452508;ENST00000389511	.|T;T	.|0.01665	.|4.7;4.7	5.36|5.36	5.36|5.36	0.76844|0.76844	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.09949|0.09949	0.0244|0.0244	M|M	0.65498|0.65498	2.005|2.005	0.58432|0.58432	D|D	0.999996|0.999996	.|D;P	.|0.67145	.|0.996;0.917	.|D;B	.|0.76071	.|0.987;0.32	T|T	0.03795|0.03795	-1.1003|-1.1003	5|10	.|0.40728	.|T	.|0.16	.|.	19.4348|19.4348	0.94786|0.94786	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|89;1437	.|E7EV38;Q13315	.|.;ATM_HUMAN	K|K	107|1437;1437;89	.|ENSP00000278616:R1437K;ENSP00000388058:R1437K	.|ENSP00000278616:R1437K	E|R	+|+	1|2	0|0	ATM|ATM	107665612|107665612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.563000|9.563000	0.98148|0.98148	2.663000|2.663000	0.90544|0.90544	0.650000|0.650000	0.86243|0.86243	GAA|AGA	ATM	-	superfamily_ARM-type_fold		0.313	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	G	NM_000051		108160402	+1	no_errors	ENST00000278616	ensembl	human	known	70_37	missense	SNP	1.000	A
ATF4P4	100127952	genome.wustl.edu	37	11	113661424	113661424	+	RNA	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:113661424G>A	ENST00000393544.2	+	0	1472									activating transcription factor 4 pseudogene 4																		CCTAGTCCAGGAGACTAATAA	0.498																																																	0																																												100127952					11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113661424G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000393544.2	37	NULL		11																																																																																			ATF4P4	-	-		0.498	ATF4P4-002	KNOWN	basic	processed_transcript	ATF4P4	HGNC	pseudogene	OTTHUMT00000398707.1	G	NG_021835		113661424	+1	no_errors	ENST00000393544	ensembl	human	known	70_37	rna	SNP	0.686	A
ATP5L2	267020	genome.wustl.edu	37	22	43036172	43036172	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr22:43036172C>T	ENST00000505920.1	-	1	435	c.109G>A	c.(109-111)Gag>Aag	p.E37K	CYB5R3_ENST00000352397.5_Intron|CYB5R3_ENST00000361740.4_Intron|CYB5R3_ENST00000402438.1_Intron|CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000396303.3_Intron	NM_001165877.1	NP_001159349.1	Q7Z4Y8	AT5L2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2	37					ATP synthesis coupled proton transport (GO:0015986)	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(1)|kidney(1)	2						GGAACCAGCTCAACCGTGGTG	0.498																																																	0													134.0	103.0	112.0					22																	43036172		692	1591	2283	SO:0001583	missense	267020			AF092923	CCDS54534.1	22q13.2	2012-10-12	2010-06-11		ENSG00000249222	ENSG00000249222		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	13213	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F1F0, subunit g"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2 pseudogene"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2"""	ATP5K2			Standard	NM_001165877		Approved	dJ222E13.5	uc003bda.1	Q7Z4Y8	OTTHUMG00000150890	ENST00000505920.1:c.109G>A	22.37:g.43036172C>T	ENSP00000421076:p.Glu37Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_ATPase_F0-cplx_gsu_mt,pirsf_ATP-Synthase_su_G_mt_met	p.E37K	ENST00000505920.1	37	c.109	CCDS54534.1	22	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372774	0.42003	.	.	ENSG00000249222	ENST00000505920	.	.	.	2.19	1.15	0.20763	.	.	.	.	.	T	0.61664	0.2365	M	0.67517	2.055	0.80722	D	1	.	.	.	.	.	.	T	0.61123	-0.7126	6	0.62326	D	0.03	.	7.0327	0.24977	0.0:0.8482:0.0:0.1518	.	.	.	.	K	37	.	ENSP00000421076:E37K	E	-	1	0	ATP5L2	41366116	1.000000	0.71417	0.974000	0.42286	0.193000	0.23685	4.607000	0.61133	0.498000	0.27948	0.609000	0.83330	GAG	ATP5L2	-	pfam_ATPase_F0-cplx_gsu_mt,pirsf_ATP-Synthase_su_G_mt_met		0.498	ATP5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5L2	HGNC	protein_coding	OTTHUMT00000320450.2	C	NM_001165877		43036172	-1	no_errors	ENST00000505920	ensembl	human	known	70_37	missense	SNP	1.000	T
ATP8B2	57198	genome.wustl.edu	37	1	154310131	154310131	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:154310131C>T	ENST00000368487.3	+	12	1332	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	ATP8B2_ENST00000368489.3_Intron|ATP8B2_ENST00000426445.1_Intron|RNU7-57P_ENST00000459540.1_RNA|ATP8B2_ENST00000341822.2_Intron	NM_001005855.1	NP_001005855.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	425					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCTCTTCTTCCTGTACTGTA	0.413																																																	0													75.0	79.0	77.0					1																	154310131		2203	4300	6503	SO:0001583	missense	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368487.3:c.1145C>T	1.37:g.154310131C>T	ENSP00000357472:p.Ser382Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom	p.S382F	ENST00000368487.3	37	c.1145	CCDS41405.1	1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479716	0.44044	.	.	ENSG00000143515	ENST00000368487	T	0.04551	3.6	4.78	-5.23	0.02798	.	.	.	.	.	T	0.00998	0.0033	.	.	.	0.09310	N	1	P	0.38110	0.618	B	0.33196	0.159	T	0.45804	-0.9236	8	0.87932	D	0	.	3.4021	0.07327	0.1257:0.1871:0.1241:0.563	.	382	P98198-4	.	F	382	ENSP00000357472:S382F	ENSP00000357472:S382F	S	+	2	0	ATP8B2	152576755	0.000000	0.05858	0.000000	0.03702	0.372000	0.29890	-0.669000	0.05262	-0.628000	0.05582	0.655000	0.94253	TCC	ATP8B2	-	NULL		0.413	ATP8B2-003	KNOWN	basic|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087903.2	C	NM_020452		154310131	+1	no_errors	ENST00000368487	ensembl	human	known	70_37	missense	SNP	0.000	T
AVPR1A	552	genome.wustl.edu	37	12	63544014	63544014	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:63544014G>A	ENST00000299178.2	-	1	708	c.603C>T	c.(601-603)cgC>cgT	p.R201R		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	201					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CCCAGCAGTCGCGGGCCTTGG	0.622																																																	0													58.0	60.0	59.0					12																	63544014		2203	4297	6500	SO:0001819	synonymous_variant	552			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.603C>T	12.37:g.63544014G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.R201	ENST00000299178.2	37	c.603	CCDS8965.1	12																																																																																			AVPR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM		0.622	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1A	HGNC	protein_coding	OTTHUMT00000406734.1	G			63544014	-1	no_errors	ENST00000299178	ensembl	human	known	70_37	silent	SNP	0.885	A
BDP1	55814	genome.wustl.edu	37	5	70806208	70806208	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:70806208G>A	ENST00000358731.4	+	17	3552	c.3289G>A	c.(3289-3291)Gaa>Aaa	p.E1097K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1097	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AACTGAAAGAGAAATATCCCC	0.443																																																	0													76.0	76.0	76.0					5																	70806208		1820	4082	5902	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3289G>A	5.37:g.70806208G>A	ENSP00000351575:p.Glu1097Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E1097K	ENST00000358731.4	37	c.3289	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325014	0.41197	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.19532	2.14	3.11	0.262	0.15597	.	2.675400	0.01525	N	0.018556	T	0.21267	0.0512	L	0.53249	1.67	0.19775	N	0.999958	B;B;B	0.32526	0.046;0.374;0.015	B;B;B	0.32583	0.021;0.148;0.041	T	0.14337	-1.0476	10	0.27785	T	0.31	.	5.0137	0.14326	0.4396:0.0:0.5604:0.0	.	1097;1097;1097	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	K	1097;677	ENSP00000351575:E1097K	ENSP00000351575:E1097K	E	+	1	0	BDP1	70841964	0.000000	0.05858	0.026000	0.17262	0.455000	0.32408	0.063000	0.14410	0.028000	0.15324	0.205000	0.17691	GAA	BDP1	-	NULL		0.443	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	G	NM_018429		70806208	+1	no_errors	ENST00000358731	ensembl	human	known	70_37	missense	SNP	0.031	A
BIN1	274	genome.wustl.edu	37	2	127827588	127827588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:127827588G>A	ENST00000316724.5	-	5	805	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	BIN1_ENST00000393041.3_Nonsense_Mutation_p.Q132*|BIN1_ENST00000259238.4_Nonsense_Mutation_p.Q132*|BIN1_ENST00000409400.1_Nonsense_Mutation_p.Q132*|BIN1_ENST00000351659.3_Nonsense_Mutation_p.Q132*|BIN1_ENST00000352848.3_Nonsense_Mutation_p.Q132*|BIN1_ENST00000357970.3_Nonsense_Mutation_p.Q132*|BIN1_ENST00000376113.2_Nonsense_Mutation_p.Q132*|BIN1_ENST00000393040.3_Nonsense_Mutation_p.Q132*|BIN1_ENST00000346226.3_Nonsense_Mutation_p.Q132*|BIN1_ENST00000348750.4_Nonsense_Mutation_p.Q132*	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	132	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCGGGGAACTGGCCCAGGTAC	0.607																																																	0													134.0	105.0	115.0					2																	127827588		2203	4300	6503	SO:0001587	stop_gained	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.394C>T	2.37:g.127827588G>A	ENSP00000316779:p.Gln132*	Somatic		WXS	Illumina HiSeq	Phase_IV	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Nonsense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain	p.Q132*	ENST00000316724.5	37	c.394	CCDS2138.1	2	.	.	.	.	.	.	.	.	.	.	.	40	8.011155	0.98607	.	.	ENSG00000136717	ENST00000376113;ENST00000357970;ENST00000393040;ENST00000348750;ENST00000259238;ENST00000346226;ENST00000393041;ENST00000351659;ENST00000352848;ENST00000316724;ENST00000409400	.	.	.	4.8	3.88	0.44766	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-16.6667	13.4965	0.61428	0.0:0.0:0.8437:0.1563	.	.	.	.	X	132	.	ENSP00000259238:Q132X	Q	-	1	0	BIN1	127544058	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.280000	0.95786	2.501000	0.84356	0.556000	0.70494	CAG	BIN1	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin		0.607	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN1	HGNC	protein_coding	OTTHUMT00000254298.2	G	NM_139343		127827588	-1	no_errors	ENST00000316724	ensembl	human	known	70_37	nonsense	SNP	1.000	A
BMP15	9210	genome.wustl.edu	37	X	50659449	50659449	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:50659449C>G	ENST00000252677.3	+	2	1021	c.1021C>G	c.(1021-1023)Cag>Gag	p.Q341E		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	341					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CGCCATTATTCAGAACCTTAT	0.483																																																	0													122.0	106.0	111.0					X																	50659449		2203	4299	6502	SO:0001583	missense	9210			AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.1021C>G	X.37:g.50659449C>G	ENSP00000252677:p.Gln341Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.Q341E	ENST00000252677.3	37	c.1021	CCDS14334.1	X	.	.	.	.	.	.	.	.	.	.	c	13.97	2.396536	0.42512	.	.	ENSG00000130385	ENST00000252677	D	0.84442	-1.85	5.58	4.72	0.59763	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93651	0.7972	M	0.94063	3.49	0.58432	D	0.999991	D	0.76494	0.999	D	0.91635	0.999	D	0.94144	0.7399	10	0.87932	D	0	.	11.3018	0.49311	0.0:0.9094:0.0:0.0906	.	341	O95972	BMP15_HUMAN	E	341	ENSP00000252677:Q341E	ENSP00000252677:Q341E	Q	+	1	0	BMP15	50676189	1.000000	0.71417	0.995000	0.50966	0.024000	0.10985	5.916000	0.69981	1.130000	0.42092	-0.199000	0.12753	CAG	BMP15	-	pfam_TGF-b_C,smart_TGF-b_C		0.483	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP15	HGNC	protein_coding	OTTHUMT00000056572.1	C	NM_005448		50659449	+1	no_errors	ENST00000252677	ensembl	human	known	70_37	missense	SNP	0.999	G
BRWD1	54014	genome.wustl.edu	37	21	40630548	40630548	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr21:40630548C>G	ENST00000333229.2	-	18	2263	c.1936G>C	c.(1936-1938)Gat>Cat	p.D646H	BRWD1_ENST00000380800.3_Missense_Mutation_p.D646H|BRWD1_ENST00000342449.3_Missense_Mutation_p.D646H	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	646					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTGCGTTCATCATTATCATTG	0.358																																					Melanoma(170;988 1986 4794 16843 39731)												0													135.0	120.0	125.0					21																	40630548		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1936G>C	21.37:g.40630548C>G	ENSP00000330753:p.Asp646His	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.D646H	ENST00000333229.2	37	c.1936	CCDS13662.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.497407|2.497407	0.44455|0.44455	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800|ENST00000455867	T;T;T|.	0.56444|.	0.46;0.48;0.56|.	5.33|5.33	4.44|4.44	0.53790|0.53790	.|.	0.728893|.	0.13204|.	N|.	0.405738|.	T|.	0.61887|.	0.2383|.	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	P;B;P;P|.	0.40638|.	0.612;0.375;0.725;0.612|.	B;B;P;B|.	0.49140|.	0.172;0.429;0.601;0.319|.	T|.	0.59484|.	-0.7446|.	10|.	0.59425|.	D|.	0.04|.	-3.4593|-3.4593	13.7406|13.7406	0.62845|0.62845	0.0:0.926:0.0:0.074|0.0:0.926:0.0:0.074	.|.	357;357;646;646|.	Q5R2U6;Q5R2U8;Q9NSI6-2;Q9NSI6|.	.;.;.;BRWD1_HUMAN|.	H|S	646|357	ENSP00000330753:D646H;ENSP00000344333:D646H;ENSP00000370178:D646H|.	ENSP00000330753:D646H|.	D|X	-|-	1|2	0|2	BRWD1|BRWD1	39552418|39552418	0.276000|0.276000	0.24211|0.24211	0.957000|0.957000	0.39632|0.39632	0.444000|0.444000	0.32077|0.32077	2.088000|2.088000	0.41663|0.41663	1.269000|1.269000	0.44280|0.44280	0.561000|0.561000	0.74099|0.74099	GAT|TGA	BRWD1	-	NULL		0.358	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	C	NM_033656		40630548	-1	no_errors	ENST00000333229	ensembl	human	known	70_37	missense	SNP	0.928	G
BSG	682	genome.wustl.edu	37	19	581370	581370	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:581370C>G	ENST00000333511.3	+	6	918	c.848C>G	c.(847-849)tCa>tGa	p.S283*	BSG_ENST00000545507.2_Nonsense_Mutation_p.S74*|BSG_ENST00000353555.4_Nonsense_Mutation_p.S167*|BSG_ENST00000346916.4_Nonsense_Mutation_p.S103*	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	283	Ig-like V-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCCGGTCAGAGCTACAC	0.627																																																	0													54.0	54.0	54.0					19																	581370		2203	4299	6502	SO:0001587	stop_gained	682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.848C>G	19.37:g.581370C>G	ENSP00000333769:p.Ser283*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S283*	ENST00000333511.3	37	c.848	CCDS12033.1	19	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962350	0.53400	.	.	ENSG00000172270	ENST00000346916;ENST00000545507;ENST00000333511;ENST00000353555	.	.	.	4.01	4.01	0.46588	.	0.121668	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-7.8889	15.3112	0.74035	0.0:1.0:0.0:0.0	.	.	.	.	X	103;74;283;167	.	ENSP00000333769:S283X	S	+	2	0	BSG	532370	0.415000	0.25416	0.003000	0.11579	0.002000	0.02628	6.278000	0.72614	2.087000	0.62958	0.462000	0.41574	TCA	BSG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.627	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	C	NM_001728		581370	+1	no_errors	ENST00000333511	ensembl	human	known	70_37	nonsense	SNP	0.159	G
BTNL3	10917	genome.wustl.edu	37	5	180431735	180431735	+	Splice_Site	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:180431735G>A	ENST00000342868.6	+	7	1019		c.e7-1		RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3							integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CTTGCTTTCAGAATTGAGAGA	0.542																																																	0													97.0	81.0	87.0					5																	180431735		2203	4300	6503	SO:0001630	splice_region_variant	10917			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.836-1G>A	5.37:g.180431735G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q496L7|Q9Y2C7	Splice_Site	SNP	-	e7-1	ENST00000342868.6	37	c.836-1	CCDS47358.1	5	.	.	.	.	.	.	.	.	.	.	G	9.366	1.069189	0.20147	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	.	.	.	2.04	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0278	0.30446	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BTNL3	180364341	0.945000	0.32115	0.033000	0.17914	0.092000	0.18411	1.433000	0.34947	1.081000	0.41110	0.205000	0.17691	.	BTNL3	-	-		0.542	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTNL3	HGNC	protein_coding	OTTHUMT00000367176.2	G	NM_197975	Intron	180431735	+1	no_errors	ENST00000342868	ensembl	human	known	70_37	splice_site	SNP	0.680	A
C11orf24	53838	genome.wustl.edu	37	11	68031153	68031153	+	Intron	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:68031153C>T	ENST00000304271.6	-	3	479				C11orf24_ENST00000530166.1_5'UTR|C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						ACAGCTTTCTCACTTACGTGG	0.542																																					NSCLC(21;855 905 4198 36694)												0													62.0	54.0	56.0					11																	68031153		2200	4292	6492	SO:0001627	intron_variant	53838			AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.76+6G>A	11.37:g.68031153C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H2K4	RNA	SNP	-	NULL	ENST00000304271.6	37	NULL	CCDS8180.1	11																																																																																			C11orf24	-	-		0.542	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf24	HGNC	protein_coding	OTTHUMT00000394750.1	C	NM_022338		68031153	-1	no_errors	ENST00000530166	ensembl	human	known	70_37	rna	SNP	0.760	T
C18orf8	29919	genome.wustl.edu	37	18	21109337	21109337	+	Intron	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr18:21109337C>T	ENST00000269221.3	+	15	1526				C18orf8_ENST00000590868.1_Intron|C18orf8_ENST00000591367.1_3'UTR	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8							lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAGGAGACTTCATGTGATTAG	0.473																																																	0																																										SO:0001627	intron_variant	29919			AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1416+75C>T	18.37:g.21109337C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BU17|Q9Y5M0	RNA	SNP	-	NULL	ENST00000269221.3	37	NULL	CCDS32803.1	18																																																																																			C18orf8	-	-		0.473	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C18orf8	HGNC	protein_coding	OTTHUMT00000445386.1	C	NM_013326		21109337	+1	no_errors	ENST00000591367	ensembl	human	known	70_37	rna	SNP	0.000	T
ERICH3	127254	genome.wustl.edu	37	1	75037649	75037649	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:75037649C>T	ENST00000326665.5	-	14	3963	c.3745G>A	c.(3745-3747)Gac>Aac	p.D1249N	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1249	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCGCAGGAGTCGTGATCTTTG	0.602																																																	0													91.0	82.0	85.0					1																	75037649		2203	4300	6503	SO:0001583	missense	127254																														ENST00000326665.5:c.3745G>A	1.37:g.75037649C>T	ENSP00000322609:p.Asp1249Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.D1249N	ENST00000326665.5	37	c.3745	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887728	0.33348	.	.	ENSG00000178965	ENST00000326665	T	0.29142	1.58	4.78	-4.71	0.03279	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.40496	-0.9560	9	0.20046	T	0.44	1.6072	2.2885	0.04133	0.1173:0.3061:0.3459:0.2307	.	1249	Q5RHP9	CA173_HUMAN	N	1249	ENSP00000322609:D1249N	ENSP00000322609:D1249N	D	-	1	0	C1orf173	74810237	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.151000	0.10175	-0.511000	0.06514	-0.254000	0.11334	GAC	C1orf173	-	NULL		0.602	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	C			75037649	-1	no_errors	ENST00000326665	ensembl	human	known	70_37	missense	SNP	0.000	T
C1orf226	400793	genome.wustl.edu	37	1	162353076	162353076	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:162353076C>A	ENST00000458626.2	+	2	594	c.422C>A	c.(421-423)tCa>tAa	p.S141*	C1orf226_ENST00000426197.2_Nonsense_Mutation_p.S184*	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	141										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						CTGATTTCATCACAGCCTGTC	0.602																																																	0													45.0	50.0	48.0					1																	162353076		1972	4166	6138	SO:0001587	stop_gained	400793			AI480219, AK023199, AK125122, AL512785, BC127743	CCDS44268.1, CCDS53422.1	1q23.3	2013-10-11			ENSG00000239887	ENSG00000239887			34351	protein-coding gene	gene with protein product						14702039	Standard	NM_001085375		Approved	FLJ13137	uc010pkt.1	A1L170	OTTHUMG00000031376	ENST00000458626.2:c.422C>A	1.37:g.162353076C>A	ENSP00000437071:p.Ser141*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF31	Nonsense_Mutation	SNP	NULL	p.S184*	ENST00000458626.2	37	c.551	CCDS53422.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.499161	0.96355	.	.	ENSG00000239887	ENST00000420220;ENST00000426197;ENST00000458626	.	.	.	4.58	4.58	0.56647	.	0.605496	0.13632	N	0.373678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.3352	16.4883	0.84191	0.0:1.0:0.0:0.0	.	.	.	.	X	141;184;141	.	ENSP00000398035:S141X	S	+	2	0	C1orf226	160619700	0.949000	0.32298	0.010000	0.14722	0.988000	0.76386	6.592000	0.74095	2.535000	0.85469	0.655000	0.94253	TCA	C1orf226	-	NULL		0.602	C1orf226-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C1orf226	HGNC	protein_coding	OTTHUMT00000076793.2	C	NM_001085375		162353076	+1	no_errors	ENST00000426197	ensembl	human	known	70_37	nonsense	SNP	0.113	A
MROH8	140699	genome.wustl.edu	37	20	35749320	35749320	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:35749320C>T	ENST00000400441.3	-	16	2095	c.2096G>A	c.(2095-2097)gGa>gAa	p.G699E	MROH8_ENST00000441008.2_Missense_Mutation_p.G685E|MROH8_ENST00000217333.8_Missense_Mutation_p.G528E			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	GAGAAATAGTCCCTGAAGATG	0.433																																																	0													117.0	113.0	114.0					20																	35749320		1908	4119	6027	SO:0001583	missense	140699			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2096G>A	20.37:g.35749320C>T	ENSP00000383291:p.Gly699Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G699E	ENST00000400441.3	37	c.2096		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.005009|4.005009	0.74932|0.74932	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811|ENST00000441008;ENST00000400441;ENST00000217333	.|T;T;T	.|0.67865	.|-0.29;-0.29;-0.29	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.81049|0.81049	0.4742|0.4742	M|M	0.71036|0.71036	2.16|2.16	0.40758|0.40758	D|D	0.982974|0.982974	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	T|T	0.82643|0.82643	-0.0356|-0.0356	5|10	.|0.72032	.|D	.|0.01	-17.9374|-17.9374	15.6512|15.6512	0.77095|0.77095	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|699;533	.|E7ETR9;Q9H579-2	.|.;.	N|E	726|685;699;528	.|ENSP00000392144:G685E;ENSP00000383291:G699E;ENSP00000217333:G528E	.|ENSP00000217333:G528E	D|G	-|-	1|2	0|0	C20orf132|C20orf132	35182734|35182734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	3.605000|3.605000	0.54088|0.54088	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	GAC|GGA	C20orf132	-	superfamily_ARM-type_fold		0.433	MROH8-202	KNOWN	basic|appris_principal	protein_coding	C20orf132	HGNC	protein_coding		C	NM_152503		35749320	-1	no_errors	ENST00000400441	ensembl	human	known	70_37	missense	SNP	1.000	T
C2orf76	130355	genome.wustl.edu	37	2	120069238	120069238	+	Silent	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:120069238G>C	ENST00000409466.2	-	6	785	c.264C>G	c.(262-264)ctC>ctG	p.L88L	C2orf76_ENST00000409877.1_Silent_p.L88L|C2orf76_ENST00000334816.7_Silent_p.L88L|C2orf76_ENST00000409523.1_Silent_p.L88L			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	88										large_intestine(1)|lung(3)|pancreas(1)	5						CTTTCAGCAGGAGTCTTTCGT	0.463																																																	0													92.0	88.0	89.0					2																	120069238		1882	4114	5996	SO:0001819	synonymous_variant	130355				CCDS42739.1	2q14.2	2011-05-09			ENSG00000186132	ENSG00000186132			27017	protein-coding gene	gene with protein product						12477932	Standard	NM_001017927		Approved	MGC104437, LOC130355, AIM29	uc002tls.2	Q3KRA6	OTTHUMG00000153298	ENST00000409466.2:c.264C>G	2.37:g.120069238G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLS8|Q4VC35	Silent	SNP	pfam_UPF0538	p.L88	ENST00000409466.2	37	c.264	CCDS42739.1	2																																																																																			C2orf76	-	pfam_UPF0538		0.463	C2orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf76	HGNC	protein_coding	OTTHUMT00000330582.2	G	NM_001017927		120069238	-1	no_errors	ENST00000334816	ensembl	human	known	70_37	silent	SNP	0.982	C
C3orf14	57415	genome.wustl.edu	37	3	62317015	62317015	+	Missense_Mutation	SNP	G	G	A	rs567089108		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:62317015G>A	ENST00000494481.1	+	5	507	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.E65K|C3orf14_ENST00000232519.5_Missense_Mutation_p.E65K|PTPRG-AS1_ENST00000490916.1_RNA|C3orf14_ENST00000542214.1_Missense_Mutation_p.E65K			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	65										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		AGAAGCAGCAGAAAAGTCACT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		17109	0.0		0.0	False		,,,				2504	0.001																0													119.0	116.0	117.0					3																	62317015		2203	4300	6503	SO:0001583	missense	57415			AF236158	CCDS2896.1	3p14.2	2011-11-29			ENSG00000114405	ENSG00000114405			25024	protein-coding gene	gene with protein product						12477932	Standard	XM_005265338		Approved	HT021	uc003dlg.3	Q9HBI5	OTTHUMG00000158704	ENST00000494481.1:c.193G>A	3.37:g.62317015G>A	ENSP00000418086:p.Glu65Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9U0	Missense_Mutation	SNP	NULL	p.E65K	ENST00000494481.1	37	c.193	CCDS2896.1	3	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633286	0.67015	.	.	ENSG00000114405	ENST00000462069;ENST00000232519;ENST00000494481;ENST00000542214	.	.	.	6.12	5.25	0.73442	.	0.191467	0.42420	D	0.000703	T	0.53481	0.1799	L	0.55834	1.745	0.35970	D	0.835279	P	0.36683	0.565	B	0.37888	0.26	T	0.61671	-0.7015	9	0.38643	T	0.18	-16.8614	12.9359	0.58313	0.0746:0.0:0.9254:0.0	.	65	Q9HBI5	CC014_HUMAN	K	65	.	ENSP00000232519:E65K	E	+	1	0	C3orf14	62292055	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	3.927000	0.56499	2.932000	0.99384	0.644000	0.83932	GAA	C3orf14	-	NULL		0.398	C3orf14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf14	HGNC	protein_coding	OTTHUMT00000351807.1	G	NM_020685		62317015	+1	no_errors	ENST00000232519	ensembl	human	known	70_37	missense	SNP	0.997	A
C3orf36	80111	genome.wustl.edu	37	3	133647582	133647582	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:133647582G>A	ENST00000408895.2	-	1	1074	c.66C>T	c.(64-66)ctC>ctT	p.L22L		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	22										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GGACTAGGCTGAGCCCACTAC	0.632																																																	0													45.0	48.0	47.0					3																	133647582		2202	4299	6501	SO:0001819	synonymous_variant	80111			AK025826	CCDS3083.1	3q22.1	2011-09-30			ENSG00000221972	ENSG00000221972			26170	protein-coding gene	gene with protein product						12477932	Standard	NM_025041		Approved	FLJ22173	uc003epz.1	Q3SXR2		ENST00000408895.2:c.66C>T	3.37:g.133647582G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SXR3|Q9H6K8	Silent	SNP	NULL	p.L22	ENST00000408895.2	37	c.66	CCDS3083.1	3																																																																																			C3orf36	-	NULL		0.632	C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf36	HGNC	protein_coding		G	NM_025041		133647582	-1	no_errors	ENST00000408895	ensembl	human	known	70_37	silent	SNP	0.001	A
C4B	721	genome.wustl.edu	37	6	31997361	31997361	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr6:31997361C>T	ENST00000435363.2	+	29	3779	c.3695C>T	c.(3694-3696)tCa>tTa	p.S1232L	C4B_ENST00000425700.2_Missense_Mutation_p.S1232L	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1232					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TACTGGGGCTCAGTCACTGGT	0.617																																																	0			GRCh37	CI994175	C4B	I							11.0	14.0	13.0					6																	31997361		1406	2561	3967	SO:0001583	missense	721			AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"""Blood group antigens"", ""Complement system"""	1324	protein-coding gene	gene with protein product		120820	"""complement component 4B"""				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3695C>T	6.37:g.31997361C>T	ENSP00000415941:p.Ser1232Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.S1232L	ENST00000435363.2	37	c.3695	CCDS47405.1	6	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186035	0.38609	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	T;T	0.14391	2.51;2.51	5.03	1.2	0.21068	.	1.403770	0.04550	N	0.389721	T	0.02929	0.0087	L	0.43598	1.365	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.14023	0.006;0.01	T	0.37957	-0.9683	10	0.07030	T	0.85	.	6.4013	0.21640	0.0:0.5804:0.0:0.4196	.	1232;1232	F5GXS0;Q6U2E9	.;.	L	1232	ENSP00000415941:S1232L;ENSP00000391933:S1232L	ENSP00000391933:S1232L	S	+	2	0	C4B	32105340	0.255000	0.24002	0.246000	0.24233	0.705000	0.40729	1.130000	0.31393	0.178000	0.19917	-0.274000	0.10170	TCA	C4B	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.617	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4B	HGNC	protein_coding	OTTHUMT00000076368.5	C	NM_001002029		31997361	+1	no_errors	ENST00000435363	ensembl	human	known	70_37	missense	SNP	0.018	T
SUGCT	79783	genome.wustl.edu	37	7	40220584	40220584	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr7:40220584C>G	ENST00000335693.4	+	2	183	c.160C>G	c.(160-162)Ctg>Gtg	p.L54V	C7orf10_ENST00000540834.1_Missense_Mutation_p.L47V|C7orf10_ENST00000309930.5_Missense_Mutation_p.L54V|C7orf10_ENST00000401647.2_Missense_Mutation_p.L54V	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		54					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GGTAAAAATTCTGGATCTAAC	0.284																																																	0													258.0	256.0	257.0					7																	40220584		1797	4069	5866	SO:0001583	missense	79783																														ENST00000335693.4:c.160C>G	7.37:g.40220584C>G	ENSP00000338475:p.Leu54Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.L54V	ENST00000335693.4	37	c.160	CCDS55105.1	7	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	14.68|14.68|14.68	2.606763|2.606763|2.606763	0.46527|0.46527|0.46527	.|.|.	.|.|.	ENSG00000175600|ENSG00000175600|ENSG00000175600	ENST00000416370|ENST00000309930;ENST00000401647;ENST00000335693;ENST00000540834|ENST00000413931	.|D;T;T;T|.	.|0.88277|.	.|-2.36;0.46;0.46;0.46|.	4.12|4.12|4.12	3.23|3.23|3.23	0.37069|0.37069|0.37069	.|CoA-transferase family III domain (2);|.	.|0.206918|.	.|0.31134|.	.|N|.	.|0.008198|.	T|T|T	0.26666|0.26666|0.26666	0.0652|0.0652|0.0652	N|N|N	0.16098|0.16098|0.16098	0.37|0.37|0.37	0.32125|0.32125|0.32125	N|N|N	0.587567|0.587567|0.587567	.|P;P;P|.	.|0.50617|.	.|0.937;0.709;0.924|.	.|P;P;P|.	.|0.54401|.	.|0.751;0.541;0.73|.	T|T|T	0.30851|0.30851|0.30851	-0.9964|-0.9964|-0.9964	5|10|5	.|0.52906|.	.|T|.	.|0.07|.	-12.3933|-12.3933|-12.3933	8.1428|8.1428|8.1428	0.31093|0.31093|0.31093	0.0:0.807:0.0:0.193|0.0:0.807:0.0:0.193|0.0:0.807:0.0:0.193	.|.|.	.|54;54;54|.	.|Q4KMW8;Q9HAC7;Q9HAC7-2|.	.|.;CG010_HUMAN;.|.	L|V|C	48|54;54;54;47|65	.|ENSP00000312054:L54V;ENSP00000385222:L54V;ENSP00000338475:L54V;ENSP00000445521:L47V|.	.|ENSP00000312054:L54V|.	F|L|S	+|+|+	3|1|2	2|2|0	C7orf10|C7orf10|C7orf10	40187109|40187109|40187109	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.974000|0.974000|0.974000	0.67602|0.67602|0.67602	1.150000|1.150000|1.150000	0.31639|0.31639|0.31639	1.301000|1.301000|1.301000	0.44836|0.44836|0.44836	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	TTC|CTG|TCT	C7orf10	-	superfamily_CoA-Trfase_III_dom		0.284	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C7orf10	HGNC	protein_coding	OTTHUMT00000338388.1	C			40220584	+1	no_errors	ENST00000309930	ensembl	human	known	70_37	missense	SNP	1.000	G
CABP2	51475	genome.wustl.edu	37	11	67288598	67288598	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:67288598C>G	ENST00000294288.4	-	4	346	c.277G>C	c.(277-279)Gac>Cac	p.D93H	CABP2_ENST00000353903.5_Missense_Mutation_p.D36H	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	93	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						CCGTCCCGGTCTCGGTCAAAC	0.637																																																	0													77.0	71.0	73.0					11																	67288598		2200	4295	6495	SO:0001583	missense	51475			AF169154	CCDS8170.1	11q13.1	2013-01-10			ENSG00000167791	ENSG00000167791		"""EF-hand domain containing"""	1385	protein-coding gene	gene with protein product		607314				10625670	Standard	NM_016366		Approved		uc001omc.1	Q9NPB3	OTTHUMG00000168014	ENST00000294288.4:c.277G>C	11.37:g.67288598C>G	ENSP00000294288:p.Asp93His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D93H	ENST00000294288.4	37	c.277	CCDS8170.1	11	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994416	0.54041	.	.	ENSG00000167791	ENST00000353903;ENST00000294288	T;T	0.77358	-1.09;-1.09	4.53	4.53	0.55603	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	M	0.91663	3.23	0.52501	D	0.999951	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.92459	0.5976	10	0.87932	D	0	-36.4367	16.3593	0.83251	0.0:1.0:0.0:0.0	.	99;36;93	F1T0K2;Q9NPB3-2;Q9NPB3	.;.;CABP2_HUMAN	H	36;93	ENSP00000312037:D36H;ENSP00000294288:D93H	ENSP00000294288:D93H	D	-	1	0	CABP2	67045174	0.988000	0.35896	1.000000	0.80357	0.190000	0.23558	2.847000	0.48270	2.514000	0.84764	0.555000	0.69702	GAC	CABP2	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.637	CABP2-002	KNOWN	basic|CCDS	protein_coding	CABP2	HGNC	protein_coding	OTTHUMT00000397516.1	C			67288598	-1	no_errors	ENST00000294288	ensembl	human	known	70_37	missense	SNP	1.000	G
CACNA1B	774	genome.wustl.edu	37	9	140970329	140970329	+	Missense_Mutation	SNP	G	G	A	rs373622271		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:140970329G>A	ENST00000371372.1	+	35	5061	c.4916G>A	c.(4915-4917)cGg>cAg	p.R1639Q	CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1640Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1638Q|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R833Q|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1639Q|CACNA1B_ENST00000371365.2_Missense_Mutation_p.R3Q|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1637Q	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1639					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AACAACTTCCGGACGTTTTTG	0.547																																																	0								G	GLN/ARG	0,4004		0,0,2002	62.0	68.0	66.0		4916	2.2	1.0	9		66	1,8347		0,1,4173	no	missense	CACNA1B	NM_000718.3	43	0,1,6175	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging	1639/2340	140970329	1,12351	2002	4174	6176	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4916G>A	9.37:g.140970329G>A	ENSP00000360423:p.Arg1639Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.R1640Q	ENST00000371372.1	37	c.4919	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	5.033	0.191746	0.09547	0.0	1.2E-4	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000371365	D;D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	5.23	2.25	0.28309	.	0.143657	0.47852	N	0.000204	D	0.90789	0.7108	N	0.10916	0.065	0.58432	D	0.999994	P;P	0.51933	0.949;0.949	P;P	0.45681	0.49;0.49	D	0.86523	0.1817	10	0.08179	T	0.78	.	9.4411	0.38668	0.3022:0.0:0.6978:0.0	.	1638;1637	B1AQK7;B1AQK6	.;.	Q	1639;1639;833;1637;1638;1640;3	ENSP00000360423:R1639Q;ENSP00000277551:R1639Q;ENSP00000277549:R833Q;ENSP00000360414:R1637Q;ENSP00000360408:R1638Q;ENSP00000360406:R1640Q;ENSP00000360416:R3Q	ENSP00000277549:R833Q	R	+	2	0	CACNA1B	140090150	0.998000	0.40836	0.984000	0.44739	0.538000	0.34931	2.644000	0.46613	0.252000	0.21531	-0.345000	0.07892	CGG	CACNA1B	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCCAlpha1		0.547	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	G	NM_000718		140970329	+1	no_errors	ENST00000371355	ensembl	human	known	70_37	missense	SNP	0.959	A
CACNA2D3	55799	genome.wustl.edu	37	3	55108242	55108242	+	3'UTR	SNP	G	G	A	rs71948046	byFrequency	TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:55108242G>A	ENST00000474759.1	+	0	3333				CACNA2D3_ENST00000288197.5_3'UTR|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000415676.2_3'UTR|CACNA2D3_ENST00000490478.1_3'UTR	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3							integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GACACTGACTGAGATGTTCTC	0.473																																																	0													139.0	132.0	134.0					3																	55108242		2100	4216	6316	SO:0001624	3_prime_UTR_variant	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.*9G>A	3.37:g.55108242G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPL6|Q9NY16|Q9NY18	RNA	SNP	-	NULL	ENST00000474759.1	37	NULL	CCDS54598.1	3																																																																																			CACNA2D3	-	-		0.473	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	G			55108242	+1	no_errors	ENST00000478261	ensembl	human	known	70_37	rna	SNP	0.994	A
CBLC	23624	genome.wustl.edu	37	19	45281228	45281228	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:45281228G>A	ENST00000270279.3	+	1	103	c.40G>A	c.(40-42)Gag>Aag	p.E14K	CBLC_ENST00000341505.4_Missense_Mutation_p.E14K	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	14	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				ACAGTGGGAAGAGGCCCGCGC	0.726			M		AML																																			Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0													9.0	11.0	10.0					19																	45281228		1938	3865	5803	SO:0001583	missense	23624			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.40G>A	19.37:g.45281228G>A	ENSP00000270279:p.Glu14Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING	p.E14K	ENST00000270279.3	37	c.40	CCDS12643.1	19	.	.	.	.	.	.	.	.	.	.	.	14.95	2.687737	0.48097	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	T;T	0.77098	-1.07;-1.07	3.45	2.4	0.29515	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.105878	0.36409	N	0.002610	T	0.66636	0.2809	L	0.44542	1.39	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.09377	0.004;0.003	T	0.60141	-0.7321	10	0.66056	D	0.02	-14.0244	6.9741	0.24664	0.1301:0.0:0.8699:0.0	.	14;14	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	K	14	ENSP00000270279:E14K;ENSP00000340250:E14K	ENSP00000270279:E14K	E	+	1	0	CBLC	49973068	0.008000	0.16893	0.005000	0.12908	0.200000	0.23975	1.616000	0.36933	0.790000	0.33803	-0.261000	0.10672	GAG	CBLC	-	pfam_Adaptor_Cbl_N_hlx,superfamily_Adaptor_Cbl_N_hlx		0.726	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLC	HGNC	protein_coding	OTTHUMT00000319732.2	G	NM_012116		45281228	+1	no_errors	ENST00000270279	ensembl	human	known	70_37	missense	SNP	0.004	A
CBX1	10951	genome.wustl.edu	37	17	46153372	46153372	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:46153372C>A	ENST00000393408.3	-	3	789	c.309G>T	c.(307-309)aaG>aaT	p.K103N	CBX1_ENST00000495350.1_Missense_Mutation_p.K103N|CBX1_ENST00000225603.4_Missense_Mutation_p.K103N	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	103					negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						cctcttctttcttcttctttg	0.398																																					NSCLC(136;694 2497 38792 39034)												0													62.0	42.0	49.0					17																	46153372		2203	4300	6503	SO:0001583	missense	10951			U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"""HP1 beta homolog (Drosophila )"""	604511	"""chromobox homolog 1 (Drosophila HP1 beta)"""			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.309G>T	17.37:g.46153372C>A	ENSP00000377060:p.Lys103Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	P23197	Missense_Mutation	SNP	pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.K103N	ENST00000393408.3	37	c.309	CCDS11525.1	17	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215844	0.58452	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583;ENST00000444685	.	.	.	5.85	4.88	0.63580	Chromo domain-like (1);	0.073774	0.51477	U	0.000081	T	0.26702	0.0653	N	0.08118	0	0.52099	D	0.999946	P	0.44877	0.845	B	0.36534	0.227	T	0.10109	-1.0644	9	0.37606	T	0.19	-28.3135	14.0661	0.64831	0.0:0.9263:0.0:0.0737	.	103	P83916	CBX1_HUMAN	N	103	.	ENSP00000225603:K103N	K	-	3	2	CBX1	43508371	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.542000	0.36137	1.479000	0.48272	-0.150000	0.13652	AAG	CBX1	-	superfamily_Chromodomain-like		0.398	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CBX1	HGNC	protein_coding	OTTHUMT00000318016.1	C	NM_006807		46153372	-1	no_errors	ENST00000225603	ensembl	human	known	70_37	missense	SNP	1.000	A
CBX1	10951	genome.wustl.edu	37	17	46153539	46153539	+	Splice_Site	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:46153539C>G	ENST00000393408.3	-	3	622	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	CBX1_ENST00000495350.1_Splice_Site_p.E48Q|CBX1_ENST00000225603.4_Splice_Site_p.E48Q	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	48	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						GTGTTGTCCTCACTGAAACCA	0.443																																					NSCLC(136;694 2497 38792 39034)												0													83.0	76.0	78.0					17																	46153539		2203	4300	6503	SO:0001630	splice_region_variant	10951			U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"""HP1 beta homolog (Drosophila )"""	604511	"""chromobox homolog 1 (Drosophila HP1 beta)"""			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.141-1G>C	17.37:g.46153539C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	P23197	Missense_Mutation	SNP	pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.E48Q	ENST00000393408.3	37	c.142	CCDS11525.1	17	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210101	0.79240	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583;ENST00000444685	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	5.85	5.85	0.93711	Chromo domain (1);Chromo domain subgroup (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.067931	0.56097	U	0.000027	T	0.79143	0.4396	M	0.69523	2.12	0.80722	D	1	P	0.49447	0.924	P	0.47162	0.54	T	0.77643	-0.2511	10	0.34782	T	0.22	-26.4328	18.9246	0.92540	0.0:1.0:0.0:0.0	.	48	P83916	CBX1_HUMAN	Q	48	ENSP00000225603:E48Q;ENSP00000377060:E48Q;ENSP00000385413:E48Q;ENSP00000393179:E48Q	ENSP00000225603:E48Q	E	-	1	0	CBX1	43508538	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.792000	0.85828	2.767000	0.95098	0.655000	0.94253	GAG	CBX1	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr		0.443	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CBX1	HGNC	protein_coding	OTTHUMT00000318016.1	C	NM_006807	Missense_Mutation	46153539	-1	no_errors	ENST00000225603	ensembl	human	known	70_37	missense	SNP	1.000	G
CCDC110	256309	genome.wustl.edu	37	4	186379879	186379879	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:186379879C>G	ENST00000307588.3	-	6	1937	c.1862G>C	c.(1861-1863)aGa>aCa	p.R621T	CCDC110_ENST00000510617.1_Missense_Mutation_p.R621T|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.R584T	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	621						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTTGCCAATCTTTCTTTCTC	0.338																																																	0													79.0	83.0	81.0					4																	186379879		2202	4296	6498	SO:0001583	missense	256309			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1862G>C	4.37:g.186379879C>G	ENSP00000306776:p.Arg621Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86YI9|Q8N7W0	Missense_Mutation	SNP	superfamily_4_helix_cytokine-like_core	p.R621T	ENST00000307588.3	37	c.1862	CCDS3843.1	4	.	.	.	.	.	.	.	.	.	.	C	9.501	1.103190	0.20632	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.33654	1.4;1.4;1.4	5.55	0.704	0.18121	.	0.582336	0.16863	N	0.196429	T	0.32285	0.0824	L	0.60455	1.87	0.09310	N	1	P;P;P	0.52316	0.952;0.952;0.952	P;P;P	0.49085	0.523;0.6;0.523	T	0.14980	-1.0453	10	0.25751	T	0.34	-4.1164	0.8396	0.01147	0.2423:0.3655:0.1181:0.2741	.	621;584;621	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	T	584;621;621	ENSP00000377172:R584T;ENSP00000306776:R621T;ENSP00000427246:R621T	ENSP00000306776:R621T	R	-	2	0	CCDC110	186616873	0.001000	0.12720	0.000000	0.03702	0.676000	0.39594	-0.262000	0.08682	-0.128000	0.11641	-0.140000	0.14226	AGA	CCDC110	-	NULL		0.338	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC110	HGNC	protein_coding	OTTHUMT00000360519.2	C	NM_152775		186379879	-1	no_errors	ENST00000307588	ensembl	human	known	70_37	missense	SNP	0.000	G
CCDC130	81576	genome.wustl.edu	37	19	13869865	13869865	+	Intron	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:13869865G>A	ENST00000586600.1	+	8	903				CCDC130_ENST00000221554.8_Intron			P13994	CC130_HUMAN	coiled-coil domain containing 130						response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CCCTGGCCCTGAGTCTGCGCT	0.657																																																	0													19.0	20.0	20.0					19																	13869865		2203	4298	6501	SO:0001627	intron_variant	81576			AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.400+41G>A	19.37:g.13869865G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BQ72	Silent	SNP	pfam_CWC16	p.L48	ENST00000586600.1	37	c.144	CCDS12296.1	19																																																																																			CCDC130	-	NULL		0.657	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	CCDC130	HGNC	protein_coding	OTTHUMT00000453216.2	G	NM_030818		13869865	+1	no_errors	ENST00000589096	ensembl	human	putative	70_37	silent	SNP	0.000	A
CCDC37	348807	genome.wustl.edu	37	3	126139026	126139026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:126139026C>T	ENST00000352312.1	+	11	1135	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*	CCDC37_ENST00000393425.1_Nonsense_Mutation_p.Q347*|CCDC37_ENST00000505024.1_Nonsense_Mutation_p.Q347*	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	346										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GAGCAGCCCCCAGCAAGGCAG	0.657																																																	0													22.0	25.0	24.0					3																	126139026		2201	4300	6501	SO:0001587	stop_gained	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1036C>T	3.37:g.126139026C>T	ENSP00000344749:p.Gln346*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNA8|Q494V1|Q494V4|Q8N838	Nonsense_Mutation	SNP	superfamily_SuperAg_toxin_C_Staph/Strep	p.Q347*	ENST00000352312.1	37	c.1039	CCDS3037.1	3	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437002	0.62955	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	.	.	.	2.95	2.95	0.34219	.	3.089590	0.00772	N	0.001218	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-9.1846	9.5899	0.39539	0.0:1.0:0.0:0.0	.	.	.	.	X	346;347;347	.	ENSP00000344749:Q346X	Q	+	1	0	CCDC37	127621716	0.033000	0.19621	0.013000	0.15412	0.008000	0.06430	2.584000	0.46102	1.972000	0.57404	0.491000	0.48974	CAG	CCDC37	-	NULL		0.657	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	C	NM_182628		126139026	+1	no_errors	ENST00000393425	ensembl	human	known	70_37	nonsense	SNP	0.013	T
CD48	962	genome.wustl.edu	37	1	160651194	160651194	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:160651194C>T	ENST00000368046.3	-	3	537	c.450G>A	c.(448-450)ctG>ctA	p.L150L	RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000443928.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	150	Ig-like C2-type 2.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGACAGTTTCAGATAACAGT	0.453																																																	0													184.0	167.0	173.0					1																	160651194		2203	4300	6503	SO:0001819	synonymous_variant	962			BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.450G>A	1.37:g.160651194C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5U055|Q8MGR0	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.L150	ENST00000368046.3	37	c.450	CCDS1208.1	1																																																																																			CD48	-	pfscan_Ig-like		0.453	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD48	HGNC	protein_coding	OTTHUMT00000060471.1	C	NM_001778		160651194	-1	no_errors	ENST00000368046	ensembl	human	known	70_37	silent	SNP	0.026	T
CDC14B	8555	genome.wustl.edu	37	9	99380952	99380952	+	Intron	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:99380952G>C	ENST00000375241.1	-	1	612				CDC14B_ENST00000375236.1_Intron|CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000463569.1_Intron|CDC14B_ENST00000375240.3_Intron	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B						activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				AGGCCCAGGAGAGGGGCTCGG	0.751																																																	0																																										SO:0001627	intron_variant	8555			AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.160+548C>G	9.37:g.99380952G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	RNA	SNP	-	NULL	ENST00000375241.1	37	NULL	CCDS6722.1	9																																																																																			CDC14B	-	-		0.751	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC14B	HGNC	protein_coding	OTTHUMT00000053278.2	G	NM_033331		99380952	-1	no_errors	ENST00000463547	ensembl	human	known	70_37	rna	SNP	0.000	C
CDC42BPA	8476	genome.wustl.edu	37	1	227335194	227335194	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:227335194C>G	ENST00000366769.3	-	7	2051	c.760G>C	c.(760-762)Gat>Cat	p.D254H	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D254H|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D254H|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D254H|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D254H|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D254H|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D254H	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CCTTTTCCATCTTCCATGGCT	0.403																																																	0													111.0	103.0	106.0					1																	227335194		2203	4300	6503	SO:0001583	missense	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.760G>C	1.37:g.227335194C>G	ENSP00000355731:p.Asp254His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.D254H	ENST00000366769.3	37	c.760	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.144095	0.94603	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.69926	-0.41;-0.39;-0.41;-0.42;-0.44;-0.4;-0.41	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.998;0.994;0.999	T	0.75434	-0.3319	10	0.54805	T	0.06	.	19.5331	0.95237	0.0:1.0:0.0:0.0	.	254;254;254;254	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	H	254	ENSP00000355731:D254H;ENSP00000355729:D254H;ENSP00000335341:D254H;ENSP00000355728:D254H;ENSP00000355726:D254H;ENSP00000443275:D254H;ENSP00000355727:D254H	ENSP00000335341:D254H	D	-	1	0	CDC42BPA	225401817	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.783000	0.85696	2.626000	0.88956	0.650000	0.86243	GAT	CDC42BPA	-	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		0.403	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	C	NM_014826		227335194	-1	no_errors	ENST00000334218	ensembl	human	known	70_37	missense	SNP	1.000	G
CDH3	1001	genome.wustl.edu	37	16	68725654	68725654	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:68725654C>T	ENST00000264012.4	+	13	2371	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	CDH3_ENST00000429102.2_Silent_p.F609F|CDH3_ENST00000581171.1_Silent_p.F554F	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	609	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGAAGAAGTTCCTGAAGCAGG	0.517																																																	2	Unknown(2)	breast(2)											137.0	117.0	124.0					16																	68725654		2198	4300	6498	SO:0001819	synonymous_variant	1001			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1827C>T	16.37:g.68725654C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6F4|Q05DI6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F609	ENST00000264012.4	37	c.1827	CCDS10868.1	16																																																																																			CDH3	-	superfamily_Cadherin-like,pfscan_Cadherin		0.517	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH3	HGNC	protein_coding	OTTHUMT00000268896.2	C	NM_001793		68725654	+1	no_errors	ENST00000264012	ensembl	human	known	70_37	silent	SNP	1.000	T
CHD7	55636	genome.wustl.edu	37	8	61765139	61765139	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr8:61765139G>C	ENST00000423902.2	+	30	6456	c.5977G>C	c.(5977-5979)Gac>Cac	p.D1993H	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1993					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACAGCAATTTGACTGGAACCA	0.408																																																	0													65.0	59.0	61.0					8																	61765139		1835	4090	5925	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5977G>C	8.37:g.61765139G>C	ENSP00000392028:p.Asp1993His	Somatic		WXS	Illumina HiSeq	Phase_IV	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D1993H	ENST00000423902.2	37	c.5977	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207392	0.79240	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.90788	-2.73	5.48	5.48	0.80851	SANT domain, DNA binding (1);	0.000000	0.85682	D	0.000000	D	0.91106	0.7200	M	0.69358	2.11	0.80722	D	1	P	0.42584	0.784	B	0.43155	0.41	D	0.90310	0.4336	10	0.37606	T	0.19	-25.2651	19.3552	0.94410	0.0:0.0:1.0:0.0	.	1993	Q9P2D1	CHD7_HUMAN	H	1993	ENSP00000392028:D1993H	ENSP00000307304:D1993H	D	+	1	0	CHD7	61927693	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.583000	0.87209	0.655000	0.94253	GAC	CHD7	-	NULL		0.408	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	G	XM_098762		61765139	+1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	C
CHMP2B	25978	genome.wustl.edu	37	3	87302861	87302861	+	Splice_Site	SNP	G	G	C	rs63750652		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:87302861G>C	ENST00000263780.4	+	6	769		c.e6-1		CHMP2B_ENST00000471660.1_Splice_Site|CHMP2B_ENST00000494980.1_Splice_Site	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B						cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GTTTAATATAGATGGCCAAAG	0.398																																																	0			GRCh37	CS052951	CHMP2B	S	rs63750652						97.0	90.0	92.0					3																	87302861		2203	4300	6503	SO:0001630	splice_region_variant	25978			BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"""Charged multivesicular body proteins"""	24537	protein-coding gene	gene with protein product	"""VPS2 homolog B (S. cerevisiae)"""	609512	"""chromatin modifying protein 2B"""			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.532-1G>C	3.37:g.87302861G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJG8|Q53HC7|Q9Y4U6	Splice_Site	SNP	-	e6-1	ENST00000263780.4	37	c.532-1	CCDS2918.1	3	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601653	0.66445	.	.	ENSG00000083937	ENST00000471660;ENST00000263780;ENST00000494980	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9486	0.97190	0.0:0.0:1.0:0.0	rs63750652	.	.	.	.	-1	.	.	.	+	.	.	CHMP2B	87385551	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.744000	0.91596	2.722000	0.93159	0.585000	0.79938	.	CHMP2B	-	-		0.398	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP2B	HGNC	protein_coding	OTTHUMT00000352779.2	G	NM_014043	Intron	87302861	+1	no_errors	ENST00000263780	ensembl	human	known	70_37	splice_site	SNP	1.000	C
CHMP2B	25978	genome.wustl.edu	37	3	87302931	87302931	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:87302931G>A	ENST00000263780.4	+	6	839	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	CHMP2B_ENST00000471660.1_Missense_Mutation_p.E160K|CHMP2B_ENST00000494980.1_Missense_Mutation_p.E171K	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	201				E -> V (in Ref. 2; CAB45721 and 3; CAG38487). {ECO:0000305}.	cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AATCTCAGATGAAGAGATTGA	0.378																																																	0													100.0	99.0	99.0					3																	87302931		2203	4300	6503	SO:0001583	missense	25978			BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"""Charged multivesicular body proteins"""	24537	protein-coding gene	gene with protein product	"""VPS2 homolog B (S. cerevisiae)"""	609512	"""chromatin modifying protein 2B"""			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.601G>A	3.37:g.87302931G>A	ENSP00000263780:p.Glu201Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJG8|Q53HC7|Q9Y4U6	Missense_Mutation	SNP	pfam_Snf7	p.E201K	ENST00000263780.4	37	c.601	CCDS2918.1	3	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520661	0.64747	.	.	ENSG00000083937	ENST00000471660;ENST00000263780;ENST00000494980	D;D;D	0.89552	-2.17;-2.53;-2.49	5.85	5.85	0.93711	.	0.044306	0.85682	D	0.000000	D	0.84183	0.5416	L	0.37697	1.125	0.58432	D	0.999999	B;B	0.31318	0.22;0.319	B;B	0.24701	0.039;0.055	T	0.80188	-0.1486	10	0.21014	T	0.42	-7.3954	20.1559	0.98114	0.0:0.0:1.0:0.0	.	160;201	B4DJG8;Q9UQN3	.;CHM2B_HUMAN	K	160;201;171	ENSP00000419998:E160K;ENSP00000263780:E201K;ENSP00000418920:E171K	ENSP00000263780:E201K	E	+	1	0	CHMP2B	87385621	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.747000	0.91610	2.770000	0.95276	0.650000	0.86243	GAA	CHMP2B	-	NULL		0.378	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP2B	HGNC	protein_coding	OTTHUMT00000352779.2	G	NM_014043		87302931	+1	no_errors	ENST00000263780	ensembl	human	known	70_37	missense	SNP	1.000	A
CHPT1	56994	genome.wustl.edu	37	12	102120186	102120186	+	Intron	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:102120186C>T	ENST00000229266.3	+	8	1411				CHPT1_ENST00000549872.1_Missense_Mutation_p.H394Y	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1						CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGAACAGGTTCACAAGCATAT	0.413																																																	0													89.0	87.0	88.0					12																	102120186		2203	4300	6503	SO:0001627	intron_variant	56994				CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"""phosphatidylcholine synthesizing enzyme"""					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.1176+4C>T	12.37:g.102120186C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Missense_Mutation	SNP	pfam_CDP-OH_P_trans,pirsf_CHOPT	p.H394Y	ENST00000229266.3	37	c.1180	CCDS9086.1	12	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742757	0.49151	.	.	ENSG00000111666	ENST00000549872;ENST00000543999	T	0.41758	0.99	6.03	4.13	0.48395	.	.	.	.	.	T	0.29093	0.0723	.	.	.	0.26324	N	0.97762	B	0.02656	0.0	B	0.04013	0.001	T	0.16512	-1.0400	7	.	.	.	.	12.0911	0.53726	0.0:0.8544:0.0:0.1456	.	394	F8W1B3	.	Y	394;227	ENSP00000448766:H394Y	.	H	+	1	0	CHPT1	100644317	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.275000	0.51639	0.788000	0.33755	0.655000	0.94253	CAC	CHPT1	-	pirsf_CHOPT		0.413	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHPT1	HGNC	protein_coding	OTTHUMT00000409173.1	C	NM_020244		102120186	+1	no_errors	ENST00000549128	ensembl	human	known	70_37	missense	SNP	1.000	T
CHUK	1147	genome.wustl.edu	37	10	101953849	101953849	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:101953849G>A	ENST00000370397.7	-	18	1952	c.1866C>T	c.(1864-1866)ctC>ctT	p.L622L	CHUK_ENST00000590930.1_5'UTR	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	622					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CCACCTTAGGGAGTAGATCAA	0.418																																					Ovarian(159;52 1904 10536 35305 37148)												0													83.0	78.0	80.0					10																	101953849		2203	4300	6503	SO:0001819	synonymous_variant	1147			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1866C>T	10.37:g.101953849G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O14666|Q13132|Q5W0I4|Q92467	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L622	ENST00000370397.7	37	c.1866	CCDS7488.1	10																																																																																			CHUK	-	NULL		0.418	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1	G	NM_001278		101953849	-1	no_errors	ENST00000370397	ensembl	human	known	70_37	silent	SNP	1.000	A
CLDN18	51208	genome.wustl.edu	37	3	137717751	137717751	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:137717751C>T	ENST00000343735.4	+	1	175	c.41C>T	c.(40-42)tCa>tTa	p.S14L		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	14					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						TTCGTGGTTTCACTGATTGGG	0.552																																																	0													133.0	108.0	116.0					3																	137717751		2203	4300	6503	SO:0001583	missense	51208			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000343735.4:c.41C>T	3.37:g.137717751C>T	ENSP00000340939:p.Ser14Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PL21|Q96PH4	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin	p.S14L	ENST00000343735.4	37	c.41	CCDS33862.1	3	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085013	0.55861	.	.	ENSG00000066405	ENST00000343735	D	0.88046	-2.33	4.48	4.48	0.54585	.	0.260319	0.32273	N	0.006332	D	0.86669	0.5988	.	.	.	0.80722	D	1	P	0.41232	0.743	B	0.41299	0.353	D	0.89093	0.3484	9	0.87932	D	0	.	17.7098	0.88318	0.0:1.0:0.0:0.0	.	14	P56856-2	.	L	14	ENSP00000340939:S14L	ENSP00000340939:S14L	S	+	2	0	CLDN18	139200441	0.983000	0.35010	0.328000	0.25416	0.631000	0.37964	4.741000	0.62095	2.474000	0.83562	0.563000	0.77884	TCA	CLDN18	-	pfam_PMP22/EMP/MP20/Claudin		0.552	CLDN18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLDN18	HGNC	protein_coding	OTTHUMT00000357198.2	C	NM_001002026		137717751	+1	no_errors	ENST00000343735	ensembl	human	known	70_37	missense	SNP	0.252	T
CLEC11A	6320	genome.wustl.edu	37	19	51228588	51228588	+	Missense_Mutation	SNP	C	C	T	rs368757096		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:51228588C>T	ENST00000250340.4	+	4	1033	c.836C>T	c.(835-837)tCg>tTg	p.S279L	CLEC11A_ENST00000599973.1_Silent_p.L295L	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	279	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCCAGCGCCTCGCCGCATCCG	0.716																																																	0								C	LEU/SER	1,4343		0,1,2171	12.0	15.0	14.0		836	3.5	0.7	19		14	0,8482		0,0,4241	no	missense	CLEC11A	NM_002975.2	145	0,1,6412	TT,TC,CC		0.0,0.023,0.0078	benign	279/324	51228588	1,12825	2172	4241	6413	SO:0001583	missense	6320			AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"""C-type lectin domain containing"""	10576	protein-coding gene	gene with protein product		604713	"""stem cell growth factor; lymphocyte secreted C-type lectin"""	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.836C>T	19.37:g.51228588C>T	ENSP00000250340:p.Ser279Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAD4	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.S279L	ENST00000250340.4	37	c.836	CCDS12800.1	19	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526861	0.44969	2.3E-4	0.0	ENSG00000105472	ENST00000250340;ENST00000445858	T	0.38887	1.11	4.59	3.48	0.39840	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.998260	0.08102	N	0.997528	T	0.23846	0.0577	N	0.08118	0	0.22213	N	0.999289	B	0.23591	0.088	B	0.17722	0.019	T	0.06935	-1.0799	10	0.72032	D	0.01	-3.1825	6.9794	0.24694	0.0:0.7195:0.1788:0.1018	.	279	Q9Y240	CLC11_HUMAN	L	279;201	ENSP00000250340:S279L	ENSP00000250340:S279L	S	+	2	0	CLEC11A	55920400	0.974000	0.33945	0.680000	0.29994	0.391000	0.30476	2.421000	0.44688	2.259000	0.74868	0.455000	0.32223	TCG	CLEC11A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.716	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC11A	HGNC	protein_coding	OTTHUMT00000464062.1	C	NM_002975		51228588	+1	no_errors	ENST00000250340	ensembl	human	known	70_37	missense	SNP	0.639	T
CLSTN3	9746	genome.wustl.edu	37	12	7301773	7301773	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:7301773G>T	ENST00000266546.6	+	13	2503	c.2053G>T	c.(2053-2055)Gat>Tat	p.D685Y	CLSTN3_ENST00000537408.1_Missense_Mutation_p.D697Y	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	685					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGCCAAAAAGGATGAGAGTTG	0.562																																																	0													52.0	47.0	49.0					12																	7301773		2203	4300	6503	SO:0001583	missense	9746			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2053G>T	12.37:g.7301773G>T	ENSP00000266546:p.Asp685Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D685Y	ENST00000266546.6	37	c.2053	CCDS8575.1	12	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592997	0.86953	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.31510	1.49;1.49	5.71	5.71	0.89125	.	0.134947	0.52532	D	0.000078	T	0.47691	0.1459	L	0.50333	1.59	0.52099	D	0.999948	P;D	0.60575	0.94;0.988	P;P	0.56751	0.529;0.805	T	0.37979	-0.9682	10	0.62326	D	0.03	-22.8076	19.8575	0.96767	0.0:0.0:1.0:0.0	.	697;685	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	Y	685;697	ENSP00000266546:D685Y;ENSP00000440679:D697Y	ENSP00000266546:D685Y	D	+	1	0	CLSTN3	7193040	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.401000	0.79962	2.698000	0.92095	0.561000	0.74099	GAT	CLSTN3	-	NULL		0.562	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2	G	NM_014718		7301773	+1	no_errors	ENST00000266546	ensembl	human	known	70_37	missense	SNP	1.000	T
CLUL1	27098	genome.wustl.edu	37	18	619248	619248	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr18:619248G>A	ENST00000400606.2	+	3	287	c.142G>A	c.(142-144)Gag>Aag	p.E48K	CLUL1_ENST00000540035.1_Missense_Mutation_p.E100K|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000338387.7_Missense_Mutation_p.E48K|CLUL1_ENST00000581619.1_Missense_Mutation_p.E73K|CLUL1_ENST00000579494.1_Missense_Mutation_p.E48K	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	48					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TGCAGATGAAGAGGTGAAGAA	0.388																																																	0													146.0	136.0	139.0					18																	619248		1884	4125	6009	SO:0001583	missense	27098			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.142G>A	18.37:g.619248G>A	ENSP00000383449:p.Glu48Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0FDN7	Missense_Mutation	SNP	pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C	p.E48K	ENST00000400606.2	37	c.142	CCDS42405.1	18	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572610	0.65765	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.29655	1.56;1.56;1.56	5.26	5.26	0.73747	Clusterin, N-terminal (1);	0.105213	0.64402	D	0.000005	T	0.54498	0.1862	M	0.70275	2.135	0.49389	D	0.999783	D;D	0.69078	0.997;0.993	D;P	0.63283	0.913;0.883	T	0.56727	-0.7931	10	0.56958	D	0.05	-9.3655	18.8592	0.92265	0.0:0.0:1.0:0.0	.	100;48	F5GWQ8;Q15846	.;CLUL1_HUMAN	K	48;100;48	ENSP00000383449:E48K;ENSP00000441726:E100K;ENSP00000341128:E48K	ENSP00000341128:E48K	E	+	1	0	CLUL1	609248	1.000000	0.71417	0.998000	0.56505	0.884000	0.51177	5.640000	0.67875	2.458000	0.83093	0.650000	0.86243	GAG	CLUL1	-	pfam_Clusterin-like,smart_Clusterin_N		0.388	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLUL1	HGNC	protein_coding	OTTHUMT00000441183.1	G			619248	+1	no_errors	ENST00000338387	ensembl	human	known	70_37	missense	SNP	1.000	A
CNKSR3	154043	genome.wustl.edu	37	6	154727587	154727587	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr6:154727587C>T	ENST00000607772.1	-	13	2113	c.1569G>A	c.(1567-1569)ggG>ggA	p.G523G	CNKSR3_ENST00000433165.2_Silent_p.G348G|CNKSR3_ENST00000479339.1_Silent_p.G443G	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	523	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TCTTTTTGGTCCCTTCCTCCT	0.562																																																	0													140.0	111.0	121.0					6																	154727587		2203	4300	6503	SO:0001819	synonymous_variant	154043			AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1569G>A	6.37:g.154727587C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SGD5|Q96N65	Silent	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM	p.G523	ENST00000607772.1	37	c.1569	CCDS5246.1	6																																																																																			CNKSR3	-	pfam_CNKSR2		0.562	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR3	HGNC	protein_coding	OTTHUMT00000042792.2	C	NM_173515		154727587	-1	no_errors	ENST00000367213	ensembl	human	known	70_37	silent	SNP	1.000	T
CNTNAP3	79937	genome.wustl.edu	37	9	39176011	39176011	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:39176011G>A	ENST00000297668.6	-	7	1079	c.1006C>T	c.(1006-1008)Ctt>Ttt	p.L336F	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.L336F|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.L336F|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.L336F|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.L248F	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	336	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTATAATAAAGATTTTCTAAA	0.403																																																	0													42.0	47.0	45.0					9																	39176011		2200	4297	6497	SO:0001583	missense	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1006C>T	9.37:g.39176011G>A	ENSP00000297668:p.Leu336Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AMA0|Q9C0E9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.L336F	ENST00000297668.6	37	c.1006	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	G	8.454	0.853776	0.17106	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	3.09	-0.0199	0.13958	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	D	0.85630	0.5741	M	0.81239	2.535	0.29430	N	0.859949	B;P;B;B;B	0.36712	0.132;0.566;0.436;0.238;0.098	B;P;B;B;B	0.47470	0.329;0.548;0.227;0.316;0.151	T	0.79926	-0.1597	9	0.56958	D	0.05	.	7.3832	0.26868	0.0:0.1499:0.3914:0.4587	.	336;336;336;336;336	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	F	336;336;248;336;336;248	ENSP00000297668:L336F;ENSP00000366884:L336F;ENSP00000350863:L248F;ENSP00000320728:L336F;ENSP00000366887:L336F	ENSP00000297668:L336F	L	-	1	0	CNTNAP3	39166011	1.000000	0.71417	0.780000	0.31762	0.277000	0.26821	1.080000	0.30779	-0.126000	0.11682	-0.378000	0.06908	CTT	CNTNAP3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.403	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	G	NM_033655		39176011	-1	no_errors	ENST00000297668	ensembl	human	known	70_37	missense	SNP	1.000	A
CNTRL	11064	genome.wustl.edu	37	9	123917084	123917084	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:123917084G>C	ENST00000373855.1	+	27	4518	c.4258G>C	c.(4258-4260)Gaa>Caa	p.E1420Q	CNTRL_ENST00000238341.5_Missense_Mutation_p.E1420Q|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373847.1_Missense_Mutation_p.E868Q|CNTRL_ENST00000373850.1_Missense_Mutation_p.E868Q			Q7Z7A1	CNTRL_HUMAN	centriolin	1420					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TATTGTAGATGAAATTGAGTG	0.388																																																	0													104.0	97.0	99.0					9																	123917084		2203	4300	6503	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4258G>C	9.37:g.123917084G>C	ENSP00000362962:p.Glu1420Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.E1420Q	ENST00000373855.1	37	c.4258	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764590	0.89932	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373847;ENST00000431571;ENST00000373845	T;T;T;T;T	0.79653	2.53;2.53;2.53;2.53;-1.29	5.58	5.58	0.84498	.	.	.	.	.	D	0.88396	0.6425	M	0.65498	2.005	0.51233	D	0.999919	D	0.76494	0.999	D	0.80764	0.994	D	0.84944	0.0867	9	0.25106	T	0.35	.	18.9177	0.92512	0.0:0.0:1.0:0.0	.	1420	Q7Z7A1	CNTRL_HUMAN	Q	1420;1420;1420;176;868;868;89;89	ENSP00000362962:E1420Q;ENSP00000238341:E1420Q;ENSP00000362956:E868Q;ENSP00000362953:E868Q;ENSP00000413014:E89Q	ENSP00000238341:E1420Q	E	+	1	0	CNTRL	122956905	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.782000	0.85680	2.769000	0.95229	0.655000	0.94253	GAA	CNTRL	-	NULL		0.388	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	G	NM_007018		123917084	+1	no_errors	ENST00000238341	ensembl	human	known	70_37	missense	SNP	1.000	C
COX4I2	84701	genome.wustl.edu	37	20	30226891	30226891	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:30226891C>G	ENST00000376075.3	+	2	146	c.71C>G	c.(70-72)tCa>tGa	p.S24*	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	24					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			ATGCACAGCTCAGAAGGCACC	0.607																																																	0													126.0	102.0	110.0					20																	30226891		2203	4300	6503	SO:0001587	stop_gained	84701			AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"""Mitochondrial respiratory chain complex / Complex IV"""	16232	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit IV-like 2"""	607976	"""cytochrome c oxidase subunit IV isoform 2"""	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.71C>G	20.37:g.30226891C>G	ENSP00000365243:p.Ser24*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GTF4|Q9H0Z4	Nonsense_Mutation	SNP	pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4	p.S24*	ENST00000376075.3	37	c.71	CCDS13187.1	20	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124588	0.56613	.	.	ENSG00000131055	ENST00000376075	.	.	.	3.99	2.99	0.34606	.	0.382426	0.23045	N	0.052564	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.4429	6.9669	0.24627	0.0:0.864:0.0:0.136	.	.	.	.	X	24	.	ENSP00000365243:S24X	S	+	2	0	COX4I2	29690552	0.677000	0.27577	0.917000	0.36280	0.008000	0.06430	1.631000	0.37092	1.168000	0.42723	-0.367000	0.07326	TCA	COX4I2	-	NULL		0.607	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX4I2	HGNC	protein_coding	OTTHUMT00000078548.1	C	NM_032609		30226891	+1	no_errors	ENST00000376075	ensembl	human	known	70_37	nonsense	SNP	0.929	G
CPSF3L	54973	genome.wustl.edu	37	1	1256019	1256019	+	Intron	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:1256019C>G	ENST00000435064.1	-	3	209				RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000545578.1_Intron|CPSF3L_ENST00000540437.1_Intron|CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000419704.1_Intron	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like						snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TGTGCAGACTCAGGCTGGGCA	0.652																																																	0																																										SO:0001627	intron_variant	54973			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.127-110G>C	1.37:g.1256019C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Nonstop_Mutation	SNP	NULL	p.*57S	ENST00000435064.1	37	c.170	CCDS21.1	1																																																																																			CPSF3L	-	NULL		0.652	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3L	HGNC	protein_coding	OTTHUMT00000009360.2	C	NM_017871		1256019	-1	no_errors	ENST00000531019	ensembl	human	known	70_37	nonstop	SNP	0.030	G
CRH	1392	genome.wustl.edu	37	8	67089290	67089290	+	Silent	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr8:67089290G>C	ENST00000276571.3	-	2	869	c.423C>G	c.(421-423)ctC>ctG	p.L141L		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	141					adrenal gland development (GO:0030325)|associative learning (GO:0008306)|cellular response to cocaine (GO:0071314)|cellular response to dexamethasone stimulus (GO:0071549)|diterpenoid metabolic process (GO:0016101)|feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|ferulate metabolic process (GO:0033494)|glucocorticoid biosynthetic process (GO:0006704)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hypothalamus development (GO:0021854)|inflammatory response (GO:0006954)|ion homeostasis (GO:0050801)|learning or memory (GO:0007611)|locomotory exploration behavior (GO:0035641)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|lung development (GO:0030324)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell death (GO:0060548)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gene expression (GO:0010629)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of luteinizing hormone secretion (GO:0033685)|negative regulation of norepinephrine secretion (GO:0010700)|parturition (GO:0007567)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of digestive system process (GO:0060456)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein phosphorylation (GO:0001934)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of serotonin secretion (GO:0014062)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to immobilization stress (GO:0035902)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|varicosity (GO:0043196)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	GGTGGCCGCCGAGGGCATTCC	0.672											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													25.0	20.0	22.0					8																	67089290		2203	4299	6502	SO:0001819	synonymous_variant	1392				CCDS6188.1	8q13	2013-02-25				ENSG00000147571		"""Endogenous ligands"""	2355	protein-coding gene	gene with protein product	"""corticotropin-releasing factor"", ""corticoliberin"""	122560					Standard	NM_000756		Approved	CRF	uc003xvy.2	P06850		ENST00000276571.3:c.423C>G	8.37:g.67089290G>C		Somatic	1096	WXS	Illumina HiSeq	Phase_IV	B3KQS4	Silent	SNP	pfam_Corticotropin-releasing_factor,smart_Corticotropin-releasing_factor,prints_Urocortin_CRF	p.L141	ENST00000276571.3	37	c.423	CCDS6188.1	8																																																																																			CRH	-	NULL		0.672	CRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRH	HGNC	protein_coding	OTTHUMT00000378926.1	G	NM_000756		67089290	-1	no_errors	ENST00000276571	ensembl	human	known	70_37	silent	SNP	0.039	C
CSTF2	1478	genome.wustl.edu	37	X	100088222	100088222	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:100088222G>T	ENST00000372972.2	+	11	1277	c.1261G>T	c.(1261-1263)Gag>Tag	p.E421*	CSTF2_ENST00000415585.2_Nonsense_Mutation_p.E441*	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	421	12 X 5 AA tandem repeats of M-E-A-R-[AG].				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CCGAGCCATGGAGGCAAGAGG	0.547																																																	0													49.0	40.0	43.0					X																	100088222		2203	4300	6503	SO:0001587	stop_gained	1478			BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.1261G>T	X.37:g.100088222G>T	ENSP00000362063:p.Glu421*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5H951|Q6LA74|Q8N502	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E441*	ENST00000372972.2	37	c.1321	CCDS14473.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.082670	0.97267	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320	.	.	.	5.25	5.25	0.73442	.	0.279727	0.31797	N	0.007054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-5.3991	13.6912	0.62547	0.0:0.1503:0.8497:0.0	.	.	.	.	X	441;421;397	.	ENSP00000362063:E421X	E	+	1	0	CSTF2	99974878	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.894000	0.69806	2.190000	0.69967	0.506000	0.49869	GAG	CSTF2	-	NULL		0.547	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2	HGNC	protein_coding	OTTHUMT00000058926.1	G	NM_001325		100088222	+1	no_errors	ENST00000415585	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CTAGE4	100128553	genome.wustl.edu	37	7	143882559	143882559	+	Missense_Mutation	SNP	A	A	G	rs199840651	byFrequency	TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr7:143882559A>G	ENST00000486333.1	+	1	2001	c.1963A>G	c.(1963-1965)Agg>Ggg	p.R655G		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	655				R -> G (in Ref. 3; AAN77609). {ECO:0000305}.		integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						TAAAATGGATAGGTCAATGCC	0.383																																																	0													1.0	1.0	1.0					7																	143882559		6	28	34	SO:0001583	missense	100128553			AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 4"""	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.1963A>G	7.37:g.143882559A>G	ENSP00000419539:p.Arg655Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K871|O95046	Missense_Mutation	SNP	superfamily_tRNA-bd_arm	p.R655G	ENST00000486333.1	37	c.1963	CCDS55176.1	7	.	.	.	.	.	.	.	.	.	.	.	1.204	-0.631620	0.03584	.	.	ENSG00000225932	ENST00000486333	T	0.38722	1.12	.	.	.	.	.	.	.	.	T	0.04363	0.0120	N	0.00013	-2.935	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.23940	-1.0174	6	0.02654	T	1	.	.	.	.	.	655	Q8IX94	CTGE4_HUMAN	G	655	ENSP00000419539:R655G	ENSP00000419539:R655G	R	+	1	2	CTAGE4	143513492	0.344000	0.24827	0.052000	0.19188	0.052000	0.14988	-0.198000	0.09505	-1.345000	0.02214	-1.352000	0.01234	AGG	CTAGE4	-	NULL		0.383	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE4	HGNC	protein_coding	OTTHUMT00000349970.1	A	NM_198495		143882559	+1	no_errors	ENST00000486333	ensembl	human	known	70_37	missense	SNP	0.062	G
CTNNA3	29119	genome.wustl.edu	37	10	69407184	69407184	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:69407184G>C	ENST00000433211.2	-	2	262	c.88C>G	c.(88-90)Ctc>Gtc	p.L30V	CTNNA3_ENST00000545309.1_Missense_Mutation_p.L30V|CTNNA3_ENST00000373744.4_Missense_Mutation_p.L30V	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGGATTATGAGAGGCTCCAGT	0.378																																																	0													121.0	117.0	118.0					10																	69407184		2203	4300	6503	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.88C>G	10.37:g.69407184G>C	ENSP00000389714:p.Leu30Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.L30V	ENST00000433211.2	37	c.88	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037262	0.75617	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.71	5.71	0.89125	.	0.000000	0.56097	D	0.000033	T	0.56247	0.1972	M	0.71036	2.16	0.43574	D	0.995907	D;D;D	0.89917	0.997;1.0;0.979	D;D;D	0.80764	0.992;0.994;0.973	T	0.57820	-0.7745	10	0.87932	D	0	-8.0762	16.7673	0.85527	0.0:0.0:1.0:0.0	.	30;30;30	F2Z2R0;Q9UI47-2;Q9UI47	.;.;CTNA3_HUMAN	V	30	ENSP00000389714:L30V;ENSP00000362849:L30V;ENSP00000441444:L30V;ENSP00000330570:L30V	ENSP00000330570:L30V	L	-	1	0	CTNNA3	69077190	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.057000	0.41365	2.688000	0.91661	0.655000	0.94253	CTC	CTNNA3	-	pfam_Vinculin/catenin,prints_Alpha_catenin		0.378	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	G	NM_013266		69407184	-1	no_errors	ENST00000373744	ensembl	human	known	70_37	missense	SNP	1.000	C
CXorf21	80231	genome.wustl.edu	37	X	30577710	30577710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:30577710G>A	ENST00000378962.3	-	3	1085	c.763C>T	c.(763-765)Caa>Taa	p.Q255*		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	255										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CTAGACACTTGAAGACTGATT	0.403																																																	0													99.0	88.0	92.0					X																	30577710		2202	4300	6502	SO:0001587	stop_gained	80231			BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.763C>T	X.37:g.30577710G>A	ENSP00000368245:p.Gln255*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	NULL	p.Q255*	ENST00000378962.3	37	c.763	CCDS14224.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.303400	0.97458	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.11	4.21	0.49690	.	0.067962	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-7.5846	12.7882	0.57518	0.0:0.0:0.7183:0.2817	.	.	.	.	X	255	.	ENSP00000368245:Q255X	Q	-	1	0	CXorf21	30487631	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.931000	0.70113	2.351000	0.79841	0.513000	0.50165	CAA	CXorf21	-	NULL		0.403	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf21	HGNC	protein_coding	OTTHUMT00000056164.1	G	NM_025159		30577710	-1	no_errors	ENST00000378962	ensembl	human	known	70_37	nonsense	SNP	0.990	A
DCAF6	55827	genome.wustl.edu	37	1	167973897	167973897	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:167973897C>T	ENST00000312263.6	+	10	1448	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F	DCAF6_ENST00000367840.3_Missense_Mutation_p.S415F|DCAF6_ENST00000367843.3_Missense_Mutation_p.S415F|DCAF6_ENST00000432587.2_Missense_Mutation_p.S384F	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	415					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						tctacatcctctacaatgtca	0.453																																																	0													91.0	81.0	85.0					1																	167973897		2203	4300	6503	SO:0001583	missense	55827			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1244C>T	1.37:g.167973897C>T	ENSP00000311949:p.Ser415Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.S415F	ENST00000312263.6	37	c.1244	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063534	0.55432	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;T;D;D	0.82255	-1.58;0.14;-1.53;-1.59	5.17	5.17	0.71159	WD40 repeat-like-containing domain (1);	0.290993	0.33938	N	0.004420	D	0.82875	0.5132	L	0.40543	1.245	0.47123	D	0.999324	P;D;P;P	0.57571	0.917;0.98;0.668;0.489	P;P;B;B	0.58331	0.603;0.837;0.242;0.324	D	0.84481	0.0605	9	0.56958	D	0.05	.	17.2269	0.86973	0.0:1.0:0.0:0.0	.	384;415;415;415	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	F	415;384;415;415	ENSP00000356817:S415F;ENSP00000396238:S384F;ENSP00000311949:S415F;ENSP00000356814:S415F	ENSP00000311949:S415F	S	+	2	0	DCAF6	166240521	0.938000	0.31826	0.501000	0.27601	0.993000	0.82548	3.731000	0.55013	2.552000	0.86080	0.555000	0.69702	TCT	DCAF6	-	superfamily_WD40_repeat_dom		0.453	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	C	NM_018442		167973897	+1	no_errors	ENST00000367840	ensembl	human	known	70_37	missense	SNP	0.986	T
DCP1A	55802	genome.wustl.edu	37	3	53346369	53346369	+	Missense_Mutation	SNP	G	G	A	rs115623412	byFrequency	TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:53346369G>A	ENST00000607628.1	-	5	521	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Missense_Mutation_p.R138W|DCP1A_ENST00000606822.1_Missense_Mutation_p.R138W	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	138					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		TGTTTGTCCCGAGCAGCTTGC	0.527													G|||	2	0.000399361	0.0015	0.0	5008	,	,		12511	0.0		0.0	False		,,,				2504	0.0																0								G	TRP/ARG	1,3967		0,1,1983	52.0	54.0	54.0		412	2.6	1.0	3	dbSNP_132	54	0,8314		0,0,4157	no	missense	DCP1A	NM_018403.5	101	0,1,6140	AA,AG,GG		0.0,0.0252,0.0081	probably-damaging	138/585	53346369	1,12281	1984	4157	6141	SO:0001583	missense	55802			AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.412C>T	3.37:g.53346369G>A	ENSP00000475920:p.Arg138Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DHN9|U3KQM8	RNA	SNP	-	NULL	ENST00000607628.1	37	NULL		3																																																																																			DCP1A	-	-		0.527	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	DCP1A	HGNC	protein_coding		G	NM_018403		53346369	-1	no_errors	ENST00000294241	ensembl	human	known	70_37	rna	SNP	0.811	A
DDHD1	80821	genome.wustl.edu	37	14	53522414	53522414	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:53522414C>T	ENST00000323669.5	-	10	2208	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	DDHD1_ENST00000395606.1_Missense_Mutation_p.E744K|DDHD1_ENST00000357758.3_Missense_Mutation_p.E737K|DDHD1_ENST00000555621.1_5'Flank	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	737	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GTTATAGATTCTCCATAGTGT	0.408																																																	0													156.0	159.0	158.0					14																	53522414		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.2209G>A	14.37:g.53522414C>T	ENSP00000327104:p.Glu737Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	pfam_DDHD,pfscan_DDHD	p.E737K	ENST00000323669.5	37	c.2209	CCDS53895.1	14	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007304	0.93287	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.97	5.97	0.96955	DDHD (2);	0.000000	0.85682	D	0.000000	T	0.78246	0.4253	M	0.68317	2.08	0.80722	D	1	D;P;D;D	0.76494	0.999;0.532;0.999;0.967	D;B;D;P	0.87578	0.975;0.263;0.998;0.578	T	0.71265	-0.4644	9	0.22706	T	0.39	-21.374	20.4239	0.99064	0.0:1.0:0.0:0.0	.	133;744;737;737	Q2VYF2;G5E9D1;Q8NEL9;Q8NEL9-2	.;.;DDHD1_HUMAN;.	K	737;744;737;608	.	ENSP00000327104:E737K	E	-	1	0	DDHD1	52592164	1.000000	0.71417	0.998000	0.56505	0.733000	0.41908	7.796000	0.85898	2.828000	0.97474	0.655000	0.94253	GAA	DDHD1	-	pfam_DDHD,pfscan_DDHD		0.408	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	HGNC	protein_coding	OTTHUMT00000276901.1	C			53522414	-1	no_errors	ENST00000323669	ensembl	human	known	70_37	missense	SNP	1.000	T
DGCR8	54487	genome.wustl.edu	37	22	20074120	20074120	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr22:20074120G>C	ENST00000351989.3	+	2	1063	c.634G>C	c.(634-636)Gat>Cat	p.D212H	DGCR8_ENST00000383024.2_Missense_Mutation_p.D212H|MIR1306_ENST00000408439.1_RNA|DGCR8_ENST00000407755.1_Missense_Mutation_p.D212H|MIR3618_ENST00000580330.1_RNA	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	212	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TTTGGAGCTAGATGAAGAAGG	0.473																																																	0													126.0	138.0	134.0					22																	20074120		2203	4300	6503	SO:0001583	missense	54487			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.634G>C	22.37:g.20074120G>C	ENSP00000263209:p.Asp212His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	pfam_Ds-RNA-bd,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Ds-RNA-bd,pfscan_WW_Rsp5_WWP,pfscan_Ds-RNA-bd	p.D212H	ENST00000351989.3	37	c.634	CCDS13773.1	22	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531787	0.64972	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.37915	1.21;1.17;1.17	5.42	5.42	0.78866	.	0.147988	0.64402	D	0.000012	T	0.48926	0.1527	L	0.40543	1.245	0.80722	D	1	D;D	0.59767	0.986;0.976	P;P	0.57720	0.826;0.674	T	0.43426	-0.9392	10	0.62326	D	0.03	-18.9382	18.9993	0.92826	0.0:0.0:1.0:0.0	.	212;212	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	H	212	ENSP00000263209:D212H;ENSP00000372488:D212H;ENSP00000384726:D212H	ENSP00000263209:D212H	D	+	1	0	DGCR8	18454120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.954000	0.93051	2.826000	0.97356	0.491000	0.48974	GAT	DGCR8	-	NULL		0.473	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR8	HGNC	protein_coding	OTTHUMT00000318654.1	G			20074120	+1	no_errors	ENST00000351989	ensembl	human	known	70_37	missense	SNP	1.000	C
DLG3	1741	genome.wustl.edu	37	X	69699014	69699014	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:69699014G>C	ENST00000374360.3	+	10	1653	c.1420G>C	c.(1420-1422)Gaa>Caa	p.E474Q	DLG3_ENST00000542398.1_5'UTR|DLG3_ENST00000374355.3_Missense_Mutation_p.E137Q|DLG3_ENST00000194900.4_Missense_Mutation_p.E492Q	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	474					axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CAGTCGCTTTGAATCGAAGAT	0.473																																																	0													149.0	133.0	138.0					X																	69699014		2203	4300	6503	SO:0001583	missense	1741			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1420G>C	X.37:g.69699014G>C	ENSP00000363480:p.Glu474Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.E492Q	ENST00000374360.3	37	c.1474	CCDS14403.1	X	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735812	0.89482	.	.	ENSG00000082458	ENST00000194900;ENST00000374360;ENST00000374355	T;T;T	0.18338	2.54;2.52;2.22	5.28	5.28	0.74379	PDZ/DHR/GLGF (1);	0.000000	0.64402	U	0.000001	T	0.43590	0.1254	M	0.82716	2.605	0.80722	D	1	P;D	0.71674	0.905;0.998	P;P	0.62813	0.524;0.907	T	0.42361	-0.9456	9	.	.	.	.	16.3922	0.83543	0.0:0.0:1.0:0.0	.	137;474	Q5JUW6;Q92796	.;DLG3_HUMAN	Q	492;474;137	ENSP00000194900:E492Q;ENSP00000363480:E474Q;ENSP00000363475:E137Q	.	E	+	1	0	DLG3	69615739	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.883000	0.92426	2.439000	0.82584	0.600000	0.82982	GAA	DLG3	-	superfamily_PDZ,pirsf_M-assoc_guanylate_kinase		0.473	DLG3-001	KNOWN	basic|CCDS	protein_coding	DLG3	HGNC	protein_coding	OTTHUMT00000057074.2	G	NM_021120		69699014	+1	no_errors	ENST00000194900	ensembl	human	known	70_37	missense	SNP	1.000	C
DMRT2	10655	genome.wustl.edu	37	9	1053808	1053808	+	Silent	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:1053808C>G	ENST00000358146.2	+	2	612	c.612C>G	c.(610-612)gcC>gcG	p.A204A	DMRT2_ENST00000412350.2_Silent_p.A204A|DMRT2_ENST00000259622.6_Silent_p.A204A|DMRT2_ENST00000382255.3_Silent_p.A204A|DMRT2_ENST00000382251.3_Silent_p.A204A|DMRT2_ENST00000302441.6_Silent_p.A204A			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	204					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		GTTTGCTGGCCAAAAGCATTT	0.418																																																	0													70.0	73.0	72.0					9																	1053808		2203	4300	6503	SO:0001819	synonymous_variant	10655			AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.612C>G	9.37:g.1053808C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Silent	SNP	pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.A204	ENST00000358146.2	37	c.612	CCDS6444.1	9																																																																																			DMRT2	-	NULL		0.418	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT2	HGNC	protein_coding	OTTHUMT00000051492.1	C	NM_006557		1053808	+1	no_errors	ENST00000302441	ensembl	human	known	70_37	silent	SNP	1.000	G
DMXL1	1657	genome.wustl.edu	37	5	118560455	118560455	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:118560455C>G	ENST00000311085.8	+	37	8346	c.8266C>G	c.(8266-8268)Ctt>Gtt	p.L2756V	DMXL1_ENST00000539542.1_Missense_Mutation_p.L2777V|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2756										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCATCCAACTCTTCCTTACTG	0.254																																																	0													59.0	64.0	62.0					5																	118560455		2176	4245	6421	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8266C>G	5.37:g.118560455C>G	ENSP00000309690:p.Leu2756Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L2777V	ENST00000311085.8	37	c.8329	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379399	0.61845	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01323	5.01;5.01	5.22	5.22	0.72569	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.07188	0.0182	M	0.71036	2.16	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.975	T	0.38023	-0.9680	10	0.30854	T	0.27	-15.4786	14.1086	0.65107	0.0:0.9249:0.0:0.075	.	2777;2756	F5H269;Q9Y485	.;DMXL1_HUMAN	V	2756;2777	ENSP00000309690:L2756V;ENSP00000439479:L2777V	ENSP00000309690:L2756V	L	+	1	0	DMXL1	118588354	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	3.749000	0.55150	2.425000	0.82216	0.484000	0.47621	CTT	DMXL1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.254	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	C	NM_005509		118560455	+1	no_errors	ENST00000539542	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAH2	146754	genome.wustl.edu	37	17	7701881	7701881	+	Nonsense_Mutation	SNP	A	A	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:7701881A>T	ENST00000572933.1	+	55	9864	c.8404A>T	c.(8404-8406)Aag>Tag	p.K2802*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.K2802*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2802	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCCAGATATCAAGCGTCTGTA	0.537																																																	0													73.0	70.0	71.0					17																	7701881		2203	4300	6503	SO:0001587	stop_gained	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8404A>T	17.37:g.7701881A>T	ENSP00000458355:p.Lys2802*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.K2802*	ENST00000572933.1	37	c.8404	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	A	50	16.909671	0.99875	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3298	0.74200	1.0:0.0:0.0:0.0	.	.	.	.	X	2802	.	ENSP00000353818:K2802X	K	+	1	0	DNAH2	7642606	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.336000	0.90033	2.266000	0.75297	0.454000	0.30748	AAG	DNAH2	-	NULL		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	A	NM_020877		7701881	+1	no_errors	ENST00000389173	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DNAH9	1770	genome.wustl.edu	37	17	11573101	11573101	+	Missense_Mutation	SNP	G	G	A	rs143003954	byFrequency	TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:11573101G>A	ENST00000262442.4	+	17	3411	c.3343G>A	c.(3343-3345)Gtc>Atc	p.V1115I	DNAH9_ENST00000454412.2_Missense_Mutation_p.V1115I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1115	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGTGGACCACGTCACTCACAG	0.418																																																	0								G	ILE/VAL	0,4390		0,0,2195	130.0	129.0	129.0		3343	4.9	1.0	17	dbSNP_134	129	2,8592		0,2,4295	yes	missense	DNAH9	NM_001372.3	29	0,2,6490	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1115/4487	11573101	2,12982	2195	4297	6492	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3343G>A	17.37:g.11573101G>A	ENSP00000262442:p.Val1115Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.V1115I	ENST00000262442.4	37	c.3343	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630546	0.87660	0.0	2.33E-4	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.27720	1.69;1.65	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000001	T	0.56834	0.2012	M	0.84846	2.72	0.80722	D	1	D	0.67145	0.996	P	0.57720	0.826	T	0.66135	-0.5999	10	0.72032	D	0.01	.	18.4238	0.90602	0.0:0.0:1.0:0.0	.	1115	Q9NYC9	DYH9_HUMAN	I	1115	ENSP00000262442:V1115I;ENSP00000414874:V1115I	ENSP00000262442:V1115I	V	+	1	0	DNAH9	11513826	1.000000	0.71417	0.971000	0.41717	0.709000	0.40893	9.765000	0.98953	2.407000	0.81776	0.591000	0.81541	GTC	DNAH9	-	NULL		0.418	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	G	NM_001372		11573101	+1	no_errors	ENST00000262442	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAJB6	10049	genome.wustl.edu	37	7	157160168	157160168	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr7:157160168G>C	ENST00000262177.4	+	5	542	c.337G>C	c.(337-339)Gac>Cac	p.D113H	DNAJB6_ENST00000452797.2_Missense_Mutation_p.D64H|DNAJB6_ENST00000429029.2_Missense_Mutation_p.D113H|DNAJB6_ENST00000443280.1_Missense_Mutation_p.D113H	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	113	Gly/Phe-rich.|Interaction with HSP70.				intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ATTTTCATTTGACTTCTTTGG	0.403																																					Esophageal Squamous(46;195 967 1350 20350 43814)												0													121.0	112.0	115.0					7																	157160168		2203	4300	6503	SO:0001583	missense	10049			AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"""Heat shock proteins / DNAJ (HSP40)"""	14888	protein-coding gene	gene with protein product		611332	"""limb girdle muscular dystrophy 1D (autosomal dominant)"""	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.337G>C	7.37:g.157160168G>C	ENSP00000262177:p.Asp113His	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.D113H	ENST00000262177.4	37	c.337	CCDS5946.1	7	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270772	0.40194	.	.	ENSG00000105993	ENST00000441561;ENST00000429029;ENST00000262177;ENST00000417758;ENST00000452797;ENST00000443280;ENST00000421417;ENST00000412557	T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	4.58	4.58	0.56647	.	8.063560	0.00357	N	0.000025	D	0.85500	0.5711	M	0.64404	1.975	0.43385	D	0.995496	B;D;D;D;P	0.67145	0.204;0.996;0.983;0.983;0.693	B;D;P;P;P	0.63877	0.099;0.919;0.65;0.65;0.582	T	0.73088	-0.4093	10	0.13108	T	0.6	.	17.7679	0.88483	0.0:0.0:1.0:0.0	.	113;64;113;113;113	E9PH18;B4DN73;A8KAG0;O75190;O75190-2	.;.;.;DNJB6_HUMAN;.	H	113;113;113;113;64;113;113;113	ENSP00000410643:D113H;ENSP00000397556:D113H;ENSP00000262177:D113H;ENSP00000400665:D113H;ENSP00000402270:D64H;ENSP00000396267:D113H;ENSP00000403407:D113H	ENSP00000262177:D113H	D	+	1	0	DNAJB6	156852929	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	6.817000	0.75252	2.250000	0.74265	0.655000	0.94253	GAC	DNAJB6	-	NULL		0.403	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	DNAJB6	HGNC	protein_coding	OTTHUMT00000348119.2	G			157160168	+1	no_errors	ENST00000262177	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAJC13	23317	genome.wustl.edu	37	3	132184866	132184866	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:132184866C>T	ENST00000260818.6	+	18	2168	c.1920C>T	c.(1918-1920)ctC>ctT	p.L640L	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	640					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TAGTGGGACTCTGGACAGCTG	0.348																																																	0													76.0	74.0	75.0					3																	132184866		2203	4300	6503	SO:0001819	synonymous_variant	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1920C>T	3.37:g.132184866C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.L640	ENST00000260818.6	37	c.1920	CCDS33857.1	3																																																																																			DNAJC13	-	superfamily_ARM-type_fold		0.348	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	C	NM_015268		132184866	+1	no_errors	ENST00000260818	ensembl	human	known	70_37	silent	SNP	1.000	T
DNAJC16	23341	genome.wustl.edu	37	1	15863294	15863294	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:15863294G>T	ENST00000375847.3	+	4	723	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	DNAJC16_ENST00000375838.1_Nonsense_Mutation_p.E187*|DNAJC16_ENST00000375849.1_Nonsense_Mutation_p.E187*	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	187	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGTCATTCAAGAACTGGAAGA	0.393																																																	0													63.0	63.0	63.0					1																	15863294		2203	4300	6503	SO:0001587	stop_gained	23341			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.559G>T	1.37:g.15863294G>T	ENSP00000365007:p.Glu187*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68D57|Q86X32|Q8N5P4	Nonsense_Mutation	SNP	pfam_DnaJ_N,pfam_Thioredoxin_domain,superfamily_DnaJ_N,superfamily_Thioredoxin-like_fold,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E187*	ENST00000375847.3	37	c.559	CCDS30606.1	1	.	.	.	.	.	.	.	.	.	.	G	37	5.986283	0.97173	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-24.1489	18.0061	0.89210	0.0:0.0:1.0:0.0	.	.	.	.	X	187	.	ENSP00000364998:E187X	E	+	1	0	DNAJC16	15735881	1.000000	0.71417	0.998000	0.56505	0.623000	0.37688	8.540000	0.90641	2.660000	0.90430	0.655000	0.94253	GAA	DNAJC16	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.393	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC16	HGNC	protein_coding	OTTHUMT00000006764.1	G	NM_015291		15863294	+1	no_errors	ENST00000375847	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DOCK1	1793	genome.wustl.edu	37	10	129216661	129216661	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:129216661G>A	ENST00000280333.6	+	45	4594	c.4485G>A	c.(4483-4485)gaG>gaA	p.E1495E		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1495	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATGCCATTGAGACCATGCAGC	0.597																																																	0													55.0	65.0	61.0					10																	129216661		2196	4299	6495	SO:0001819	synonymous_variant	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4485G>A	10.37:g.129216661G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1Z5	Silent	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.E1495	ENST00000280333.6	37	c.4485		10																																																																																			DOCK1	-	pfam_DOCK_C		0.597	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	G	NM_001380		129216661	+1	no_errors	ENST00000280333	ensembl	human	known	70_37	silent	SNP	1.000	A
DOCK10	55619	genome.wustl.edu	37	2	225729288	225729288	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:225729288C>G	ENST00000258390.7	-	13	1651	c.1584G>C	c.(1582-1584)aaG>aaC	p.K528N	DOCK10_ENST00000409592.3_Missense_Mutation_p.K522N	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	528					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGTCTGGGTTCTTAATATAAG	0.373																																																	0													68.0	62.0	64.0					2																	225729288		1820	4085	5905	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1584G>C	2.37:g.225729288C>G	ENSP00000258390:p.Lys528Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K528N	ENST00000258390.7	37	c.1584	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661410	0.67700	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.52983	0.64;0.64	5.74	2.89	0.33648	.	0.000000	0.85682	D	0.000000	T	0.68081	0.2962	M	0.87547	2.89	0.44000	D	0.996707	D;D;D	0.65815	0.974;0.995;0.983	P;D;P	0.64687	0.701;0.928;0.791	T	0.73148	-0.4074	10	0.87932	D	0	.	11.2609	0.49083	0.0:0.7871:0.0:0.2128	.	528;528;522	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	N	522;528	ENSP00000386694:K522N;ENSP00000258390:K528N	ENSP00000258390:K528N	K	-	3	2	DOCK10	225437532	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.530000	0.36007	0.870000	0.35726	0.650000	0.86243	AAG	DOCK10	-	NULL		0.373	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	C			225729288	-1	no_errors	ENST00000258390	ensembl	human	known	70_37	missense	SNP	1.000	G
DOCK8	81704	genome.wustl.edu	37	9	418177	418177	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:418177G>A	ENST00000453981.1	+	30	3922	c.3810G>A	c.(3808-3810)ttG>ttA	p.L1270L	DOCK8_ENST00000432829.2_Silent_p.L1202L|DOCK8_ENST00000382329.1_Silent_p.L737L|DOCK8_ENST00000469391.1_Silent_p.L1170L			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1270					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATTTCAATTTGAAAACAAGTG	0.438																																																	0													282.0	272.0	275.0					9																	418177		2203	4300	6503	SO:0001819	synonymous_variant	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3810G>A	9.37:g.418177G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.L1270	ENST00000453981.1	37	c.3810	CCDS6440.2	9																																																																																			DOCK8	-	NULL		0.438	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	G	XM_036307		418177	+1	no_errors	ENST00000453981	ensembl	human	known	70_37	silent	SNP	1.000	A
DOT1L	84444	genome.wustl.edu	37	19	2226332	2226332	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:2226332C>T	ENST00000398665.3	+	27	3848	c.3812C>T	c.(3811-3813)tCc>tTc	p.S1271F		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1271					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCAGAACTCCCTGTTCACG	0.682																																																	0													12.0	15.0	14.0					19																	2226332		2013	4159	6172	SO:0001583	missense	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3812C>T	19.37:g.2226332C>T	ENSP00000381657:p.Ser1271Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.S1271F	ENST00000398665.3	37	c.3812	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160083	0.57368	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.37058	1.65;1.22	4.41	4.41	0.53225	.	0.278577	0.25964	N	0.027177	T	0.50769	0.1635	L	0.54323	1.7	0.32682	N	0.515297	D;P	0.71674	0.998;0.946	P;P	0.58013	0.831;0.735	T	0.64774	-0.6328	10	0.87932	D	0	-19.6928	16.359	0.83246	0.0:1.0:0.0:0.0	.	1271;1271	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	F	1271;1271;151	ENSP00000381657:S1271F;ENSP00000407411:S151F	ENSP00000221482:S1271F	S	+	2	0	DOT1L	2177332	1.000000	0.71417	0.891000	0.34965	0.109000	0.19521	3.232000	0.51302	2.180000	0.69256	0.561000	0.74099	TCC	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met		0.682	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	C	NM_032482		2226332	+1	no_errors	ENST00000398665	ensembl	human	known	70_37	missense	SNP	1.000	T
DSCAM	1826	genome.wustl.edu	37	21	41684283	41684283	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr21:41684283G>A	ENST00000400454.1	-	9	2264	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	596	Ig-like C2-type 7.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TATGAAAGGCGGAACTGCAAG	0.448																																					Melanoma(134;970 1778 1785 21664 32388)												0													32.0	30.0	30.0					21																	41684283		1868	4107	5975	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1787C>T	21.37:g.41684283G>A	ENSP00000383303:p.Pro596Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P596L	ENST00000400454.1	37	c.1787	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444192	0.63067	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.64803	-0.12;-0.12	5.23	4.34	0.51931	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84483	0.0606	10	0.66056	D	0.02	.	13.3317	0.60490	0.076:0.0:0.924:0.0	.	596	O60469	DSCAM_HUMAN	L	596;348	ENSP00000383303:P596L;ENSP00000385342:P348L	ENSP00000383303:P596L	P	-	2	0	DSCAM	40606153	1.000000	0.71417	0.988000	0.46212	0.572000	0.35998	9.692000	0.98682	1.185000	0.42971	0.563000	0.77884	CCG	DSCAM	-	pfscan_Ig-like		0.448	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	G	NM_001389		41684283	-1	no_errors	ENST00000400454	ensembl	human	known	70_37	missense	SNP	0.999	A
DUOXA1	90527	genome.wustl.edu	37	15	45411371	45411371	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:45411371G>C	ENST00000560572.1	-	6	970	c.965C>G	c.(964-966)tCa>tGa	p.S322*	DUOXA1_ENST00000430224.2_Nonsense_Mutation_p.S277*|DUOXA1_ENST00000267803.4_Nonsense_Mutation_p.S322*|DUOXA1_ENST00000559014.1_Nonsense_Mutation_p.S322*|DUOXA1_ENST00000558422.1_Nonsense_Mutation_p.S277*|DUOXA1_ENST00000558996.1_Nonsense_Mutation_p.S277*	NM_001276266.1	NP_001263195.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	322					hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		GGAAGCCTCTGACAGGGGAAT	0.577																																																	0													103.0	104.0	104.0					15																	45411371		2198	4298	6496	SO:0001587	stop_gained	90527			BC029819	CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1	15q21.1	2006-11-29	2006-01-23	2006-07-25	ENSG00000140254	ENSG00000140254			26507	protein-coding gene	gene with protein product		612771				16651268	Standard	NM_144565		Approved	FLJ32334, NUMBIP, NIP, mol	uc010bec.4	Q1HG43	OTTHUMG00000131352	ENST00000560572.1:c.965C>G	15.37:g.45411371G>C	ENSP00000454084:p.Ser322*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N6K9|Q96MI4	Nonsense_Mutation	SNP	pfam_Dual_oxidase_maturation_fac	p.S322*	ENST00000560572.1	37	c.965		15	.	.	.	.	.	.	.	.	.	.	G	32	5.161757	0.94727	.	.	ENSG00000140254	ENST00000267803;ENST00000430224	.	.	.	5.95	4.1	0.47936	.	0.208219	0.33057	N	0.005326	.	.	.	.	.	.	0.51012	D	0.999905	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-3.2335	9.2981	0.37829	0.1619:0.0:0.8381:0.0	.	.	.	.	X	322;277	.	ENSP00000267803:S322X	S	-	2	0	DUOXA1	43198663	0.338000	0.24775	0.963000	0.40424	0.103000	0.19146	1.227000	0.32576	0.867000	0.35654	0.655000	0.94253	TCA	DUOXA1	-	NULL		0.577	DUOXA1-005	KNOWN	basic|appris_principal	protein_coding	DUOXA1	HGNC	protein_coding	OTTHUMT00000416242.1	G	NM_144565		45411371	-1	no_errors	ENST00000267803	ensembl	human	known	70_37	nonsense	SNP	0.996	C
DUSP11	8446	genome.wustl.edu	37	2	74007169	74007169	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:74007169C>A	ENST00000272444.3	-	1	115	c.74G>T	c.(73-75)gGc>gTc	p.G25V	DUSP11_ENST00000377706.4_5'UTR|DUSP11_ENST00000443070.1_Missense_Mutation_p.G25V|DUSP11_ENST00000480948.1_5'Flank	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	0					peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						GCCCTCAATGCCAGGATAAGA	0.632											OREG0014714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													32.0	42.0	39.0					2																	74007169		692	1591	2283	SO:0001583	missense	8446			AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.74G>T	2.37:g.74007169C>A	ENSP00000272444:p.Gly25Val	Somatic	1149	WXS	Illumina HiSeq	Phase_IV	B2RCT8|Q6AI47|Q9BWE3	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase	p.G25V	ENST00000272444.3	37	c.74	CCDS1928.2	2	.	.	.	.	.	.	.	.	.	.	C	15.31	2.797074	0.50208	.	.	ENSG00000144048	ENST00000272444;ENST00000443070	T	0.39056	1.1	4.38	2.3	0.28687	.	.	.	.	.	T	0.23688	0.0573	N	0.08118	0	0.21697	N	0.999584	B	0.18310	0.027	B	0.11329	0.006	T	0.23013	-1.0200	9	0.87932	D	0	.	9.6181	0.39704	0.5131:0.4869:0.0:0.0	.	25	C9JYA6	.	V	25	ENSP00000413444:G25V	ENSP00000272444:G25V	G	-	2	0	DUSP11	73860677	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.501000	0.22578	0.575000	0.29434	0.655000	0.94253	GGC	DUSP11	-	NULL		0.632	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP11	HGNC	protein_coding	OTTHUMT00000252047.3	C			74007169	-1	no_errors	ENST00000272444	ensembl	human	known	70_37	missense	SNP	0.001	A
DUSP15	128853	genome.wustl.edu	37	20	30436311	30436311	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:30436311G>A	ENST00000278979.3	-	10	860	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	FOXS1_ENST00000375978.3_5'Flank			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	262					positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCATCTGGGCGCTCGGTTGAG	0.632																																																	0													24.0	23.0	23.0					20																	30436311		876	1990	2866	SO:0001583	missense	128853				CCDS13193.1, CCDS42862.1	20q11.21	2011-06-09	2005-03-09		ENSG00000149599	ENSG00000149599		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16236	protein-coding gene	gene with protein product			"""dual specificity phosphatase-like 15"""			15138252	Standard	NM_080611		Approved	bA243J16.6, VHY	uc002wwx.1	Q9H1R2	OTTHUMG00000032182	ENST00000278979.3:c.784C>T	20.37:g.30436311G>A	ENSP00000278979:p.Arg262Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NH79|A8MVC8|Q5QP62|Q5QP63|Q5QP65|Q6PGN7|Q8N826|Q9BX24	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,superfamily_SMAD_FHA_domain,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP	p.R262C	ENST00000278979.3	37	c.784		20	.	.	.	.	.	.	.	.	.	.	G	2.692	-0.272986	0.05716	.	.	ENSG00000149599	ENST00000278979	T	0.04917	3.53	3.45	-6.9	0.01655	.	2.167020	0.03222	U	0.177671	T	0.05273	0.0140	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35101	-0.9802	9	0.87932	D	0	.	7.2205	0.25983	0.3773:0.3573:0.2655:0.0	.	262	Q9H1R2	DUS15_HUMAN	C	262	ENSP00000278979:R262C	ENSP00000278979:R262C	R	-	1	0	DUSP15	29899972	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.031000	0.00309	-2.410000	0.00572	-1.449000	0.01048	CGC	DUSP15	-	NULL		0.632	DUSP15-004	KNOWN	basic	protein_coding	DUSP15	HGNC	protein_coding	OTTHUMT00000078555.3	G	NM_080611		30436311	-1	no_errors	ENST00000278979	ensembl	human	known	70_37	missense	SNP	0.000	A
DUSP5	1847	genome.wustl.edu	37	10	112262487	112262487	+	Missense_Mutation	SNP	G	G	A	rs370573010		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:112262487G>A	ENST00000369583.3	+	2	672	c.388G>A	c.(388-390)Gag>Aag	p.E130K		NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	130	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		AGGGGGATATGAGACTTTCTA	0.408																																																	0													97.0	97.0	97.0					10																	112262487		2203	4300	6503	SO:0001583	missense	1847			U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.388G>A	10.37:g.112262487G>A	ENSP00000358596:p.Glu130Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q12997|Q5T603	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.E130K	ENST00000369583.3	37	c.388	CCDS7566.1	10	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909232	0.92107	.	.	ENSG00000138166	ENST00000369583	T	0.25414	1.8	6.02	6.02	0.97574	Rhodanese-like (5);	0.137842	0.64402	D	0.000004	T	0.48447	0.1500	M	0.71206	2.165	0.80722	D	1	D	0.61080	0.989	P	0.57620	0.824	T	0.38628	-0.9652	10	0.59425	D	0.04	.	19.5352	0.95251	0.0:0.0:1.0:0.0	.	130	Q16690	DUS5_HUMAN	K	130	ENSP00000358596:E130K	ENSP00000358596:E130K	E	+	1	0	DUSP5	112252477	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.336000	0.79245	2.850000	0.98022	0.650000	0.86243	GAG	DUSP5	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom		0.408	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP5	HGNC	protein_coding	OTTHUMT00000050333.1	G	NM_004419		112262487	+1	no_errors	ENST00000369583	ensembl	human	known	70_37	missense	SNP	1.000	A
EIF5B	9669	genome.wustl.edu	37	2	99992929	99992929	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:99992929G>A	ENST00000289371.6	+	10	1874	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	558	Asp/Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						gggagaaAGTGAAGGCAGTGA	0.418																																					Colon(162;2388 2567 2705 3444)												0													69.0	71.0	70.0					2																	99992929		2114	4223	6337	SO:0001583	missense	9669			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1672G>A	2.37:g.99992929G>A	ENSP00000289371:p.Glu558Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.E558K	ENST00000289371.6	37	c.1672	CCDS42721.1	2	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838268	0.51057	.	.	ENSG00000158417	ENST00000289371	T	0.46819	0.86	6.17	6.17	0.99709	.	.	.	.	.	T	0.37571	0.1008	L	0.33485	1.01	0.80722	D	1	P	0.36282	0.546	B	0.26770	0.073	T	0.10382	-1.0632	8	.	.	.	-20.0845	20.8794	0.99867	0.0:0.0:1.0:0.0	.	558	O60841	IF2P_HUMAN	K	558	ENSP00000289371:E558K	.	E	+	1	0	EIF5B	99359361	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.911000	0.87458	2.941000	0.99782	0.655000	0.94253	GAA	EIF5B	-	NULL		0.418	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	G	NM_015904		99992929	+1	no_errors	ENST00000289371	ensembl	human	known	70_37	missense	SNP	1.000	A
EML3	256364	genome.wustl.edu	37	11	62370341	62370341	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:62370341C>T	ENST00000394773.2	-	21	2684	c.2377G>A	c.(2377-2379)Gat>Aat	p.D793N	EML3_ENST00000531557.1_Missense_Mutation_p.D576N|EML3_ENST00000529309.1_Intron|EML3_ENST00000278845.4_Missense_Mutation_p.D794N|MTA2_ENST00000527204.1_5'Flank|MTA2_ENST00000278823.2_5'Flank|EML3_ENST00000494176.2_Intron	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	793						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCGGTCCCATCGGAGCCGTCC	0.677																																																	0													12.0	15.0	14.0					11																	62370341		2192	4288	6480	SO:0001583	missense	256364			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.2377G>A	11.37:g.62370341C>T	ENSP00000378254:p.Asp793Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQW7|Q8NA55	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D793N	ENST00000394773.2	37	c.2377	CCDS8023.2	11	.	.	.	.	.	.	.	.	.	.	C	34	5.395525	0.96009	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557	T;T;T	0.36699	1.57;1.31;1.24	5.02	5.02	0.67125	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	2.046330	0.03895	N	0.279313	T	0.65637	0.2710	M	0.71920	2.185	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;P	0.73708	0.981;0.922;0.894	T	0.45205	-0.9277	10	0.87932	D	0	.	15.8426	0.78861	0.0:1.0:0.0:0.0	.	793;576;794	Q32P44;G3V195;B7WPE2	EMAL3_HUMAN;.;.	N	793;794;576	ENSP00000378254:D793N;ENSP00000278845:D794N;ENSP00000433417:D576N	ENSP00000278845:D794N	D	-	1	0	EML3	62126917	1.000000	0.71417	0.863000	0.33907	0.919000	0.55068	7.513000	0.81739	2.341000	0.79615	0.561000	0.74099	GAT	EML3	-	superfamily_Quinonprotein_ADH-like		0.677	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	EML3	HGNC	protein_coding	OTTHUMT00000313432.1	C	NM_153265		62370341	-1	no_errors	ENST00000394773	ensembl	human	known	70_37	missense	SNP	0.999	T
ENPP4	22875	genome.wustl.edu	37	6	46107443	46107443	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr6:46107443G>A	ENST00000321037.4	+	2	353	c.123G>A	c.(121-123)ctG>ctA	p.L41L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	41					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTGATTATCTGAAGAACTATG	0.343																																																	0													71.0	74.0	73.0					6																	46107443		2202	4297	6499	SO:0001819	synonymous_variant	22875			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.123G>A	6.37:g.46107443G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5G1|Q7L2N1	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.L41	ENST00000321037.4	37	c.123	CCDS34468.1	6																																																																																			ENPP4	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.343	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP4	HGNC	protein_coding	OTTHUMT00000040777.2	G			46107443	+1	no_errors	ENST00000321037	ensembl	human	known	70_37	silent	SNP	0.007	A
KCNMA1	3778	genome.wustl.edu	37	10	78649349	78649349	+	Intron	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:78649349G>C	ENST00000286628.8	-	27	3342				KCNMA1_ENST00000404771.3_Intron|KCNMA1_ENST00000406533.3_Intron|RP11-443A13.5_ENST00000595702.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Intron|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404857.1_Intron|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000286627.5_Intron|KCNMA1_ENST00000372440.1_Intron|KCNMA1_ENST00000372443.1_Intron	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1						blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CAAAAGAACAGAGAGAAACAT	0.423																																																	0													74.0	76.0	75.0					10																	78649349		2203	4300	6503	SO:0001627	intron_variant	0			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3343-22C>G	10.37:g.78649349G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	RNA	SNP	-	NULL	ENST00000286628.8	37	NULL		10																																																																																			RP11-443A13.5	-	-		0.423	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	ENSG00000236467	Clone_based_vega_gene	protein_coding	OTTHUMT00000048885.3	G	NM_002247		78649349	+1	no_errors	ENST00000595702	ensembl	human	known	70_37	rna	SNP	0.911	C
KCNMA1	3778	genome.wustl.edu	37	10	78649362	78649362	+	Intron	SNP	T	T	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:78649362T>C	ENST00000286628.8	-	27	3342				KCNMA1_ENST00000404771.3_Intron|KCNMA1_ENST00000406533.3_Intron|RP11-443A13.5_ENST00000595702.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Intron|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404857.1_Intron|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000286627.5_Intron|KCNMA1_ENST00000372440.1_Intron|KCNMA1_ENST00000372443.1_Intron	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1						blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	AGAAACATCCTTTTTATTTGC	0.433																																																	0													64.0	66.0	65.0					10																	78649362		2203	4300	6503	SO:0001627	intron_variant	0			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3343-35A>G	10.37:g.78649362T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	RNA	SNP	-	NULL	ENST00000286628.8	37	NULL		10																																																																																			RP11-443A13.5	-	-		0.433	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	ENSG00000236467	Clone_based_vega_gene	protein_coding	OTTHUMT00000048885.3	T	NM_002247		78649362	+1	no_errors	ENST00000595702	ensembl	human	known	70_37	rna	SNP	0.276	C
ASAH1	427	genome.wustl.edu	37	8	17944402	17944402	+	5'Flank	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr8:17944402G>A	ENST00000262097.6	-	0	0				ASAH1_ENST00000314146.10_5'Flank|CTD-2547L16.1_ENST00000517747.1_RNA|CTD-2547L16.1_ENST00000517798.1_RNA|ASAH1_ENST00000417108.2_5'Flank|ASAH1_ENST00000381733.4_5'Flank|CTD-2547L16.1_ENST00000521775.1_RNA|ASAH1_ENST00000520051.1_5'Flank|ASAH1_ENST00000520781.1_5'Flank|CTD-2547L16.1_ENST00000505114.2_RNA|CTD-2547L16.1_ENST00000499554.2_RNA	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1						cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		GTCTTTGTGGGAAGAAACAAA	0.299																																																	0																																										SO:0001631	upstream_gene_variant	0			U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"""N-acylsphingosine amidohydrolase (acid ceramidase)"""	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997		8.37:g.17944402G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PDS0|Q6W898|Q96AS2	RNA	SNP	-	NULL	ENST00000262097.6	37	NULL	CCDS6006.1	8																																																																																			CTD-2547L16.1	-	-		0.299	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000245281	Clone_based_vega_gene	protein_coding	OTTHUMT00000214077.2	G	NM_004315		17944402	+1	no_errors	ENST00000499554	ensembl	human	known	70_37	rna	SNP	0.834	A
AGAP2-AS1	100130776	genome.wustl.edu	37	12	58121432	58121432	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:58121432C>T	ENST00000542466.2	+	2	793	c.657C>T	c.(655-657)ctC>ctT	p.L219L	AGAP2_ENST00000257897.3_Intron|AGAP2_ENST00000547588.1_Intron|RP11-571M6.8_ENST00000548410.2_RNA					AGAP2 antisense RNA 1																		TCACTACACTCCCTAGCCCCT	0.682																																																	0													38.0	40.0	39.0					12																	58121432		2196	4299	6495	SO:0001819	synonymous_variant	0			BC039697, BC069024		12q14.1	2013-05-30			ENSG00000255737	ENSG00000255737		"""Long non-coding RNAs"""	48633	non-coding RNA	RNA, long non-coding							Standard	NR_027032		Approved				OTTHUMG00000170286	ENST00000542466.2:c.657C>T	12.37:g.58121432C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L219	ENST00000542466.2	37	c.657		12																																																																																			RP11-571M6.6	-	NULL		0.682	AGAP2-AS1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ENSG00000255737	Clone_based_vega_gene	protein_coding	OTTHUMT00000408368.1	C			58121432	+1	no_errors	ENST00000542466	ensembl	human	putative	70_37	silent	SNP	0.000	T
USP8	9101	genome.wustl.edu	37	15	50789248	50789248	+	Intron	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:50789248G>A	ENST00000396444.3	+	18	3233				USP8_ENST00000433963.1_Intron|USP8_ENST00000425032.3_Intron|RP11-562A8.4_ENST00000560380.1_RNA|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000307179.4_Intron	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8						cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTGAAGAATCGAATTAACGAG	0.378																																																	0													79.0	82.0	81.0					15																	50789248		2196	4294	6490	SO:0001627	intron_variant	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2896-38G>A	15.37:g.50789248G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	RNA	SNP	-	NULL	ENST00000396444.3	37	NULL	CCDS10137.1	15																																																																																			RP11-562A8.5	-	-		0.378	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000259618	Clone_based_vega_gene	protein_coding	OTTHUMT00000254541.1	G	NM_005154		50789248	-1	no_errors	ENST00000560159	ensembl	human	known	70_37	rna	SNP	0.000	A
EPB41L1	2036	genome.wustl.edu	37	20	34797677	34797677	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:34797677G>A	ENST00000338074.2	+	15	2097	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N	EPB41L1_ENST00000202028.5_Missense_Mutation_p.D572N|EPB41L1_ENST00000373941.1_Missense_Mutation_p.D646N|EPB41L1_ENST00000441639.1_Missense_Mutation_p.D572N|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Missense_Mutation_p.D537N	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	646					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCTCGACCGGGACAAAAGCGA	0.617																																																	0													54.0	50.0	52.0					20																	34797677		2203	4300	6503	SO:0001583	missense	2036			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1936G>A	20.37:g.34797677G>A	ENSP00000337168:p.Asp646Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.D646N	ENST00000338074.2	37	c.1936	CCDS13271.1	20	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576836	0.65878	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000344237;ENST00000338074;ENST00000373941	D;D;D;D;D	0.84298	-1.83;-1.74;-1.83;-1.8;-1.8	5.87	4.87	0.63330	.	0.062472	0.64402	D	0.000003	D	0.86948	0.6056	L	0.29908	0.895	0.41654	D	0.989146	P;D;P;B;B;P	0.89917	0.651;1.0;0.501;0.403;0.421;0.557	B;D;B;B;B;B	0.69654	0.104;0.965;0.081;0.12;0.115;0.23	D	0.85848	0.1402	10	0.40728	T	0.16	-12.185	15.2685	0.73681	0.0:0.0:0.8595:0.1405	.	646;935;646;537;537;572	B7Z653;E9PCJ3;Q9H4G0;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;.;E41L1_HUMAN;.;.;.	N	572;537;646;537;572;935;646;646	ENSP00000202028:D572N;ENSP00000363061:D537N;ENSP00000399214:D572N;ENSP00000337168:D646N;ENSP00000363052:D646N	ENSP00000202028:D572N	D	+	1	0	EPB41L1	34261091	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	4.786000	0.62425	2.941000	0.99782	0.655000	0.94253	GAC	EPB41L1	-	pirsf_Band_41_protein		0.617	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	HGNC	protein_coding	OTTHUMT00000078978.3	G	NM_012156		34797677	+1	no_errors	ENST00000338074	ensembl	human	known	70_37	missense	SNP	1.000	A
EPHA5	2044	genome.wustl.edu	37	4	66231719	66231719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:66231719G>A	ENST00000273854.3	-	11	2581	c.1981C>T	c.(1981-1983)Caa>Taa	p.Q661*	EPHA5_ENST00000432638.2_Nonsense_Mutation_p.Q498*|EPHA5_ENST00000511294.1_Nonsense_Mutation_p.Q662*|EPHA5_ENST00000354839.4_Nonsense_Mutation_p.Q639*	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	661					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGGACAGCTTGATTGGGATCC	0.368										TSP Lung(17;0.13)																																							0													220.0	177.0	192.0					4																	66231719		2203	4300	6503	SO:0001587	stop_gained	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1981C>T	4.37:g.66231719G>A	ENSP00000273854:p.Gln661*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z3F2	Nonsense_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.Q661*	ENST00000273854.3	37	c.1981	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	G	45	11.701243	0.99592	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	.	.	.	5.69	5.69	0.88448	.	0.000000	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.8167	0.96571	0.0:0.0:1.0:0.0	.	.	.	.	X	661;498;639;662	.	ENSP00000273854:Q661X	Q	-	1	0	EPHA5	65914314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.628000	0.74262	2.685000	0.91497	0.557000	0.71058	CAA	EPHA5	-	superfamily_Kinase-like_dom,pirsf_Tyr_kinase_ephrin_rcpt		0.368	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	G	NM_004439		66231719	-1	no_errors	ENST00000273854	ensembl	human	known	70_37	nonsense	SNP	1.000	A
EXOSC1	51013	genome.wustl.edu	37	10	99203046	99203046	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:99203046C>G	ENST00000370902.3	-	3	201	c.170G>C	c.(169-171)aGa>aCa	p.R57T	ZDHHC16_ENST00000370846.4_5'Flank|EXOSC1_ENST00000370886.5_Missense_Mutation_p.R57T|EXOSC1_ENST00000485122.2_Missense_Mutation_p.R57T|ZDHHC16_ENST00000345745.5_5'Flank|ZDHHC16_ENST00000370842.2_5'Flank|ZDHHC16_ENST00000370854.3_5'Flank|ZDHHC16_ENST00000352634.4_5'Flank|EXOSC1_ENST00000370885.4_Intron|EXOSC1_ENST00000471049.1_5'UTR|ZDHHC16_ENST00000393760.1_5'Flank|ZDHHC16_ENST00000353979.3_5'Flank	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	57					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		CTCTGTTTCTCTCACTACAGA	0.443																																																	0													238.0	219.0	226.0					10																	99203046		2203	4300	6503	SO:0001583	missense	51013			AF151866	CCDS7459.1	10q24	2004-03-26			ENSG00000171311	ENSG00000171311			17286	protein-coding gene	gene with protein product	"""CSL4 exosomal core protein homolog (yeast)"""	606493				11812149, 11719186	Standard	XR_246092		Approved	hCsl4p, Csl4p, CSL4, Ski4p, SKI4, CGI-108, p13	uc001kni.3	Q9Y3B2	OTTHUMG00000018854	ENST00000370902.3:c.170G>C	10.37:g.99203046C>G	ENSP00000359939:p.Arg57Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9B3|Q5JTH3	Missense_Mutation	SNP	pfam_EXOSC1,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1	p.R57T	ENST00000370902.3	37	c.170	CCDS7459.1	10	.	.	.	.	.	.	.	.	.	.	C	17.30	3.353757	0.61293	.	.	ENSG00000171311	ENST00000370902;ENST00000370886;ENST00000370884	.	.	.	5.63	5.63	0.86233	.	0.047188	0.85682	D	0.000000	T	0.52256	0.1723	M	0.69823	2.125	0.80722	D	1	P	0.47034	0.889	B	0.30782	0.12	T	0.57370	-0.7823	9	0.20046	T	0.44	-15.651	19.2772	0.94036	0.0:1.0:0.0:0.0	.	57	Q9Y3B2	EXOS1_HUMAN	T	57	.	ENSP00000359921:R57T	R	-	2	0	EXOSC1	99193036	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.960000	0.63673	2.639000	0.89480	0.655000	0.94253	AGA	EXOSC1	-	superfamily_NA-bd_OB-fold-like		0.443	EXOSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC1	HGNC	protein_coding	OTTHUMT00000049680.1	C			99203046	-1	no_errors	ENST00000370902	ensembl	human	known	70_37	missense	SNP	1.000	G
EXPH5	23086	genome.wustl.edu	37	11	108380360	108380360	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:108380360G>A	ENST00000265843.4	-	6	5984	c.5874C>T	c.(5872-5874)atC>atT	p.I1958I	EXPH5_ENST00000428840.1_Silent_p.I1882I|EXPH5_ENST00000525344.1_Silent_p.I1951I|EXPH5_ENST00000443411.1_Silent_p.I1770I	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1958					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATCCTCATAGATATTAAGCG	0.448																																																	0													145.0	145.0	145.0					11																	108380360		2201	4298	6499	SO:0001819	synonymous_variant	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5874C>T	11.37:g.108380360G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2KHM1|Q9Y4D6	Silent	SNP	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.I1958	ENST00000265843.4	37	c.5874	CCDS8341.1	11																																																																																			EXPH5	-	NULL		0.448	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	G	NM_015065		108380360	-1	no_errors	ENST00000265843	ensembl	human	known	70_37	silent	SNP	1.000	A
F3	2152	genome.wustl.edu	37	1	94996028	94996028	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:94996028C>T	ENST00000334047.7	-	6	1039	c.876G>A	c.(874-876)ctG>ctA	p.L292L	F3_ENST00000370207.4_Silent_p.*239*|F3_ENST00000480356.1_5'Flank	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	292					activation of blood coagulation via clotting cascade (GO:0002543)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of plasma proteins involved in acute inflammatory response (GO:0002541)|blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|protease binding (GO:0002020)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	ATGAAACATTCAGTGGGGAGT	0.438																																					Melanoma(40;358 1339 15970 39161)												0													124.0	114.0	117.0					1																	94996028		2203	4300	6503	SO:0001819	synonymous_variant	2152			BC011029	CCDS750.1, CCDS53345.1	1p22-p21	2012-10-02			ENSG00000117525	ENSG00000117525		"""CD molecules"""	3541	protein-coding gene	gene with protein product		134390					Standard	NM_001993		Approved	CD142	uc001dqr.3	P13726	OTTHUMG00000010716	ENST00000334047.7:c.876G>A	1.37:g.94996028C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT47|Q6FHG2|Q86WH4	Silent	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3,prints_Tissue_factor	p.L292	ENST00000334047.7	37	c.876	CCDS750.1	1																																																																																			F3	-	pirsf_Tissue_fac/coagulation_fac-3		0.438	F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F3	HGNC	protein_coding	OTTHUMT00000029593.1	C	NM_001993		94996028	-1	no_errors	ENST00000334047	ensembl	human	known	70_37	silent	SNP	0.017	T
TVP23C	201158	genome.wustl.edu	37	17	15406542	15406543	+	Frame_Shift_Ins	INS	-	-	CT	rs533900031|rs113252895	byFrequency	TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:15406542_15406543insCT	ENST00000225576.3	-	6	561_562	c.466_467insAG	c.(466-468)cggfs	p.R156fs	TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Frame_Shift_Ins_p.R113fs	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	156						integral component of membrane (GO:0016021)											gtggcgagaccgtctctacaaa	0.54														127	0.0253594	0.0885	0.0144	5008	,	,		16170	0.0		0.0	False		,,,				2504	0.0																0									,	281,3681		29,223,1729					,	0.4	0.0		dbSNP_132	6	16,7788		1,14,3887	no	frameshift,intron	FAM18B2,FAM18B2-CDRT4	NM_145301.2,NM_001204478.1	,	30,237,5616	A1A1,A1R,RR		0.205,7.0924,2.5242	,	,		297,11469				SO:0001589	frameshift_variant	201158			BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.466_467insAG	17.37:g.15406542_15406543insCT	ENSP00000225576:p.Arg156fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3LIC7	Frame_Shift_Ins	INS	pfam_DUF846_euk	p.R156fs	ENST00000225576.3	37	c.467_466	CCDS11170.1	17																																																																																			FAM18B2	-	NULL		0.540	TVP23C-001	KNOWN	basic|CCDS	protein_coding	FAM18B2	HGNC	protein_coding	OTTHUMT00000130705.2	-	NM_145301		15406543	-1	no_errors	ENST00000225576	ensembl	human	known	70_37	frame_shift_ins	INS	0.001:0.000	CT
FAM217B	63939	genome.wustl.edu	37	20	58519380	58519380	+	Missense_Mutation	SNP	G	G	A	rs548552912		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:58519380G>A	ENST00000358293.3	+	5	797	c.382G>A	c.(382-384)Gat>Aat	p.D128N	FAM217B_ENST00000469084.1_Intron|FAM217B_ENST00000360816.3_Missense_Mutation_p.D128N	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	128																	AGTTTACTTTGATCTTCACCC	0.458																																																	0													83.0	83.0	83.0					20																	58519380		2203	4300	6503	SO:0001583	missense	63939			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.382G>A	20.37:g.58519380G>A	ENSP00000351040:p.Asp128Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWH1|Q9NTA3	Missense_Mutation	SNP	NULL	p.D128N	ENST00000358293.3	37	c.382	CCDS13484.1	20	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569638	0.65765	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.25579	1.79;1.79	5.66	3.7	0.42460	.	0.477257	0.20146	N	0.098267	T	0.21590	0.0520	L	0.34521	1.04	0.09310	N	1	D	0.53462	0.96	P	0.46110	0.504	T	0.05419	-1.0886	10	0.35671	T	0.21	-3.5062	8.807	0.34943	0.0824:0.1698:0.7479:0.0	.	128	Q9NTX9	CT177_HUMAN	N	128	ENSP00000351040:D128N;ENSP00000354056:D128N	ENSP00000351040:D128N	D	+	1	0	C20orf177	57952775	0.121000	0.22262	0.001000	0.08648	0.690000	0.40134	2.947000	0.49058	0.706000	0.31912	0.655000	0.94253	GAT	FAM217B	-	NULL		0.458	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM217B	HGNC	protein_coding	OTTHUMT00000268139.1	G	NM_022106		58519380	+1	no_errors	ENST00000358293	ensembl	human	known	70_37	missense	SNP	0.033	A
FAM47A	158724	genome.wustl.edu	37	X	34149541	34149541	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:34149541C>T	ENST00000346193.3	-	1	906	c.855G>A	c.(853-855)aaG>aaA	p.K285K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	285										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CGTCAGTTGTCTTCTCCCGGC	0.572																																																	0													25.0	27.0	26.0					X																	34149541		2201	4299	6500	SO:0001819	synonymous_variant	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.855G>A	X.37:g.34149541C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8I9|Q8TAA0	Silent	SNP	NULL	p.K285	ENST00000346193.3	37	c.855	CCDS43926.1	X																																																																																			FAM47A	-	NULL		0.572	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	C	NM_203408		34149541	-1	no_errors	ENST00000346193	ensembl	human	known	70_37	silent	SNP	0.021	T
FAT3	120114	genome.wustl.edu	37	11	92534124	92534124	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:92534124G>A	ENST00000298047.6	+	9	7962	c.7945G>A	c.(7945-7947)Gac>Aac	p.D2649N	FAT3_ENST00000525166.1_Missense_Mutation_p.D2499N|FAT3_ENST00000409404.2_Missense_Mutation_p.D2649N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2649	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCAGTGGCCGACCTCCTGGA	0.458										TCGA Ovarian(4;0.039)																																							0													35.0	34.0	35.0					11																	92534124		1883	4102	5985	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7945G>A	11.37:g.92534124G>A	ENSP00000298047:p.Asp2649Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D2649N	ENST00000298047.6	37	c.7945		11	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933896	0.92458	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.50548	0.74;0.74;0.74	6.17	6.17	0.99709	.	.	.	.	.	T	0.57770	0.2076	L	0.31526	0.94	0.80722	D	1	D	0.89917	1.0	D	0.66497	0.944	T	0.44682	-0.9312	9	0.24483	T	0.36	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2649	Q8TDW7-3	.	N	2649;2649;2499	ENSP00000298047:D2649N;ENSP00000387040:D2649N;ENSP00000432586:D2499N	ENSP00000298047:D2649N	D	+	1	0	FAT3	92173772	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.939000	0.87685	2.941000	0.99782	0.655000	0.94253	GAC	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.458	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		G	NM_001008781		92534124	+1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	1.000	A
FBXO33	254170	genome.wustl.edu	37	14	39868938	39868938	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:39868938C>T	ENST00000298097.7	-	4	1787	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	FBXO33_ENST00000554190.1_Silent_p.*90*	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	484					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		ACTTTCAGATCAGAGCCCCGA	0.448																																																	0													81.0	69.0	73.0					14																	39868938		2203	4300	6503	SO:0001583	missense	254170			BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"""F-boxes /  ""other"""""	19833	protein-coding gene	gene with protein product		609103	"""F-box only protein 33"""				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.1450G>A	14.37:g.39868938C>T	ENSP00000298097:p.Asp484Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PIR2|Q86TR2|Q86YE0	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.D484N	ENST00000298097.7	37	c.1450	CCDS9677.1	14	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827670	0.50845	.	.	ENSG00000165355	ENST00000298097	T	0.29142	1.58	5.97	4.16	0.48862	.	0.181440	0.64402	N	0.000014	T	0.13286	0.0322	N	0.03324	-0.35	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.09271	-1.0682	9	.	.	.	-4.5676	12.2308	0.54486	0.0:0.8638:0.0:0.1362	.	484	Q7Z6M2	FBX33_HUMAN	N	484	ENSP00000298097:D484N	.	D	-	1	0	FBXO33	38938689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.271000	0.51608	1.537000	0.49254	0.655000	0.94253	GAT	FBXO33	-	NULL		0.448	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO33	HGNC	protein_coding	OTTHUMT00000276769.2	C			39868938	-1	no_errors	ENST00000298097	ensembl	human	known	70_37	missense	SNP	1.000	T
FETUB	26998	genome.wustl.edu	37	3	186364083	186364083	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:186364083C>T	ENST00000265029.3	+	5	742	c.641C>T	c.(640-642)tCa>tTa	p.S214L	FETUB_ENST00000382134.3_Missense_Mutation_p.S149L|FETUB_ENST00000382136.3_Missense_Mutation_p.S177L|FETUB_ENST00000450521.1_Missense_Mutation_p.S214L|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000539949.1_Missense_Mutation_p.S66L|RP11-134F2.2_ENST00000428501.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	214	Cystatin fetuin-B-type 2. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		ATTAAAGAATCACCATGTACT	0.413																																																	0													155.0	161.0	159.0					3																	186364083		2203	4300	6503	SO:0001583	missense	26998			AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.641C>T	3.37:g.186364083C>T	ENSP00000265029:p.Ser214Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.S214L	ENST00000265029.3	37	c.641	CCDS3279.1	3	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694869	0.68386	.	.	ENSG00000090512	ENST00000450521;ENST00000431018;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38	4.91	4.91	0.64330	Proteinase inhibitor I25, cystatin (2);	0.485092	0.17673	N	0.165897	T	0.40791	0.1131	M	0.75447	2.3	0.37776	D	0.926852	D;D;D	0.71674	0.998;0.993;0.998	D;D;D	0.66979	0.948;0.948;0.946	T	0.38373	-0.9664	10	0.72032	D	0.01	-12.9054	13.7915	0.63143	0.0:1.0:0.0:0.0	.	177;149;214	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	L	214;66;66;214;149;177	ENSP00000404288:S214L;ENSP00000396581:S66L;ENSP00000443704:S66L;ENSP00000265029:S214L;ENSP00000371569:S149L;ENSP00000371571:S177L	ENSP00000265029:S214L	S	+	2	0	FETUB	187846777	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	1.487000	0.35540	2.725000	0.93324	0.655000	0.94253	TCA	FETUB	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.413	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FETUB	HGNC	protein_coding	OTTHUMT00000344679.1	C	NM_014375		186364083	+1	no_errors	ENST00000265029	ensembl	human	known	70_37	missense	SNP	1.000	T
FLT1	2321	genome.wustl.edu	37	13	29012465	29012465	+	Missense_Mutation	SNP	C	C	T	rs373801409		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:29012465C>T	ENST00000282397.4	-	4	657	c.406G>A	c.(406-408)Gta>Ata	p.V136I	FLT1_ENST00000541932.1_Missense_Mutation_p.V136I|FLT1_ENST00000539099.1_Missense_Mutation_p.V136I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	136					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TACATCTCTACGAAAGGTCTA	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		19815	0.0		0.0	False		,,,				2504	0.001																0								C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	100.0	85.0	90.0		406,406,406,406	-1.8	0.6	13		90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	FLT1	NM_001159920.1,NM_001160030.1,NM_001160031.1,NM_002019.4	29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	136/688,136/734,136/542,136/1339	29012465	1,13005	2203	4300	6503	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.406G>A	13.37:g.29012465C>T	ENSP00000282397:p.Val136Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.V136I	ENST00000282397.4	37	c.406	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	C	6.786	0.513968	0.12944	0.0	1.16E-4	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000450836;ENST00000539099	T;T;T	0.22945	1.93;1.93;1.93	6.03	-1.83	0.07833	Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 1 (VEGFR1), N-terminal (1);Immunoglobulin-like fold (1);	0.337959	0.30695	N	0.009079	T	0.10294	0.0252	N	0.25789	0.76	0.38215	D	0.940576	B;B;B;B	0.17667	0.005;0.005;0.005;0.023	B;B;B;B	0.17433	0.018;0.018;0.018;0.006	T	0.40021	-0.9585	10	0.02654	T	1	.	3.595	0.08002	0.1252:0.5201:0.0898:0.2648	.	136;136;136;136	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	I	136	ENSP00000282397:V136I;ENSP00000437631:V136I;ENSP00000442630:V136I	ENSP00000282397:V136I	V	-	1	0	FLT1	27910465	0.950000	0.32346	0.605000	0.28930	0.993000	0.82548	0.085000	0.14912	-0.458000	0.07023	0.655000	0.94253	GTA	FLT1	-	prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N		0.398	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	C			29012465	-1	no_errors	ENST00000282397	ensembl	human	known	70_37	missense	SNP	0.994	T
FNDC1	84624	genome.wustl.edu	37	6	159682278	159682278	+	Missense_Mutation	SNP	C	C	T	rs369189702		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr6:159682278C>T	ENST00000297267.9	+	19	5431	c.5231C>T	c.(5230-5232)tCg>tTg	p.S1744L	FNDC1_ENST00000340366.6_Missense_Mutation_p.S1681L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1744	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ATCAGCCCTTCGGTCTCATTT	0.348																																																	0								C	LEU/SER	0,3690		0,0,1845	112.0	106.0	108.0		5231	5.8	0.1	6		108	2,8168		0,2,4083	no	missense	FNDC1	NM_032532.2	145	0,2,5928	TT,TC,CC		0.0245,0.0,0.0169	probably-damaging	1744/1895	159682278	2,11858	1845	4085	5930	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5231C>T	6.37:g.159682278C>T	ENSP00000297267:p.Ser1744Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S1744L	ENST00000297267.9	37	c.5231	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484960	0.63962	0.0	2.45E-4	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.08458	3.09;3.98	5.81	5.81	0.92471	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.070538	0.64402	D	0.000018	T	0.11367	0.0277	L	0.41710	1.295	0.30482	N	0.772236	D	0.89917	1.0	D	0.69654	0.965	T	0.02813	-1.1107	9	.	.	.	-16.8578	14.8622	0.70389	0.1436:0.8564:0.0:0.0	.	1744	Q4ZHG4	FNDC1_HUMAN	L	1744;1681	ENSP00000297267:S1744L;ENSP00000342460:S1681L	.	S	+	2	0	FNDC1	159602268	0.999000	0.42202	0.118000	0.21660	0.261000	0.26267	4.370000	0.59517	2.750000	0.94351	0.655000	0.94253	TCG	FNDC1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.348	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	C	NM_032532		159682278	+1	no_errors	ENST00000297267	ensembl	human	known	70_37	missense	SNP	0.031	T
G6PC2	57818	genome.wustl.edu	37	2	169764723	169764723	+	IGR	SNP	G	G	C	rs2632369		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:169764723G>C	ENST00000375363.3	+	0	1214				G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2						carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						attccccatagagatgtttag	0.428																																																	0																																										SO:0001628	intergenic_variant	57818			AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182		2.37:g.169764723G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PAX2|Q6AHZ0	RNA	SNP	-	NULL	ENST00000375363.3	37	NULL	CCDS2230.1	2																																																																																			G6PC2	-	-		0.428	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G6PC2	HGNC	protein_coding	OTTHUMT00000255234.2	G	NM_021176		169764723	+1	no_errors	ENST00000461586	ensembl	human	known	70_37	rna	SNP	0.000	C
GALNT18	374378	genome.wustl.edu	37	11	11398878	11398878	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:11398878G>A	ENST00000227756.4	-	5	1239	c.828C>T	c.(826-828)atC>atT	p.I276I		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	276					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGGATGGCGAGATGATCCGCT	0.522																																																	0													79.0	70.0	73.0					11																	11398878		2201	4294	6495	SO:0001819	synonymous_variant	374378			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.828C>T	11.37:g.11398878G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95903|Q8NDY9	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.I276	ENST00000227756.4	37	c.828	CCDS7807.1	11																																																																																			GALNTL4	-	pfam_Glyco_trans_2		0.522	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL4	HGNC	protein_coding	OTTHUMT00000385848.1	G	NM_198516		11398878	-1	no_errors	ENST00000227756	ensembl	human	known	70_37	silent	SNP	0.998	A
GBF1	8729	genome.wustl.edu	37	10	104139119	104139119	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:104139119G>C	ENST00000369983.3	+	34	4830	c.4570G>C	c.(4570-4572)Gag>Cag	p.E1524Q		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1524					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACGCCACCTGGAGACAGGTGG	0.607																																																	0													59.0	56.0	57.0					10																	104139119		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4570G>C	10.37:g.104139119G>C	ENSP00000359000:p.Glu1524Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.E1524Q	ENST00000369983.3	37	c.4570	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142983	0.37825	.	.	ENSG00000107862	ENST00000369983	T	0.11063	2.81	5.03	3.15	0.36227	.	0.145654	0.64402	N	0.000009	T	0.14614	0.0353	M	0.66439	2.03	0.48511	D	0.999665	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.003	T	0.03773	-1.1005	10	0.35671	T	0.21	-4.5422	15.4209	0.75009	0.0:0.2634:0.7366:0.0	.	1520;1520;1524	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	Q	1524	ENSP00000359000:E1524Q	ENSP00000359000:E1524Q	E	+	1	0	GBF1	104129109	1.000000	0.71417	0.999000	0.59377	0.420000	0.31355	6.527000	0.73803	0.694000	0.31654	-0.218000	0.12543	GAG	GBF1	-	NULL		0.607	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	G			104139119	+1	no_errors	ENST00000369983	ensembl	human	known	70_37	missense	SNP	1.000	C
GCN1L1	10985	genome.wustl.edu	37	12	120585024	120585024	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:120585024C>G	ENST00000300648.6	-	38	4791	c.4779G>C	c.(4777-4779)caG>caC	p.Q1593H		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1593					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAAGCACTTCTGGGTCTTCC	0.547																																																	0													75.0	81.0	79.0					12																	120585024		1978	4162	6140	SO:0001583	missense	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4779G>C	12.37:g.120585024C>G	ENSP00000300648:p.Gln1593His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.Q1593H	ENST00000300648.6	37	c.4779	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578662	0.46006	.	.	ENSG00000089154	ENST00000300648	T	0.65364	-0.15	5.82	4.02	0.46733	Armadillo-like helical (1);Armadillo-type fold (1);	0.117629	0.64402	D	0.000012	T	0.58323	0.2114	N	0.22421	0.69	0.58432	D	0.999999	D	0.61080	0.989	P	0.55749	0.783	T	0.58736	-0.7584	10	0.52906	T	0.07	-22.446	9.6166	0.39696	0.0:0.728:0.0:0.272	.	1593	Q92616	GCN1L_HUMAN	H	1593	ENSP00000300648:Q1593H	ENSP00000300648:Q1593H	Q	-	3	2	GCN1L1	119069407	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.656000	0.37355	0.821000	0.34540	-0.216000	0.12614	CAG	GCN1L1	-	superfamily_ARM-type_fold		0.547	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	C			120585024	-1	no_errors	ENST00000300648	ensembl	human	known	70_37	missense	SNP	1.000	G
GDAP2	54834	genome.wustl.edu	37	1	118463026	118463026	+	5'UTR	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:118463026C>G	ENST00000369443.5	-	0	204				GDAP2_ENST00000369442.3_5'UTR	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2						response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		CTCAGCAATTCAATATTCACT	0.358																																																	0													29.0	29.0	29.0					1																	118463026		2203	4300	6503	SO:0001623	5_prime_UTR_variant	54834			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.-46G>C	1.37:g.118463026C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96DZ0	RNA	SNP	-	NULL	ENST00000369443.5	37	NULL	CCDS897.1	1																																																																																			GDAP2	-	-		0.358	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP2	HGNC	protein_coding	OTTHUMT00000033732.2	C	NM_017686		118463026	-1	no_errors	ENST00000494224	ensembl	human	known	70_37	rna	SNP	0.992	G
GFPT1	2673	genome.wustl.edu	37	2	69565691	69565691	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:69565691G>C	ENST00000357308.4	-	14	1388	c.1210C>G	c.(1210-1212)Caa>Gaa	p.Q404E	GFPT1_ENST00000361060.5_Missense_Mutation_p.Q386E	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	404	Isomerase.|SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TCAAGAACTTGACGTGTCTGC	0.408																																																	0													104.0	100.0	101.0					2																	69565691		2203	4300	6503	SO:0001583	missense	2673				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1210C>G	2.37:g.69565691G>C	ENSP00000349860:p.Gln404Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QE6|Q9BXF8	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.Q404E	ENST00000357308.4	37	c.1210	CCDS58713.1	2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394281	0.83011	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.63255	-0.03;-0.03	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.73900	0.3646	L	0.46741	1.465	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.74435	-0.3666	10	0.51188	T	0.08	-12.6661	17.3627	0.87355	0.0:0.0:1.0:0.0	.	386	Q06210-2	.	E	404;386	ENSP00000349860:Q404E;ENSP00000354347:Q386E	ENSP00000349860:Q404E	Q	-	1	0	GFPT1	69419195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.568000	0.98166	2.579000	0.87056	0.650000	0.86243	CAA	GFPT1	-	pfam_SIS,tigrfam_GlmS_trans		0.408	GFPT1-201	KNOWN	basic|CCDS	protein_coding	GFPT1	HGNC	protein_coding		G			69565691	-1	no_errors	ENST00000357308	ensembl	human	known	70_37	missense	SNP	1.000	C
GIGYF1	64599	genome.wustl.edu	37	7	100284988	100284988	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr7:100284988C>T	ENST00000275732.5	-	5	1624	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	139					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCGCCTTCTTCGATGCTTCTT	0.637																																																	0													95.0	102.0	99.0					7																	100284988		2203	4300	6503	SO:0001583	missense	64599			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.415G>A	7.37:g.100284988C>T	ENSP00000275732:p.Glu139Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.E139K	ENST00000275732.5	37	c.415	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	35	5.429877	0.96131	.	.	ENSG00000146830	ENST00000275732	D	0.83419	-1.72	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.80523	0.4639	L	0.43152	1.355	0.58432	D	0.999998	D	0.65815	0.995	P	0.49799	0.622	T	0.76454	-0.2953	10	0.11485	T	0.65	-12.5416	15.1728	0.72888	0.0:1.0:0.0:0.0	.	139	O75420	PERQ1_HUMAN	K	139	ENSP00000275732:E139K	ENSP00000275732:E139K	E	-	1	0	GIGYF1	100122924	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.197000	0.77814	2.415000	0.81967	0.563000	0.77884	GAA	GIGYF1	-	NULL		0.637	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	HGNC	protein_coding	OTTHUMT00000347205.2	C	NM_022574		100284988	-1	no_errors	ENST00000275732	ensembl	human	known	70_37	missense	SNP	1.000	T
GK5	256356	genome.wustl.edu	37	3	141917646	141917646	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:141917646C>A	ENST00000392993.2	-	5	692	c.541G>T	c.(541-543)Gag>Tag	p.E181*	GK5_ENST00000544571.1_Nonsense_Mutation_p.E181*	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	181					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TTTCTTACCTCAGTCAAGTTC	0.338																																																	0													101.0	99.0	100.0					3																	141917646		2203	4300	6503	SO:0001587	stop_gained	256356			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.541G>T	3.37:g.141917646C>A	ENSP00000418001:p.Glu181*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Nonsense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C	p.E181*	ENST00000392993.2	37	c.541	CCDS33871.1	3	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339190	0.41398	.	.	ENSG00000175066	ENST00000392993;ENST00000544571	.	.	.	5.33	5.33	0.75918	.	0.052357	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.6508	13.9223	0.63940	0.0:0.8472:0.1527:0.0	.	.	.	.	X	181	.	ENSP00000418001:E181X	E	-	1	0	GK5	143400336	0.987000	0.35691	0.961000	0.40146	0.120000	0.20174	2.906000	0.48735	2.680000	0.91292	0.644000	0.83932	GAG	GK5	-	pfam_Carb_kinase_FGGY_N		0.338	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK5	HGNC	protein_coding	OTTHUMT00000353999.1	C	NM_001039547		141917646	-1	no_errors	ENST00000392993	ensembl	human	known	70_37	nonsense	SNP	0.974	A
GNA11	2767	genome.wustl.edu	37	19	3110178	3110178	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:3110178C>G	ENST00000078429.4	+	2	410	c.168C>G	c.(166-168)atC>atG	p.I56M		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	56					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GCACGTTCATCAAGCAGATGC	0.667			Mis		uveal melanoma																																			Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	0													57.0	40.0	46.0					19																	3110178		2203	4300	6503	SO:0001583	missense	2767			AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.168C>G	19.37:g.3110178C>G	ENSP00000078429:p.Ile56Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O15109|Q14350|Q6IB00	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA	p.I56M	ENST00000078429.4	37	c.168	CCDS12103.1	19	.	.	.	.	.	.	.	.	.	.	.	15.50	2.851375	0.51270	.	.	ENSG00000088256	ENST00000078429	D	0.88818	-2.43	3.92	1.29	0.21616	G protein alpha subunit, helical insertion (1);	0.077975	0.47455	D	0.000224	D	0.92264	0.7546	M	0.79123	2.44	0.49687	D	0.999817	D	0.89917	1.0	D	0.85130	0.997	D	0.90196	0.4253	10	0.87932	D	0	.	6.0288	0.19669	0.0:0.5567:0.0:0.4433	.	56	P29992	GNA11_HUMAN	M	56	ENSP00000078429:I56M	ENSP00000078429:I56M	I	+	3	3	GNA11	3061178	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	2.282000	0.43461	0.630000	0.30394	0.455000	0.32223	ATC	GNA11	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su		0.667	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA11	HGNC	protein_coding	OTTHUMT00000452261.2	C	NM_002067		3110178	+1	no_errors	ENST00000078429	ensembl	human	known	70_37	missense	SNP	1.000	G
GOLGA8S	653061	genome.wustl.edu	37	15	23609673	23609673	+	Splice_Site	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:23609673G>A	ENST00000562295.1	+	17	1449	c.1449G>A	c.(1447-1449)caG>caA	p.Q483Q	RN7SL536P_ENST00000491146.2_RNA|AC100756.1_ENST00000459602.1_RNA					golgin A8 family, member S																		CCTCCCGCAGGAAAATCCATC	0.622																																																	0																																										SO:0001630	splice_region_variant	653061					15q11.2	2013-01-17			ENSG00000261739	ENSG00000261739			44409	other	unknown							Standard	NR_038843		Approved		uc021sfv.2		OTTHUMG00000176415	ENST00000562295.1:c.1449-1G>A	15.37:g.23609673G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.Q483	ENST00000562295.1	37	c.1449		15																																																																																			GOLGA8S	-	NULL		0.622	GOLGA8S-001	NOVEL	basic|appris_principal	protein_coding	GOLGA8S	HGNC	protein_coding	OTTHUMT00000431934.1	G	NR_038843	Silent	23609673	+1	no_errors	ENST00000562295	ensembl	human	novel	70_37	silent	SNP	1.000	A
GPR98	84059	genome.wustl.edu	37	5	89933626	89933626	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:89933626G>A	ENST00000405460.2	+	11	2197	c.2101G>A	c.(2101-2103)Gca>Aca	p.A701T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	701	Calx-beta 5. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAATTCAAAAGCAGTGACCCC	0.413																																																	0													66.0	62.0	63.0					5																	89933626		1823	4081	5904	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2101G>A	5.37:g.89933626G>A	ENSP00000384582:p.Ala701Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.A701T	ENST00000405460.2	37	c.2101	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.08|15.08	2.727115|2.727115	0.48833|0.48833	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.49139|.	0.79|.	5.46|5.46	3.47|3.47	0.39725|0.39725	.|.	0.264915|.	0.41938|.	D|.	0.000782|.	T|T	0.70544|0.70544	0.3236|0.3236	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	B|.	0.25563|.	0.129|.	B|.	0.32533|.	0.147|.	T|T	0.71230|0.71230	-0.4654|-0.4654	10|5	0.45353|.	T|.	0.12|.	.|.	16.2652|16.2652	0.82574|0.82574	0.0:0.0:0.6747:0.3253|0.0:0.0:0.6747:0.3253	.|.	701|.	Q8WXG9|.	GPR98_HUMAN|.	T|N	701|289	ENSP00000384582:A701T|.	ENSP00000296619:A701T|.	A|S	+|+	1|2	0|0	GPR98|GPR98	89969382|89969382	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.709000|0.709000	0.40893|0.40893	3.105000|3.105000	0.50314|0.50314	1.286000|1.286000	0.44565|0.44565	-0.158000|-0.158000	0.13435|0.13435	GCA|AGC	GPR98	-	NULL		0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		89933626	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.923	A
GPR98	84059	genome.wustl.edu	37	5	90449160	90449160	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:90449160G>A	ENST00000405460.2	+	89	18843	c.18747G>A	c.(18745-18747)ctG>ctA	p.L6249L	GPR98_ENST00000425867.2_Silent_p.L1910L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6249					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L6249L(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGGGGTCACTGATAGCCGATG	0.478																																																	1	Substitution - coding silent(1)	urinary_tract(1)											69.0	70.0	70.0					5																	90449160		1892	4106	5998	SO:0001819	synonymous_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.18747G>A	5.37:g.90449160G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.L6249	ENST00000405460.2	37	c.18747	CCDS47246.1	5																																																																																			GPR98	-	NULL		0.478	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90449160	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	silent	SNP	0.992	A
GRIN3B	116444	genome.wustl.edu	37	19	1008173	1008173	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:1008173C>T	ENST00000234389.3	+	6	2368	c.2349C>T	c.(2347-2349)ctC>ctT	p.L783L		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	783					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACTCGCCGCTCACCTCCAACC	0.667																																																	0													54.0	37.0	43.0					19																	1008173		2198	4297	6495	SO:0001819	synonymous_variant	116444				CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2349C>T	19.37:g.1008173C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5EAK7|Q7RTW9	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L783	ENST00000234389.3	37	c.2349	CCDS32861.1	19																																																																																			GRIN3B	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.667	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3B	HGNC	protein_coding	OTTHUMT00000103923.2	C			1008173	+1	no_errors	ENST00000234389	ensembl	human	known	70_37	silent	SNP	0.991	T
HAP1	9001	genome.wustl.edu	37	17	39881183	39881183	+	Missense_Mutation	SNP	C	C	T	rs555784831		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:39881183C>T	ENST00000310778.5	-	12	1795	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_Missense_Mutation_p.E519K|HAP1_ENST00000347901.4_Missense_Mutation_p.E544K|HAP1_ENST00000341193.5_Missense_Mutation_p.E527K			P54257	HAP1_HUMAN	huntingtin-associated protein 1	596	Glu-rich.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AGCTCCAGTTCCACCTCCTCC	0.622																																																	0													298.0	262.0	274.0					17																	39881183		2203	4300	6503	SO:0001583	missense	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1786G>A	17.37:g.39881183C>T	ENSP00000309392:p.Glu596Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	pfam_HAP1_N	p.E596K	ENST00000310778.5	37	c.1786		17	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292746	0.40594	.	.	ENSG00000173805	ENST00000458656;ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T;T	0.43688	0.94;2.54;2.94;2.63;2.57	3.97	3.0	0.34707	.	0.168366	0.28476	N	0.015206	T	0.31389	0.0795	L	0.29908	0.895	0.21675	N	0.999593	P;P;P;B	0.34639	0.461;0.461;0.461;0.331	B;B;B;B	0.36464	0.225;0.225;0.225;0.113	T	0.25984	-1.0116	10	0.87932	D	0	-7.7275	9.6563	0.39928	0.0:0.8955:0.0:0.1045	.	519;527;544;596	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	K	51;519;596;544;527	ENSP00000404640:E51K;ENSP00000377513:E519K;ENSP00000309392:E596K;ENSP00000334002:E544K;ENSP00000343170:E527K	ENSP00000309392:E596K	E	-	1	0	HAP1	37134709	0.050000	0.20438	0.640000	0.29408	0.032000	0.12392	1.677000	0.37576	1.021000	0.39600	-0.350000	0.07774	GAA	HAP1	-	NULL		0.622	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	HGNC	protein_coding	OTTHUMT00000389619.1	C	NM_003949		39881183	-1	no_errors	ENST00000310778	ensembl	human	known	70_37	missense	SNP	0.699	T
HCN1	348980	genome.wustl.edu	37	5	45353336	45353336	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:45353336C>T	ENST00000303230.4	-	5	1300	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	415					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATGTATTGTTCCACTTGCTTA	0.299																																																	0													143.0	132.0	136.0					5																	45353336		2203	4299	6502	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1243G>A	5.37:g.45353336C>T	ENSP00000307342:p.Glu415Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.E415K	ENST00000303230.4	37	c.1243	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110384	0.77210	.	.	ENSG00000164588	ENST00000303230	D	0.96522	-4.04	5.97	5.97	0.96955	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000002	D	0.95046	0.8396	L	0.49699	1.58	0.80722	D	1	B	0.16396	0.017	B	0.11329	0.006	D	0.90829	0.4715	10	0.62326	D	0.03	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	415	O60741	HCN1_HUMAN	K	415	ENSP00000307342:E415K	ENSP00000307342:E415K	E	-	1	0	HCN1	45389093	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.811000	0.86092	2.828000	0.97474	0.655000	0.94253	GAA	HCN1	-	superfamily_cNMP-bd-like		0.299	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	C	NM_021072		45353336	-1	no_errors	ENST00000303230	ensembl	human	known	70_37	missense	SNP	1.000	T
HFM1	164045	genome.wustl.edu	37	1	91742578	91742578	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:91742578G>A	ENST00000370425.3	-	31	3531	c.3433C>T	c.(3433-3435)Cat>Tat	p.H1145Y	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.H377Y|HFM1_ENST00000370424.3_Missense_Mutation_p.H824Y	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1145					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTACAAAGATGATTGCATTCT	0.313																																																	0													140.0	139.0	139.0					1																	91742578		2203	4299	6502	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3433C>T	1.37:g.91742578G>A	ENSP00000359454:p.His1145Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H1145Y	ENST00000370425.3	37	c.3433	CCDS30769.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.72|19.72	3.880124|3.880124	0.72294|0.72294	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424|ENST00000370421	D;D;D|.	0.86230|.	-1.5;-2.09;-1.88|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.69691|0.69691	0.3139|0.3139	M|M	0.68952|0.68952	2.095|2.095	0.42985|0.42985	D|D	0.99447|0.99447	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.91635|.	0.999;0.994;0.997|.	T|T	0.72786|0.72786	-0.4188|-0.4188	10|6	0.87932|0.87932	D|D	0|0	.|.	16.752|16.752	0.85488|0.85488	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	824;356;1145|.	A6NGI5;B1B0B5;A2PYH4|.	.;.;HFM1_HUMAN|.	Y|L	1145;377;824|828	ENSP00000359454:H1145Y;ENSP00000294696:H377Y;ENSP00000359453:H824Y|.	ENSP00000294696:H377Y|ENSP00000359450:S828L	H|S	-|-	1|2	0|0	HFM1|HFM1	91515166|91515166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.838000|0.838000	0.47535|0.47535	4.693000|4.693000	0.61753|0.61753	2.698000|2.698000	0.92095|0.92095	0.585000|0.585000	0.79938|0.79938	CAT|TCA	HFM1	-	NULL		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	G	NM_001017975		91742578	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	missense	SNP	1.000	A
HFM1	164045	genome.wustl.edu	37	1	91778974	91778974	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:91778974C>G	ENST00000370425.3	-	30	3421	c.3323G>C	c.(3322-3324)aGa>aCa	p.R1108T	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.R340T|HFM1_ENST00000370424.3_Missense_Mutation_p.R787T	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1108					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTCAGATTTTCTTTGCATAGT	0.313																																																	0													118.0	117.0	118.0					1																	91778974		2202	4294	6496	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3323G>C	1.37:g.91778974C>G	ENSP00000359454:p.Arg1108Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1108T	ENST00000370425.3	37	c.3323	CCDS30769.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.521|6.521	0.464417|0.464417	0.12402|0.12402	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	.|T;T;T	.|0.63580	.|0.33;0.66;-0.05	5.57|5.57	3.6|3.6	0.41247|0.41247	.|.	.|0.202358	.|0.32608	.|N	.|0.005875	T|T	0.22936|0.22936	0.0554|0.0554	L|L	0.38175|0.38175	1.15|1.15	0.25590|0.25590	N|N	0.98671|0.98671	.|B;B;B	.|0.14438	.|0.008;0.007;0.01	.|B;B;B	.|0.11329	.|0.006;0.004;0.002	T|T	0.19745|0.19745	-1.0296|-1.0296	5|10	.|0.14252	.|T	.|0.57	.|.	6.0466|6.0466	0.19764|0.19764	0.0:0.6026:0.0:0.3974|0.0:0.6026:0.0:0.3974	.|.	.|787;319;1108	.|A6NGI5;B1B0B5;A2PYH4	.|.;.;HFM1_HUMAN	Q|T	320|1108;340;787;792	.|ENSP00000359454:R1108T;ENSP00000294696:R340T;ENSP00000359453:R787T	.|ENSP00000294696:R340T	E|R	-|-	1|2	0|0	HFM1|HFM1	91551562|91551562	0.481000|0.481000	0.25941|0.25941	0.800000|0.800000	0.32199|0.32199	0.026000|0.026000	0.11368|0.11368	0.989000|0.989000	0.29629|0.29629	0.583000|0.583000	0.29574|0.29574	0.591000|0.591000	0.81541|0.81541	GAA|AGA	HFM1	-	NULL		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	C	NM_001017975		91778974	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	missense	SNP	0.672	G
HIPK1	204851	genome.wustl.edu	37	1	114498227	114498227	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:114498227G>C	ENST00000369558.1	+	5	1595	c.1363G>C	c.(1363-1365)Gaa>Caa	p.E455Q	HIPK1_ENST00000369555.2_Missense_Mutation_p.E455Q|HIPK1_ENST00000369561.4_Missense_Mutation_p.E455Q|HIPK1_ENST00000369554.2_Missense_Mutation_p.E455Q|HIPK1_ENST00000406344.1_Missense_Mutation_p.E61Q|HIPK1_ENST00000340480.4_Missense_Mutation_p.E81Q|HIPK1_ENST00000369559.4_Missense_Mutation_p.E455Q|HIPK1_ENST00000369553.1_Missense_Mutation_p.E61Q|HIPK1_ENST00000426820.2_Missense_Mutation_p.E455Q			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	455	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAATCAAAAGAAGCTCGGAA	0.323																																																	0													107.0	122.0	117.0					1																	114498227		2203	4300	6503	SO:0001583	missense	204851			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1363G>C	1.37:g.114498227G>C	ENSP00000358571:p.Glu455Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E455Q	ENST00000369558.1	37	c.1363	CCDS867.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026798	0.93518	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T;T	0.56444	0.47;0.48;0.52;0.46;0.46;0.52;0.53;3.55;2.36;2.36	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.58004	0.2092	L	0.35288	1.05	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.989	D;D;D	0.97110	1.0;0.992;0.979	T	0.62343	-0.6874	10	0.72032	D	0.01	.	18.7115	0.91658	0.0:0.0:1.0:0.0	.	61;455;455	Q86Z02-4;Q86Z02;Q86Z02-2	.;HIPK1_HUMAN;.	Q	526;455;455;455;455;455;455;81;61;61	ENSP00000407442:E526Q;ENSP00000358572:E455Q;ENSP00000409673:E455Q;ENSP00000358567:E455Q;ENSP00000358568:E455Q;ENSP00000358571:E455Q;ENSP00000358574:E455Q;ENSP00000340956:E81Q;ENSP00000358566:E61Q;ENSP00000384960:E61Q	ENSP00000340956:E81Q	E	+	1	0	HIPK1	114299750	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.657000	0.98554	2.634000	0.89283	0.655000	0.94253	GAA	HIPK1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.323	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	HGNC	protein_coding	OTTHUMT00000033127.1	G	NM_198268		114498227	+1	no_errors	ENST00000369558	ensembl	human	known	70_37	missense	SNP	1.000	C
HIPK1	204851	genome.wustl.edu	37	1	114505025	114505025	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:114505025C>T	ENST00000369558.1	+	9	2300	c.2068C>T	c.(2068-2070)Cag>Tag	p.Q690*	HIPK1_ENST00000369555.2_Nonsense_Mutation_p.Q690*|HIPK1_ENST00000369561.4_Nonsense_Mutation_p.Q656*|HIPK1_ENST00000369554.2_Nonsense_Mutation_p.Q690*|HIPK1_ENST00000406344.1_Nonsense_Mutation_p.Q296*|HIPK1_ENST00000340480.4_Nonsense_Mutation_p.Q316*|HIPK1_ENST00000369559.4_Nonsense_Mutation_p.Q690*|HIPK1_ENST00000369553.1_Nonsense_Mutation_p.Q296*|HIPK1_ENST00000426820.2_Nonsense_Mutation_p.Q690*			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	690					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCAGCTGCTCAGCCACTACA	0.443																																																	0													87.0	79.0	81.0					1																	114505025		2203	4300	6503	SO:0001587	stop_gained	204851			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2068C>T	1.37:g.114505025C>T	ENSP00000358571:p.Gln690*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q690*	ENST00000369558.1	37	c.2068	CCDS867.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.434459	0.98810	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	.	.	.	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	.	.	.	X	761;690;690;690;690;690;656;316;296;296	.	ENSP00000340956:Q316X	Q	+	1	0	HIPK1	114306548	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	CAG	HIPK1	-	NULL		0.443	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	HGNC	protein_coding	OTTHUMT00000033127.1	C	NM_198268		114505025	+1	no_errors	ENST00000369558	ensembl	human	known	70_37	nonsense	SNP	1.000	T
HEATR1	55127	genome.wustl.edu	37	1	236717916	236717916	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:236717916C>T	ENST00000366582.3	-	42	6174	c.6060G>A	c.(6058-6060)atG>atA	p.M2020I	HEATR1_ENST00000366581.2_Missense_Mutation_p.M1939I	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2020					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCAGAGGCATCATCAAGGCTT	0.408																																																	0													90.0	89.0	89.0					1																	236717916		2203	4300	6503	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.6060G>A	1.37:g.236717916C>T	ENSP00000355541:p.Met2020Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.M2020I	ENST00000366582.3	37	c.6060	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852609	0.91355	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.62941	-0.01;-0.01	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.076561	0.85682	D	0.000000	T	0.75708	0.3886	M	0.82056	2.57	0.80722	D	1	B;D	0.58620	0.374;0.983	B;P	0.53102	0.241;0.718	T	0.74636	-0.3599	10	0.38643	T	0.18	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	1939;2020	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	I	2020;1939	ENSP00000355541:M2020I;ENSP00000355540:M1939I	ENSP00000355540:M1939I	M	-	3	0	HEATR1	234784539	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.099000	0.76981	2.941000	0.99782	0.655000	0.94253	ATG	HEATR1	-	superfamily_ARM-type_fold		0.408	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	C	XM_375853		236717916	-1	no_errors	ENST00000366582	ensembl	human	known	70_37	missense	SNP	1.000	T
HIVEP2	3097	genome.wustl.edu	37	6	143093707	143093707	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr6:143093707G>A	ENST00000367604.1	-	4	2808	c.2169C>T	c.(2167-2169)atC>atT	p.I723I	HIVEP2_ENST00000012134.2_Silent_p.I723I|HIVEP2_ENST00000367603.2_Silent_p.I723I			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	723					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CGGAAGCCATGATGCCCACAG	0.522																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													121.0	130.0	127.0					6																	143093707		2123	4238	6361	SO:0001819	synonymous_variant	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.2169C>T	6.37:g.143093707G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q02646|Q5THT5|Q9NS05	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I723	ENST00000367604.1	37	c.2169	CCDS43510.1	6																																																																																			HIVEP2	-	NULL		0.522	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	G			143093707	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	silent	SNP	0.000	A
HKDC1	80201	genome.wustl.edu	37	10	70992572	70992572	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:70992572G>A	ENST00000354624.5	+	3	412	c.279G>A	c.(277-279)ctG>ctA	p.L93L	HKDC1_ENST00000395086.2_Silent_p.L93L|RP11-227H15.4_ENST00000450995.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	93	Hexokinase type-1 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCCGAGTGCTGAAGGTGCAAG	0.498																																																	0													140.0	132.0	135.0					10																	70992572		2203	4300	6503	SO:0001819	synonymous_variant	80201				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.279G>A	10.37:g.70992572G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.L93	ENST00000354624.5	37	c.279	CCDS7288.1	10																																																																																			HKDC1	-	pfam_Hexokinase_N		0.498	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	HGNC	protein_coding	OTTHUMT00000048389.1	G	NM_025130		70992572	+1	no_errors	ENST00000354624	ensembl	human	known	70_37	silent	SNP	0.992	A
HMCN1	83872	genome.wustl.edu	37	1	186064492	186064492	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:186064492G>A	ENST00000271588.4	+	68	10641	c.10412G>A	c.(10411-10413)aGa>aAa	p.R3471K	HMCN1_ENST00000367492.2_Missense_Mutation_p.R3471K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3471	Ig-like C2-type 33.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCCTGGCTTAGAGATGGCCAG	0.517																																																	0													62.0	58.0	59.0					1																	186064492		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10412G>A	1.37:g.186064492G>A	ENSP00000271588:p.Arg3471Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.R3471K	ENST00000271588.4	37	c.10412	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	0.978	-0.698014	0.03279	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.74002	-0.8;-0.8	5.2	-1.39	0.08997	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.289255	0.42548	N	0.000695	T	0.39989	0.1099	N	0.02247	-0.625	0.39990	D	0.975022	B	0.06786	0.001	B	0.09377	0.004	T	0.45469	-0.9259	10	0.02654	T	1	.	10.9234	0.47178	0.7998:0.0:0.2002:0.0	.	3471	Q96RW7	HMCN1_HUMAN	K	3471	ENSP00000271588:R3471K;ENSP00000356462:R3471K	ENSP00000271588:R3471K	R	+	2	0	HMCN1	184331115	1.000000	0.71417	0.471000	0.27229	0.333000	0.28666	1.050000	0.30404	-0.315000	0.08703	0.561000	0.74099	AGA	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.517	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	G	NM_031935		186064492	+1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	0.964	A
HNRNPUL2	221092	genome.wustl.edu	37	11	62488794	62488794	+	Silent	SNP	C	C	T	rs200608017		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:62488794C>T	ENST00000301785.5	-	9	1776	c.1584G>A	c.(1582-1584)cgG>cgA	p.R528R	HNRNPUL2-BSCL2_ENST00000403734.2_Silent_p.R528R	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	528						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCCTCTTTGTCCGGGAAGCAA	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		19117	0.0		0.001	False		,,,				2504	0.0																0								C		0,3772		0,0,1886	178.0	187.0	184.0		1584	2.2	1.0	11		184	1,8221		0,1,4110	no	coding-synonymous	HNRNPUL2	NM_001079559.2		0,1,5996	TT,TC,CC		0.0122,0.0,0.0083		528/748	62488794	1,11993	1886	4111	5997	SO:0001819	synonymous_variant	221092				CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1584G>A	11.37:g.62488794C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N3B3	Silent	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.R528	ENST00000301785.5	37	c.1584	CCDS41659.1	11																																																																																			HNRNPUL2	-	pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12		0.453	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL2	HGNC	protein_coding	OTTHUMT00000396208.2	C	XM_495877		62488794	-1	no_errors	ENST00000301785	ensembl	human	known	70_37	silent	SNP	1.000	T
HUWE1	10075	genome.wustl.edu	37	X	53579331	53579331	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:53579331C>T	ENST00000342160.3	-	62	9279	c.8822G>A	c.(8821-8823)cGa>cAa	p.R2941Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.R2941Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2941					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TAGGATTCCTCGGGAATCTGC	0.537																																																	0													66.0	59.0	61.0					X																	53579331		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8822G>A	X.37:g.53579331C>T	ENSP00000340648:p.Arg2941Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.R2941Q	ENST00000342160.3	37	c.8822	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399046	0.42512	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.33654	1.4;1.4	5.95	5.09	0.68999	.	0.273076	0.33180	N	0.005193	T	0.16471	0.0396	N	0.04508	-0.205	0.28532	N	0.912537	B;B	0.13145	0.007;0.0	B;B	0.06405	0.002;0.0	T	0.14035	-1.0487	10	0.07482	T	0.82	.	13.1829	0.59666	0.0:0.9204:0.0:0.0796	.	2941;2941	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	Q	2941	ENSP00000340648:R2941Q;ENSP00000262854:R2941Q	ENSP00000262854:R2941Q	R	-	2	0	HUWE1	53596056	0.999000	0.42202	0.998000	0.56505	0.984000	0.73092	3.660000	0.54496	1.281000	0.44480	0.529000	0.55759	CGA	HUWE1	-	NULL		0.537	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	C	XM_497119		53579331	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	0.994	T
IGFN1	91156	genome.wustl.edu	37	1	201185875	201185875	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:201185875C>T	ENST00000335211.4	+	16	9719	c.9589C>T	c.(9589-9591)Cct>Tct	p.P3197S	IGFN1_ENST00000295591.8_Missense_Mutation_p.P357S	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	740						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATTGGTGGCTCCTGAGGGTGA	0.647																																																	0													28.0	35.0	33.0					1																	201185875		2203	4300	6503	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9589C>T	1.37:g.201185875C>T	ENSP00000334714:p.Pro3197Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P3197S	ENST00000335211.4	37	c.9589	CCDS53455.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.98|11.98	1.799258|1.799258	0.31869|0.31869	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000335211;ENST00000295591|ENST00000412892	D;D|.	0.82255|.	-1.59;-1.59|.	4.06|4.06	3.05|3.05	0.35203|0.35203	.|.	0.249386|.	0.33075|.	N|.	0.005302|.	T|T	0.36054|0.36054	0.0953|0.0953	L|L	0.51853|0.51853	1.615|1.615	0.27414|0.27414	N|N	0.954492|0.954492	B|.	0.22851|.	0.076|.	B|.	0.32762|.	0.152|.	T|T	0.36768|0.36768	-0.9734|-0.9734	10|5	0.15066|.	T|.	0.55|.	.|.	0.9857|0.9857	0.01446|0.01446	0.2196:0.3943:0.2134:0.1728|0.2196:0.3943:0.2134:0.1728	.|.	3197|.	F8WAI1|.	.|.	S|F	3197;357|614	ENSP00000334714:P3197S;ENSP00000295591:P357S|.	ENSP00000295591:P357S|.	P|S	+|+	1|2	0|0	IGFN1|IGFN1	199452498|199452498	0.279000|0.279000	0.24239|0.24239	0.998000|0.998000	0.56505|0.56505	0.838000|0.838000	0.47535|0.47535	1.674000|1.674000	0.37544|0.37544	2.096000|2.096000	0.63516|0.63516	0.561000|0.561000	0.74099|0.74099	CCT|TCC	IGFN1	-	superfamily_Fibronectin_type3		0.647	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		C	NM_178275		201185875	+1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.936	T
IGSF22	283284	genome.wustl.edu	37	11	18743564	18743564	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:18743564G>A	ENST00000513874.1	-	3	273	c.134C>T	c.(133-135)tCg>tTg	p.S45L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	45										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CACTATGCTCGAGGACTTCCT	0.607											OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													71.0	75.0	74.0					11																	18743564		2020	4161	6181	SO:0001583	missense	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.134C>T	11.37:g.18743564G>A	ENSP00000421191:p.Ser45Leu	Somatic	90	WXS	Illumina HiSeq	Phase_IV	A6NNA0|D6RGV7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S45L	ENST00000513874.1	37	c.134	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234526	0.79800	.	.	ENSG00000179057	ENST00000513874	T	0.51817	0.69	5.04	0.638	0.17742	.	0.000000	0.29916	U	0.010867	T	0.19725	0.0474	N	0.14661	0.345	0.09310	N	0.999999	P	0.34955	0.477	B	0.22753	0.041	T	0.11251	-1.0595	10	0.26408	T	0.33	.	4.6629	0.12652	0.0785:0.1241:0.5724:0.225	.	45	D6RGV7	.	L	45	ENSP00000421191:S45L	ENSP00000322422:S45L	S	-	2	0	IGSF22	18700140	0.980000	0.34600	0.003000	0.11579	0.959000	0.62525	1.833000	0.39161	0.097000	0.17492	0.655000	0.94253	TCG	IGSF22	-	NULL		0.607	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	G	NM_173588		18743564	-1	no_errors	ENST00000513874	ensembl	human	known	70_37	missense	SNP	0.141	A
IL17C	27189	genome.wustl.edu	37	16	88706364	88706364	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:88706364C>A	ENST00000244241.4	+	3	527	c.478C>A	c.(478-480)Cgc>Agc	p.R160S		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	160					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GGTGCTGCGCCGCCGGCCCTG	0.706																																																	0													24.0	30.0	28.0					16																	88706364		2031	4160	6191	SO:0001583	missense	27189			AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"""Interleukins and interleukin receptors"""	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.478C>A	16.37:g.88706364C>A	ENSP00000244241:p.Arg160Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MIG8|Q9HC75	Missense_Mutation	SNP	pfam_Interleukin-17,prints_Interleukin-17_chordata	p.R160S	ENST00000244241.4	37	c.478	CCDS42217.1	16	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962938	0.74016	.	.	ENSG00000124391	ENST00000244241	T	0.68331	-0.32	4.45	4.45	0.53987	.	0.118143	0.36167	N	0.002758	D	0.84347	0.5452	M	0.89715	3.055	0.32784	N	0.502037	D	0.89917	1.0	D	0.91635	0.999	D	0.90191	0.4250	10	0.87932	D	0	-33.1367	14.8684	0.70434	0.0:1.0:0.0:0.0	.	160	Q9P0M4	IL17C_HUMAN	S	160	ENSP00000244241:R160S	ENSP00000244241:R160S	R	+	1	0	IL17C	87233865	0.988000	0.35896	0.997000	0.53966	0.622000	0.37654	3.017000	0.49615	2.032000	0.59987	0.561000	0.74099	CGC	IL17C	-	pfam_Interleukin-17		0.706	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17C	HGNC	protein_coding	OTTHUMT00000422575.1	C	NM_013278		88706364	+1	no_errors	ENST00000244241	ensembl	human	known	70_37	missense	SNP	0.991	A
INCENP	3619	genome.wustl.edu	37	11	61919295	61919295	+	Silent	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:61919295C>G	ENST00000394818.3	+	19	2806	c.2604C>G	c.(2602-2604)ctC>ctG	p.L868L	INCENP_ENST00000278849.4_Silent_p.L864L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	868					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTCTGGAGCTCTTTGGAACCA	0.577																																																	0													112.0	100.0	104.0					11																	61919295		2202	4299	6501	SO:0001819	synonymous_variant	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2604C>G	11.37:g.61919295C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQD2|Q5Y192	Silent	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.L868	ENST00000394818.3	37	c.2604	CCDS44624.1	11																																																																																			INCENP	-	pfam_Inner_centromere_prot_ARK-bd		0.577	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	C	NM_020238		61919295	+1	no_errors	ENST00000394818	ensembl	human	known	70_37	silent	SNP	1.000	G
INO80E	283899	genome.wustl.edu	37	16	30016734	30016734	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:30016734G>A	ENST00000563197.1	+	7	1723	c.706G>A	c.(706-708)Gat>Aat	p.D236N	INO80E_ENST00000567705.1_Missense_Mutation_p.D219N|INO80E_ENST00000304516.7_Missense_Mutation_p.D197N	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	236					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						GGATGGAGACGATGACCTGGT	0.672											OREG0023725	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													65.0	51.0	56.0					16																	30016734		2196	4299	6495	SO:0001583	missense	283899			AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"""INO80 complex subunits"""	26905	protein-coding gene	gene with protein product			"""coiled-coil domain containing 95"""	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.706G>A	16.37:g.30016734G>A	ENSP00000457016:p.Asp236Asn	Somatic	814	WXS	Illumina HiSeq	Phase_IV	Q6Y2K3	Missense_Mutation	SNP	NULL	p.D236N	ENST00000563197.1	37	c.706	CCDS10665.1	16	.	.	.	.	.	.	.	.	.	.	G	7.691	0.691040	0.15039	.	.	ENSG00000169592	ENST00000304516	.	.	.	5.28	4.32	0.51571	.	0.153244	0.56097	D	0.000021	T	0.67915	0.2944	L	0.43152	1.355	0.37305	D	0.908868	D	0.76494	0.999	D	0.74023	0.982	T	0.74542	-0.3631	9	0.72032	D	0.01	-2.9172	13.7608	0.62966	0.0:0.1552:0.8448:0.0	.	236	Q8NBZ0	IN80E_HUMAN	N	236	.	ENSP00000303977:D236N	D	+	1	0	INO80E	29924235	1.000000	0.71417	0.970000	0.41538	0.024000	0.10985	5.909000	0.69923	1.217000	0.43442	-0.304000	0.09214	GAT	INO80E	-	NULL		0.672	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80E	HGNC	protein_coding	OTTHUMT00000255156.2	G	NM_173618		30016734	+1	no_errors	ENST00000563197	ensembl	human	known	70_37	missense	SNP	0.996	A
INSIG1	3638	genome.wustl.edu	37	7	155090262	155090262	+	Silent	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr7:155090262C>G	ENST00000340368.4	+	2	478	c.267C>G	c.(265-267)ctC>ctG	p.L89L	AC144652.1_ENST00000609974.1_lincRNA|INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_Silent_p.L89L	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	89					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGAGGAGCCTCGTGCTCTTCT	0.657																																																	0													52.0	48.0	49.0					7																	155090262		2202	4299	6501	SO:0001819	synonymous_variant	3638				CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"""INSIG-1 membrane protein"""	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.267C>G	7.37:g.155090262C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Silent	SNP	pfam_INSIG_fam	p.L89	ENST00000340368.4	37	c.267	CCDS5938.1	7																																																																																			INSIG1	-	pfam_INSIG_fam		0.657	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG1	HGNC	protein_coding	OTTHUMT00000322244.3	C	NM_198336		155090262	+1	no_errors	ENST00000340368	ensembl	human	known	70_37	silent	SNP	0.632	G
IPO5	3843	genome.wustl.edu	37	13	98654945	98654945	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:98654945G>C	ENST00000490680.1	+	12	1306	c.1241G>C	c.(1240-1242)aGa>aCa	p.R414T	IPO5_ENST00000539640.1_Missense_Mutation_p.R289T|IPO5_ENST00000261574.5_Missense_Mutation_p.R432T			O00410	IPO5_HUMAN	importin 5	414					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CAGCATCCAAGAGTAAGGTAT	0.383																																																	0													103.0	104.0	104.0					13																	98654945		2203	4300	6503	SO:0001583	missense	3843			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1241G>C	13.37:g.98654945G>C	ENSP00000418393:p.Arg414Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.R432T	ENST00000490680.1	37	c.1295		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.69|19.69	3.874927|3.874927	0.72180|0.72180	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.22945	.|1.93;1.93;1.93;1.93	5.46|5.46	5.46|5.46	0.80206|0.80206	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63343|0.63343	0.2503|0.2503	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;0.999	T|T	0.73088|0.73088	-0.4093|-0.4093	5|10	.|0.87932	.|D	.|0	-13.7241|-13.7241	19.3053|19.3053	0.94158|0.94158	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|289;414;432	.|B4E0R6;O00410;O00410-3	.|.;IPO5_HUMAN;.	Q|T	416|432;414;414;289	.|ENSP00000261574:R432T;ENSP00000350219:R414T;ENSP00000418393:R414T;ENSP00000445126:R289T	.|ENSP00000261574:R432T	E|R	+|+	1|2	0|0	IPO5|IPO5	97452946|97452946	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.388000|0.388000	0.30384|0.30384	9.827000|9.827000	0.99397|0.99397	2.551000|2.551000	0.86045|0.86045	0.460000|0.460000	0.39030|0.39030	GAG|AGA	IPO5	-	pfam_HEAT,superfamily_ARM-type_fold		0.383	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	IPO5	HGNC	protein_coding	OTTHUMT00000354655.1	G	NM_002271		98654945	+1	no_errors	ENST00000261574	ensembl	human	known	70_37	missense	SNP	1.000	C
IPO7	10527	genome.wustl.edu	37	11	9424908	9424908	+	Silent	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:9424908G>C	ENST00000379719.3	+	2	298	c.156G>C	c.(154-156)gtG>gtC	p.V52V	IPO7_ENST00000533680.1_3'UTR	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	52	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ATTTACCTGTGAGACAGGCAG	0.378																																																	0													93.0	84.0	87.0					11																	9424908		2201	4296	6497	SO:0001819	synonymous_variant	10527			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.156G>C	11.37:g.9424908G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Silent	SNP	pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.V52	ENST00000379719.3	37	c.156	CCDS31425.1	11																																																																																			IPO7	-	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N		0.378	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO7	HGNC	protein_coding	OTTHUMT00000386022.1	G	NM_006391		9424908	+1	no_errors	ENST00000379719	ensembl	human	known	70_37	silent	SNP	1.000	C
IPO9	55705	genome.wustl.edu	37	1	201843430	201843430	+	Silent	SNP	C	C	T	rs572168085		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:201843430C>T	ENST00000361565.4	+	21	2832	c.2763C>T	c.(2761-2763)atC>atT	p.I921I		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	921					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TAAAGCTGATCATCAACGAGC	0.522																																																	0													135.0	126.0	129.0					1																	201843430		2203	4300	6503	SO:0001819	synonymous_variant	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2763C>T	1.37:g.201843430C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Silent	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.I921	ENST00000361565.4	37	c.2763	CCDS1415.1	1																																																																																			IPO9	-	superfamily_ARM-type_fold		0.522	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO9	HGNC	protein_coding	OTTHUMT00000087088.1	C	NM_018085		201843430	+1	no_errors	ENST00000361565	ensembl	human	known	70_37	silent	SNP	1.000	T
IQCH	64799	genome.wustl.edu	37	15	67571776	67571776	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:67571776C>G	ENST00000335894.4	+	4	379	c.313C>G	c.(313-315)Cag>Gag	p.Q105E	IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000512104.1_Missense_Mutation_p.Q105E	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	105										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TATTTTCCCTCAGGAATCTGA	0.348																																																	0													49.0	48.0	48.0					15																	67571776		2201	4299	6500	SO:0001583	missense	64799			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.313C>G	15.37:g.67571776C>G	ENSP00000336861:p.Gln105Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.Q105E	ENST00000335894.4	37	c.313	CCDS32273.1	15	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945264	0.34283	.	.	ENSG00000103599	ENST00000512104;ENST00000335894;ENST00000535744	T	0.42513	0.97	5.26	2.25	0.28309	.	0.630884	0.14624	N	0.308207	T	0.16300	0.0392	N	0.08118	0	0.40674	D	0.98224	B;B	0.25521	0.053;0.128	B;B	0.25987	0.063;0.065	T	0.19063	-1.0317	10	0.02654	T	1	-0.0027	4.1589	0.10273	0.1929:0.614:0.0:0.193	.	105;105	Q86VS3;B4E2J4	IQCH_HUMAN;.	E	105	ENSP00000336861:Q105E	ENSP00000336861:Q105E	Q	+	1	0	IQCH	65358830	0.027000	0.19231	0.997000	0.53966	0.976000	0.68499	-0.585000	0.05794	0.669000	0.31146	-0.136000	0.14681	CAG	IQCH	-	NULL		0.348	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCH	HGNC	protein_coding	OTTHUMT00000256969.1	C	NM_022784		67571776	+1	no_errors	ENST00000335894	ensembl	human	known	70_37	missense	SNP	0.672	G
IRF3	3661	genome.wustl.edu	37	19	50168985	50168985	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:50168985G>A	ENST00000597198.1	-	0	129				IRF3_ENST00000596822.1_De_novo_Start_InFrame|BCL2L12_ENST00000441864.2_5'UTR|BCL2L12_ENST00000246784.3_5'Flank|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000596765.1_5'Flank|IRF3_ENST00000601291.1_De_novo_Start_OutOfFrame|IRF3_ENST00000377139.3_De_novo_Start_OutOfFrame|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000600022.1_5'Flank|IRF3_ENST00000598808.1_De_novo_Start_OutOfFrame|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000309877.7_5'Flank|BCL2L12_ENST00000246785.3_5'UTR|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000599144.1_De_novo_Start_OutOfFrame			Q14653	IRF3_HUMAN	interferon regulatory factor 3						apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CCCCTTTCCCGTCAGCTGAGC	0.547																																																	0																																												3661				CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.-253C>T	19.37:g.50168985G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	RNA	SNP	-	NULL	ENST00000597198.1	37	NULL	CCDS12775.1	19																																																																																			IRF3	-	-		0.547	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IRF3	HGNC	protein_coding	OTTHUMT00000465962.1	G	NM_001571		50168985	-1	no_errors	ENST00000597180	ensembl	human	known	70_37	rna	SNP	0.838	A
ITIH1	3697	genome.wustl.edu	37	3	52825552	52825552	+	Silent	SNP	C	C	T	rs143276781	byFrequency	TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:52825552C>T	ENST00000273283.2	+	21	2538	c.2514C>T	c.(2512-2514)atC>atT	p.I838I	ITIH1_ENST00000540715.1_Silent_p.I696I|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000537050.1_Silent_p.I550I|ITIH1_ENST00000405128.3_Silent_p.I204I	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	838	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.I838I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TCCACCCCATCGGTTTTGAAG	0.597																																																	1	Substitution - coding silent(1)	NS(1)						C	,,,	1,4405	2.1+/-5.4	0,1,2202	87.0	83.0	84.0		2088,1650,1650,2514	-3.4	0.1	3	dbSNP_134	84	3,8597	3.7+/-12.6	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ITIH1	NM_001166434.1,NM_001166435.1,NM_001166436.1,NM_002215.2	,,,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,,,	696/770,550/624,550/624,838/912	52825552	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	3697				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2514C>T	3.37:g.52825552C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.I838	ENST00000273283.2	37	c.2514	CCDS2864.1	3																																																																																			ITIH1	-	pfam_ITI_HC_C		0.597	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	HGNC	protein_coding	OTTHUMT00000317522.1	C	NM_002215		52825552	+1	no_errors	ENST00000273283	ensembl	human	known	70_37	silent	SNP	0.538	T
ITK	3702	genome.wustl.edu	37	5	156667073	156667073	+	Splice_Site	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:156667073G>A	ENST00000422843.3	+	10	1005	c.853G>A	c.(853-855)Gag>Aag	p.E285K		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	285	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	TTGTTTAAGTGAGAACAATCC	0.318			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													109.0	95.0	100.0					5																	156667073		2203	4300	6503	SO:0001630	splice_region_variant	3702			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.852-1G>A	5.37:g.156667073G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R752|Q32ML7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E285K	ENST00000422843.3	37	c.853	CCDS4336.1	5	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752293	0.69533	.	.	ENSG00000113263	ENST00000422843	T	0.75704	-0.96	5.73	5.73	0.89815	SH2 motif (4);	0.349077	0.30446	N	0.009618	T	0.77987	0.4213	M	0.76838	2.35	0.51482	D	0.999924	P	0.38711	0.643	B	0.38921	0.285	T	0.77973	-0.2386	10	0.40728	T	0.16	.	19.8847	0.96909	0.0:0.0:1.0:0.0	.	285	Q08881	ITK_HUMAN	K	285	ENSP00000398655:E285K	ENSP00000398655:E285K	E	+	1	0	ITK	156599651	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	8.602000	0.90868	2.713000	0.92767	0.655000	0.94253	GAG	ITK	-	pfam_SH2,smart_SH2,pfscan_SH2		0.318	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	G		Missense_Mutation	156667073	+1	no_errors	ENST00000422843	ensembl	human	known	70_37	missense	SNP	1.000	A
KBTBD12	166348	genome.wustl.edu	37	3	127642675	127642675	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:127642675C>T	ENST00000405109.1	+	2	1238	c.771C>T	c.(769-771)atC>atT	p.I257I	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Silent_p.I257I|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	257										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TCAAAGCCATCAAGACACCCC	0.403																																																	0													165.0	157.0	160.0					3																	127642675		1971	4159	6130	SO:0001819	synonymous_variant	166348				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.771C>T	3.37:g.127642675C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MCC6|Q6ZRK1	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.I257	ENST00000405109.1	37	c.771	CCDS33848.2	3																																																																																			KBTBD12	-	pirsf_Kelch-like_gigaxonin		0.403	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD12	HGNC	protein_coding	OTTHUMT00000318682.1	C	NM_207335		127642675	+1	no_errors	ENST00000405109	ensembl	human	known	70_37	silent	SNP	1.000	T
KCNJ11	3767	genome.wustl.edu	37	11	17409138	17409138	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:17409138G>C	ENST00000339994.4	-	1	1068	c.501C>G	c.(499-501)atC>atG	p.I167M	KCNJ11_ENST00000528731.1_Missense_Mutation_p.I80M|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	167					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	TCTTCATGAAGATGCAGCCAA	0.607											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													79.0	64.0	69.0					11																	17409138		2200	4293	6493	SO:0001583	missense	3767			D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.501C>G	11.37:g.17409138G>C	ENSP00000345708:p.Ile167Met	Somatic	717	WXS	Illumina HiSeq	Phase_IV	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	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_Kir6.2	p.I167M	ENST00000339994.4	37	c.501	CCDS31436.1	11	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157408	0.38119	.	.	ENSG00000187486	ENST00000339994;ENST00000528731;ENST00000526912	D;D;D	0.94537	-3.45;-3.45;-3.45	5.16	5.16	0.70880	.	0.052805	0.85682	D	0.000000	D	0.95427	0.8515	L	0.48935	1.535	0.80722	D	1	D	0.67145	0.996	D	0.69307	0.963	D	0.93001	0.6423	10	0.10902	T	0.67	.	18.6357	0.91378	0.0:0.0:1.0:0.0	.	167	B2RC52	.	M	167;80;80	ENSP00000345708:I167M;ENSP00000434755:I80M;ENSP00000432729:I80M	ENSP00000345708:I167M	I	-	3	3	KCNJ11	17365714	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.758000	0.74929	2.398000	0.81561	0.462000	0.41574	ATC	KCNJ11	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.607	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ11	HGNC	protein_coding	OTTHUMT00000387037.1	G	NM_000525		17409138	-1	no_errors	ENST00000339994	ensembl	human	known	70_37	missense	SNP	1.000	C
KCNC1	3746	genome.wustl.edu	37	11	17793409	17793409	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:17793409C>T	ENST00000379472.3	+	2	798	c.768C>T	c.(766-768)ttC>ttT	p.F256F	KCNC1_ENST00000265969.6_Silent_p.F256F	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	256					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	TGGTCTGGTTCACCTTCGAGT	0.542																																																	0													334.0	278.0	297.0					11																	17793409		2200	4293	6493	SO:0001819	synonymous_variant	3746			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.768C>T	11.37:g.17793409C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	K4DI87	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.F256	ENST00000379472.3	37	c.768	CCDS7827.1	11																																																																																			KCNC1	-	pfam_Ion_trans_dom,prints_K_chnl		0.542	KCNC1-001	KNOWN	basic|CCDS	protein_coding	KCNC1	HGNC	protein_coding	OTTHUMT00000389389.1	C	NM_004976		17793409	+1	no_errors	ENST00000265969	ensembl	human	known	70_37	silent	SNP	1.000	T
KCNJ16	3773	genome.wustl.edu	37	17	68128231	68128231	+	Start_Codon_SNP	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:68128231G>A	ENST00000589377.1	+	2	166	c.3G>A	c.(1-3)atG>atA	p.M1I	KCNJ16_ENST00000392671.1_Start_Codon_SNP_p.M1I|KCNJ16_ENST00000283936.1_Start_Codon_SNP_p.M1I|KCNJ16_ENST00000586462.1_Missense_Mutation_p.M40I|KCNJ16_ENST00000392670.1_Start_Codon_SNP_p.M1I|KCNJ16_ENST00000585558.1_Missense_Mutation_p.M36I	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	1					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AGCAAAGAATGAGCTATTACG	0.428																																																	0													50.0	45.0	47.0					17																	68128231		2203	4300	6503	SO:0001582	initiator_codon_variant	3773			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.3G>A	17.37:g.68128231G>A	ENSP00000465967:p.Met1Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir	p.M1I	ENST00000589377.1	37	c.3	CCDS11687.1	17	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582551	0.46006	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.88431	-2.38;-2.38;-2.38	5.99	5.99	0.97316	.	0.176233	0.64402	D	0.000018	T	0.82181	0.4981	.	.	.	0.80722	D	1	B;B	0.15473	0.013;0.005	B;B	0.12837	0.008;0.004	T	0.75297	-0.3367	8	.	.	.	.	13.2984	0.60311	0.0727:0.0:0.9273:0.0	.	1;1	A8K434;Q9NPI9	.;IRK16_HUMAN	I	1	ENSP00000283936:M1I;ENSP00000376439:M1I;ENSP00000376438:M1I	.	M	+	3	0	KCNJ16	65639826	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	4.161000	0.58170	2.831000	0.97527	0.650000	0.86243	ATG	KCNJ16	-	prints_K_chnl_inward-rec_Kir5		0.428	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ16	HGNC	protein_coding	OTTHUMT00000450880.1	G	NM_018658	Missense_Mutation	68128231	+1	no_errors	ENST00000283936	ensembl	human	known	70_37	missense	SNP	0.981	A
KCNQ3	3786	genome.wustl.edu	37	8	133492621	133492621	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr8:133492621G>A	ENST00000388996.4	-	1	579	c.159C>T	c.(157-159)gtC>gtT	p.V53V	KCNQ3_ENST00000519445.1_Silent_p.V53V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	53					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GCGCCAAGGTGACTTGCTCCA	0.781																																																	0													7.0	9.0	8.0					8																	133492621		2124	4162	6286	SO:0001819	synonymous_variant	3786			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.159C>T	8.37:g.133492621G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2VCT8|B4DJY4|E7EQ89	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.V53	ENST00000388996.4	37	c.159	CCDS34943.1	8																																																																																			KCNQ3	-	NULL		0.781	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	G	NM_004519		133492621	-1	no_errors	ENST00000388996	ensembl	human	known	70_37	silent	SNP	1.000	A
KDM5B	10765	genome.wustl.edu	37	1	202698923	202698923	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:202698923G>C	ENST00000367265.3	-	26	5573	c.4409C>G	c.(4408-4410)tCa>tGa	p.S1470*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.S1506*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1470					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GGATGTGTCTGAGGGCAGGGA	0.483																																																	0													187.0	173.0	178.0					1																	202698923		2203	4300	6503	SO:0001587	stop_gained	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4409C>G	1.37:g.202698923G>C	ENSP00000356234:p.Ser1470*	Somatic		WXS	Illumina HiSeq	Phase_IV	O95811|Q15752|Q9Y3Q5	Nonsense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.S1470*	ENST00000367265.3	37	c.4409	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.671922	0.99234	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264	.	.	.	5.44	5.44	0.79542	.	0.066958	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-6.2997	19.2668	0.93990	0.0:0.0:1.0:0.0	.	.	.	.	X	1470;1312;1506	.	ENSP00000356233:S1506X	S	-	2	0	KDM5B	200965546	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.681000	0.68175	2.544000	0.85801	0.650000	0.86243	TCA	KDM5B	-	superfamily_Znf_FYVE_PHD		0.483	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	G	NM_006618		202698923	-1	no_errors	ENST00000367265	ensembl	human	known	70_37	nonsense	SNP	1.000	C
KDM5C	8242	genome.wustl.edu	37	X	53228335	53228335	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:53228335G>A	ENST00000375401.3	-	15	2599	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	KDM5C_ENST00000375383.3_Silent_p.I648I|KDM5C_ENST00000404049.3_Silent_p.I688I|KDM5C_ENST00000375379.3_Silent_p.I689I|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000452825.3_Silent_p.I622I	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	689					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CAGCCTCTGTGATACCCTAAG	0.502			"""N, F, S"""		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													118.0	102.0	108.0					X																	53228335		2203	4300	6503	SO:0001819	synonymous_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2067C>T	X.37:g.53228335G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.I689	ENST00000375401.3	37	c.2067	CCDS14351.1	X																																																																																			KDM5C	-	NULL		0.502	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	G	NM_004187		53228335	-1	no_errors	ENST00000375401	ensembl	human	known	70_37	silent	SNP	1.000	A
KIAA1524	57650	genome.wustl.edu	37	3	108278654	108278654	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:108278654C>T	ENST00000295746.8	-	16	2039	c.1963G>A	c.(1963-1965)Gat>Aat	p.D655N	KIAA1524_ENST00000487834.1_5'Flank|KIAA1524_ENST00000491772.1_Missense_Mutation_p.D496N	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	655					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATCAGTCTATCAGCCTGTGCA	0.353																																																	0													66.0	65.0	65.0					3																	108278654		2203	4300	6503	SO:0001583	missense	57650			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1963G>A	3.37:g.108278654C>T	ENSP00000295746:p.Asp655Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D655N	ENST00000295746.8	37	c.1963	CCDS33812.1	3	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857310	0.91433	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.39406	1.08;1.08	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64402	-0.6416	10	0.59425	D	0.04	-20.4666	20.5568	0.99304	0.0:1.0:0.0:0.0	.	655	Q8TCG1	CIP2A_HUMAN	N	496;655	ENSP00000419487:D496N;ENSP00000295746:D655N	ENSP00000295746:D655N	D	-	1	0	KIAA1524	109761344	1.000000	0.71417	0.992000	0.48379	0.747000	0.42532	7.125000	0.77193	2.861000	0.98227	0.655000	0.94253	GAT	KIAA1524	-	NULL		0.353	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1524	HGNC	protein_coding	OTTHUMT00000353975.2	C	NM_020890		108278654	-1	no_errors	ENST00000295746	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA1407	57577	genome.wustl.edu	37	3	113724430	113724430	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:113724430G>C	ENST00000295878.3	-	10	1939	c.1793C>G	c.(1792-1794)gCa>gGa	p.A598G	KIAA1407_ENST00000545063.1_Missense_Mutation_p.A429G	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	598										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTCTGTGACTGCTAAGGCATG	0.493																																																	0													128.0	127.0	127.0					3																	113724430		2203	4300	6503	SO:0001583	missense	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1793C>G	3.37:g.113724430G>C	ENSP00000295878:p.Ala598Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYL1|Q9P2E0	Missense_Mutation	SNP	NULL	p.A598G	ENST00000295878.3	37	c.1793	CCDS2977.1	3	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707774	0.30322	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.52526	1.38;0.76;0.66	5.14	2.4	0.29515	.	0.442525	0.25549	N	0.029915	T	0.50769	0.1635	L	0.43152	1.355	0.09310	N	1	D;B;D	0.67145	0.996;0.037;0.996	P;B;P	0.58130	0.833;0.039;0.833	T	0.39313	-0.9620	10	0.44086	T	0.13	.	9.5313	0.39196	0.2343:0.0:0.7657:0.0	.	585;474;598	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	G	598;429;585	ENSP00000295878:A598G;ENSP00000446381:A429G;ENSP00000418099:A585G	ENSP00000295878:A598G	A	-	2	0	KIAA1407	115207120	0.194000	0.23325	0.001000	0.08648	0.038000	0.13279	2.013000	0.40942	0.343000	0.23821	0.655000	0.94253	GCA	KIAA1407	-	NULL		0.493	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	G	NM_020817		113724430	-1	no_errors	ENST00000295878	ensembl	human	known	70_37	missense	SNP	0.008	C
KIF20B	9585	genome.wustl.edu	37	10	91497950	91497950	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:91497950G>C	ENST00000371728.3	+	20	3417	c.3352G>C	c.(3352-3354)Gaa>Caa	p.E1118Q	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.E1148Q|KIF20B_ENST00000394289.2_Missense_Mutation_p.E1118Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.E1078Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1118					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAAGAAAAAGAAACTCTTAT	0.338																																																	0													48.0	55.0	53.0					10																	91497950		2199	4289	6488	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3352G>C	10.37:g.91497950G>C	ENSP00000360793:p.Glu1118Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E1148Q	ENST00000371728.3	37	c.3442		10	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697690	0.48307	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.71222	-0.48;-0.47;-0.55;-0.48	5.87	5.87	0.94306	.	0.117407	0.38492	N	0.001665	T	0.72914	0.3520	L	0.56769	1.78	0.30328	N	0.786948	P;D	0.53885	0.938;0.963	B;P	0.48270	0.368;0.572	T	0.76135	-0.3070	10	0.66056	D	0.02	-10.9199	14.3637	0.66789	0.0705:0.0:0.9294:0.0	.	1118;1078	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	Q	1078;1148;1118;1118	ENSP00000260753:E1078Q;ENSP00000411545:E1148Q;ENSP00000377830:E1118Q;ENSP00000360793:E1118Q	ENSP00000260753:E1078Q	E	+	1	0	KIF20B	91487930	1.000000	0.71417	0.994000	0.49952	0.663000	0.39108	4.361000	0.59461	2.779000	0.95612	0.591000	0.81541	GAA	KIF20B	-	NULL		0.338	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	G	NM_016195		91497950	+1	no_errors	ENST00000416354	ensembl	human	known	70_37	missense	SNP	1.000	C
KIF23	9493	genome.wustl.edu	37	15	69718494	69718494	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:69718494G>A	ENST00000260363.4	+	8	937	c.820G>A	c.(820-822)Gag>Aag	p.E274K	KIF23_ENST00000537891.1_Missense_Mutation_p.E91K|KIF23_ENST00000395392.2_Missense_Mutation_p.E274K|KIF23_ENST00000559279.1_Missense_Mutation_p.E274K|KIF23_ENST00000558585.1_Missense_Mutation_p.E91K|KIF23_ENST00000352331.4_Missense_Mutation_p.E274K	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	274	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GAAATCTACTGAGGAGGCTTT	0.368																																																	0													79.0	81.0	80.0					15																	69718494		2199	4298	6497	SO:0001583	missense	9493			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.820G>A	15.37:g.69718494G>A	ENSP00000260363:p.Glu274Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WVP0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E274K	ENST00000260363.4	37	c.820	CCDS32278.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.272795	0.95429	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.87	5.87	0.94306	Kinesin, motor domain (4);	0.045991	0.85682	D	0.000000	D	0.86615	0.5975	M	0.63843	1.955	0.80722	D	1	D;D;D	0.71674	0.986;0.998;0.997	P;D;D	0.80764	0.833;0.994;0.958	D	0.83526	0.0088	10	0.31617	T	0.26	.	19.1915	0.93669	0.0:0.0:1.0:0.0	.	91;274;274	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	K	274;274;274;91	ENSP00000260363:E274K;ENSP00000304978:E274K;ENSP00000378790:E274K;ENSP00000442969:E91K	ENSP00000260363:E274K	E	+	1	0	KIF23	67505548	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.612000	0.98347	2.779000	0.95612	0.655000	0.94253	GAG	KIF23	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.368	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	HGNC	protein_coding		G			69718494	+1	no_errors	ENST00000260363	ensembl	human	known	70_37	missense	SNP	1.000	A
KIF2C	11004	genome.wustl.edu	37	1	45213065	45213065	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:45213065G>C	ENST00000372224.4	+	3	288	c.175G>C	c.(175-177)Gat>Cat	p.D59H	KIF2C_ENST00000372217.1_Missense_Mutation_p.D5H|KIF2C_ENST00000372218.4_Missense_Mutation_p.D59H|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372222.3_5'UTR	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	59	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GATTGATTTTGATGATGTGGC	0.373																																																	0													117.0	116.0	116.0					1																	45213065		2203	4300	6503	SO:0001583	missense	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.175G>C	1.37:g.45213065G>C	ENSP00000361298:p.Asp59His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D59H	ENST00000372224.4	37	c.175	CCDS512.1	1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.132087	0.77662	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218;ENST00000455186;ENST00000372217	T;T;T;T;T	0.76316	1.08;-0.95;-0.78;0.82;-1.01	6.07	5.15	0.70609	.	0.251014	0.39083	N	0.001476	T	0.80319	0.4601	L	0.46157	1.445	0.80722	D	1	B;P;P	0.49559	0.444;0.925;0.577	B;P;P	0.55999	0.401;0.789;0.687	T	0.81055	-0.1106	10	0.87932	D	0	.	11.3649	0.49666	0.1354:0.0:0.8646:0.0	.	59;5;59	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	H	59;59;59;50;5	ENSP00000410346:D59H;ENSP00000361298:D59H;ENSP00000361292:D59H;ENSP00000395050:D50H;ENSP00000361291:D5H	ENSP00000361291:D5H	D	+	1	0	KIF2C	44985652	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.449000	0.44935	2.884000	0.98904	0.655000	0.94253	GAT	KIF2C	-	NULL		0.373	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2C	HGNC	protein_coding	OTTHUMT00000023180.1	G	NM_006845		45213065	+1	no_errors	ENST00000372224	ensembl	human	known	70_37	missense	SNP	1.000	C
KLHL2	11275	genome.wustl.edu	37	4	166231823	166231823	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:166231823G>A	ENST00000226725.6	+	10	1417	c.1158G>A	c.(1156-1158)atG>atA	p.M386I	KLHL2_ENST00000538127.1_Missense_Mutation_p.M298I|KLHL2_ENST00000514860.1_Missense_Mutation_p.M390I|KLHL2_ENST00000421009.2_Missense_Mutation_p.M289I|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000506761.1_Missense_Mutation_p.M220I	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	386					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TTGCTAACATGAGAGACCGGA	0.448																																																	0													341.0	343.0	342.0					4																	166231823		2203	4300	6503	SO:0001583	missense	11275			AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1158G>A	4.37:g.166231823G>A	ENSP00000226725:p.Met386Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.M386I	ENST00000226725.6	37	c.1158	CCDS34094.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.310993	0.95629	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8	5.6	5.6	0.85130	Galactose oxidase, beta-propeller (1);	0.036599	0.85682	D	0.000000	D	0.93543	0.7939	M	0.92077	3.27	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.999	D;D;D	0.77557	0.99;0.974;0.99	D	0.94580	0.7778	10	0.87932	D	0	.	19.6215	0.95658	0.0:0.0:1.0:0.0	.	390;386;386	B4DFH7;B2RD18;O95198	.;.;KLHL2_HUMAN	I	386;390;298;289;220	ENSP00000226725:M386I;ENSP00000424198:M390I;ENSP00000437526:M298I;ENSP00000408974:M289I;ENSP00000424108:M220I	ENSP00000226725:M386I	M	+	3	0	KLHL2	166451273	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.625000	0.88918	0.650000	0.86243	ATG	KLHL2	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.448	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLHL2	HGNC	protein_coding	OTTHUMT00000364439.1	G			166231823	+1	no_errors	ENST00000226725	ensembl	human	known	70_37	missense	SNP	1.000	A
KRT17P4	339186	genome.wustl.edu	37	17	16748860	16748860	+	RNA	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:16748860C>T	ENST00000578037.1	-	0	593				KRT17P1_ENST00000580363.1_RNA																							CATTGAGGTTCTGCATGGTGG	0.612																																																	0																																												147228																															17.37:g.16748860C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000578037.1	37	NULL		17																																																																																			KRT17P1	-	-		0.612	AC022596.2-005	KNOWN	basic	processed_transcript	KRT17P1	HGNC	pseudogene	OTTHUMT00000444295.1	C			16748860	-1	no_errors	ENST00000577449	ensembl	human	putative	70_37	rna	SNP	1.000	T
KRT15	3866	genome.wustl.edu	37	17	39672427	39672427	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:39672427C>G	ENST00000254043.3	-	4	4414	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	KRT15_ENST00000393976.2_Missense_Mutation_p.E277Q|KRT15_ENST00000393981.3_Missense_Mutation_p.E112Q|KRT15_ENST00000393974.3_Missense_Mutation_p.E112Q	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	277	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCCCTCATCTCTGCCAGCACA	0.622																																																	0													175.0	174.0	175.0					17																	39672427		2203	4300	6503	SO:0001583	missense	3866				CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.829G>C	17.37:g.39672427C>G	ENSP00000254043:p.Glu277Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.E277Q	ENST00000254043.3	37	c.829	CCDS11398.1	17	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268684	0.80469	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99	4.72	4.72	0.59763	Filament (1);	0.128726	0.34828	N	0.003651	D	0.95959	0.8684	M	0.81682	2.555	0.39525	D	0.968573	D;D;D	0.71674	0.99;0.998;0.994	P;D;D	0.72625	0.901;0.978;0.965	D	0.96810	0.9596	10	0.72032	D	0.01	.	17.2015	0.86907	0.0:1.0:0.0:0.0	.	112;277;277	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	Q	277;112;277;112;112	ENSP00000254043:E277Q;ENSP00000377544:E112Q;ENSP00000377546:E277Q;ENSP00000377550:E112Q;ENSP00000409282:E112Q	ENSP00000254043:E277Q	E	-	1	0	KRT15	36925953	0.819000	0.29175	0.950000	0.38849	0.927000	0.56198	3.624000	0.54231	2.589000	0.87451	0.655000	0.94253	GAG	KRT15	-	pfam_F,superfamily_Prefoldin,prints_Keratin_I		0.622	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT15	HGNC	protein_coding	OTTHUMT00000257301.1	C	NM_002275		39672427	-1	no_errors	ENST00000254043	ensembl	human	known	70_37	missense	SNP	0.989	G
LACC1	144811	genome.wustl.edu	37	13	44455648	44455648	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:44455648G>A	ENST00000441843.1	+	2	1012	c.527G>A	c.(526-528)gGa>gAa	p.G176E	CCDC122_ENST00000476570.2_5'Flank|LACC1_ENST00000325686.6_Missense_Mutation_p.G176E|CCDC122_ENST00000444614.3_5'Flank	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	176																	GCACTGAGAGGAAAATTAACT	0.333																																																	0													61.0	66.0	65.0					13																	44455648		2182	4295	6477	SO:0001583	missense	144811			AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"""chromosome 13 open reading frame 31"""	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.527G>A	13.37:g.44455648G>A	ENSP00000391747:p.Gly176Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3Z6|Q8N8X5	Missense_Mutation	SNP	pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat	p.G176E	ENST00000441843.1	37	c.527	CCDS9391.1	13	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781917	0.90282	.	.	ENSG00000179630	ENST00000441843;ENST00000325686	T;T	0.58506	0.33;0.33	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77961	0.4209	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76179	-0.3054	9	.	.	.	-0.0505	19.5705	0.95413	0.0:0.0:1.0:0.0	.	176	Q8IV20	LACC1_HUMAN	E	176	ENSP00000391747:G176E;ENSP00000317619:G176E	.	G	+	2	0	LACC1	43353648	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.548000	0.82154	2.941000	0.99782	0.655000	0.94253	GGA	LACC1	-	superfamily_Cytotoxic_necrot_fac-like_cat		0.333	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LACC1	HGNC	protein_coding	OTTHUMT00000044726.3	G	NM_153218		44455648	+1	no_errors	ENST00000325686	ensembl	human	known	70_37	missense	SNP	1.000	A
LENG8	114823	genome.wustl.edu	37	19	54968077	54968077	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:54968077C>G	ENST00000326764.5	+	11	2187	c.1708C>G	c.(1708-1710)Ccg>Gcg	p.P570A	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	533										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGCCCCCGACCCGTCCACCGT	0.667																																																	0													34.0	31.0	32.0					19																	54968077		2203	4298	6501	SO:0001583	missense	114823			AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1708C>G	19.37:g.54968077C>G	ENSP00000318374:p.Pro570Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.P570A	ENST00000326764.5	37	c.1708	CCDS12894.1	19	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383630	0.82792	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.40476	1.03;1.03;1.03	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.55545	0.1927	L	0.60012	1.86	0.80722	D	1	P;P	0.40931	0.733;0.65	P;P	0.54270	0.747;0.646	T	0.57329	-0.7830	10	0.52906	T	0.07	-32.9077	15.0693	0.72024	0.0:1.0:0.0:0.0	.	570;533	Q96PV6-2;F8W9Q9	.;.	A	570;533;533;570	ENSP00000318374:P570A;ENSP00000365709:P533A;ENSP00000388053:P570A	ENSP00000301196:P533A	P	+	1	0	LENG8	59659889	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.948000	0.63590	2.345000	0.79718	0.561000	0.74099	CCG	LENG8	-	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25		0.667	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG8	HGNC	protein_coding	OTTHUMT00000140523.2	C	NM_052925		54968077	+1	no_errors	ENST00000326764	ensembl	human	known	70_37	missense	SNP	1.000	G
LNX2	222484	genome.wustl.edu	37	13	28122532	28122532	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:28122532C>T	ENST00000316334.3	-	10	2142	c.2013G>A	c.(2011-2013)ttG>ttA	p.L671L		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	671	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		TCTGCTCCTTCAACATGGGAA	0.458																																																	0													100.0	80.0	87.0					13																	28122532		2203	4300	6503	SO:0001819	synonymous_variant	222484			AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.2013G>A	13.37:g.28122532C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5W0P0|Q6ZMH2|Q96SH4	Silent	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.L671	ENST00000316334.3	37	c.2013	CCDS9323.1	13																																																																																			LNX2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.458	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX2	HGNC	protein_coding	OTTHUMT00000044302.2	C			28122532	-1	no_errors	ENST00000316334	ensembl	human	known	70_37	silent	SNP	1.000	T
LOC728554	728554	genome.wustl.edu	37	5	177309503	177309503	+	RNA	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:177309503G>A	ENST00000506672.1	+	0	835					NR_003615.2																						GGATGTGGATGAGTTAGTGTG	0.468																																																	0																																												100128340																															5.37:g.177309503G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000506672.1	37	NULL		5																																																																																			RP11-423H2.1	-	-		0.468	RP11-423H2.1-002	KNOWN	basic	processed_transcript	LOC100128340	Clone_based_vega_gene	pseudogene	OTTHUMT00000373226.1	G			177309503	+1	no_errors	ENST00000358442	ensembl	human	known	70_37	rna	SNP	1.000	A
LOC349160	349160	genome.wustl.edu	37	7	136849075	136849075	+	RNA	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr7:136849075G>C	ENST00000439694.1	-	0	164				hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000599888.2_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000598184.1_RNA																							ACGGGTTCAGGAGGTGCCCAA	0.592																																																	0																																												349160																															7.37:g.136849075G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000439694.1	37	NULL		7																																																																																			AC009264.1	-	-		0.592	hsa-mir-490.1-001	KNOWN	basic	antisense	LOC349160	Clone_based_vega_gene	antisense	OTTHUMT00000341008.1	G			136849075	-1	no_errors	ENST00000425981	ensembl	human	known	70_37	rna	SNP	1.000	C
LOXL3	84695	genome.wustl.edu	37	2	74762422	74762422	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:74762422C>G	ENST00000264094.3	-	9	1647	c.1576G>C	c.(1576-1578)Gag>Cag	p.E526Q	LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000393937.2_Missense_Mutation_p.E381Q|LOXL3_ENST00000409549.1_Missense_Mutation_p.E470Q|LOXL3_ENST00000409986.1_Missense_Mutation_p.E381Q	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	526					epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CACTCACTCTCAGAACAGATG	0.592																																																	0													70.0	56.0	61.0					2																	74762422		2203	4300	6503	SO:0001583	missense	84695			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1576G>C	2.37:g.74762422C>G	ENSP00000264094:p.Glu526Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt	p.E526Q	ENST00000264094.3	37	c.1576	CCDS1953.1	2	.	.	.	.	.	.	.	.	.	.	C	15.12	2.740125	0.49045	.	.	ENSG00000115318	ENST00000264094;ENST00000393937;ENST00000409549;ENST00000409986	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.02	4.14	0.48551	Speract/scavenger receptor-related (1);	0.166079	0.52532	D	0.000068	T	0.33265	0.0857	L	0.39397	1.21	0.45515	D	0.998477	B;B;B;D	0.58268	0.051;0.0;0.019;0.982	B;B;B;P	0.52793	0.03;0.005;0.04;0.709	T	0.03231	-1.1058	10	0.21540	T	0.41	.	11.3652	0.49668	0.0:0.9116:0.0:0.0884	.	381;470;381;526	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	Q	526;381;470;381	ENSP00000264094:E526Q;ENSP00000377512:E381Q;ENSP00000386696:E470Q;ENSP00000386545:E381Q	ENSP00000264094:E526Q	E	-	1	0	LOXL3	74615930	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.733000	0.62036	1.479000	0.48272	0.563000	0.77884	GAG	LOXL3	-	superfamily_Srcr_rcpt-rel		0.592	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL3	HGNC	protein_coding	OTTHUMT00000252215.1	C	NM_032603		74762422	-1	no_errors	ENST00000264094	ensembl	human	known	70_37	missense	SNP	1.000	G
LONRF2	164832	genome.wustl.edu	37	2	100903453	100903453	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:100903453C>T	ENST00000393437.3	-	11	2632	c.1993G>A	c.(1993-1995)Gcg>Acg	p.A665T	LONRF2_ENST00000409647.1_Missense_Mutation_p.A422T	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	665	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TGGAGAGACGCGAACCAGGAA	0.488																																																	0													124.0	103.0	110.0					2																	100903453		2203	4300	6503	SO:0001583	missense	164832			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1993G>A	2.37:g.100903453C>T	ENSP00000377086:p.Ala665Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B9A006|Q6ZSR4	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.A665T	ENST00000393437.3	37	c.1993	CCDS2046.2	2	.	.	.	.	.	.	.	.	.	.	C	9.272	1.045986	0.19748	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	T;T	0.42131	0.98;0.98	4.95	-2.39	0.06602	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.358147	0.30901	N	0.008647	T	0.08223	0.0205	N	0.00436	-1.5	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.36672	-0.9738	10	0.10377	T	0.69	-0.2116	4.5696	0.12203	0.2661:0.1456:0.0:0.5883	.	665	Q1L5Z9	LONF2_HUMAN	T	665;422	ENSP00000377086:A665T;ENSP00000386823:A422T	ENSP00000377086:A665T	A	-	1	0	LONRF2	100269885	1.000000	0.71417	0.001000	0.08648	0.817000	0.46193	2.209000	0.42806	-0.335000	0.08451	0.655000	0.94253	GCG	LONRF2	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N		0.488	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF2	HGNC	protein_coding	OTTHUMT00000253161.2	C	NM_198461		100903453	-1	no_errors	ENST00000393437	ensembl	human	known	70_37	missense	SNP	0.123	T
LRP1B	53353	genome.wustl.edu	37	2	141243034	141243034	+	Silent	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:141243034G>C	ENST00000389484.3	-	59	10274	c.9303C>G	c.(9301-9303)ctC>ctG	p.L3101L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3101					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGACCAATAGAGGTTTTTTC	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													137.0	129.0	132.0					2																	141243034		2203	4300	6503	SO:0001819	synonymous_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9303C>G	2.37:g.141243034G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L3101	ENST00000389484.3	37	c.9303	CCDS2182.1	2																																																																																			LRP1B	-	superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	G	NM_018557		141243034	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	silent	SNP	0.994	C
LRP6	4040	genome.wustl.edu	37	12	12291357	12291358	+	Frame_Shift_Ins	INS	-	-	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:12291357_12291358insT	ENST00000261349.4	-	16	3584_3585	c.3508_3509insA	c.(3508-3510)attfs	p.I1170fs	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.I1170fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1170	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|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)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TGTCATGTCAATTTTTTCAATC	0.411																																																	0																																										SO:0001589	frameshift_variant	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3509dupA	12.37:g.12291363_12291363dupT	ENSP00000261349:p.Ile1170fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RZ2	Frame_Shift_Ins	INS	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.I1170fs	ENST00000261349.4	37	c.3509_3508	CCDS8647.1	12																																																																																			LRP6	-	smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.411	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	-			12291358	-1	no_errors	ENST00000261349	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T
LRP6	4040	genome.wustl.edu	37	12	12291364	12291364	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:12291364C>G	ENST00000261349.4	-	16	3578	c.3502G>C	c.(3502-3504)Gaa>Caa	p.E1168Q	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.E1168Q	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1168	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|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)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCAATTTTTTCAATCATTTGC	0.418																																																	0													255.0	228.0	237.0					12																	12291364		2203	4300	6503	SO:0001583	missense	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3502G>C	12.37:g.12291364C>G	ENSP00000261349:p.Glu1168Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RZ2	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.E1168Q	ENST00000261349.4	37	c.3502	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.145761	0.94603	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.90844	-2.74;-2.74	5.74	5.74	0.90152	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000007	D	0.94873	0.8343	M	0.70903	2.155	0.80722	D	1	D;P	0.76494	0.999;0.861	D;B	0.78314	0.991;0.344	D	0.92860	0.6305	10	0.29301	T	0.29	.	19.9135	0.97033	0.0:1.0:0.0:0.0	.	1168;1168	F5H7J9;O75581	.;LRP6_HUMAN	Q	1168	ENSP00000261349:E1168Q;ENSP00000442472:E1168Q	ENSP00000261349:E1168Q	E	-	1	0	LRP6	12182631	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.770000	0.68873	2.711000	0.92665	0.591000	0.81541	GAA	LRP6	-	smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.418	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	C			12291364	-1	no_errors	ENST00000261349	ensembl	human	known	70_37	missense	SNP	1.000	G
LRP6	4040	genome.wustl.edu	37	12	12291406	12291406	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:12291406C>G	ENST00000261349.4	-	16	3536	c.3460G>C	c.(3460-3462)Gaa>Caa	p.E1154Q	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.E1154Q	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1154	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|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)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AGCCAGTTTTCAAACACAGTA	0.408																																																	0													188.0	176.0	180.0					12																	12291406		2203	4300	6503	SO:0001583	missense	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3460G>C	12.37:g.12291406C>G	ENSP00000261349:p.Glu1154Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RZ2	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.E1154Q	ENST00000261349.4	37	c.3460	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855761	0.71834	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91792	-2.91;-2.91	5.74	5.74	0.90152	Six-bladed beta-propeller, TolB-like (1);	0.098563	0.43919	D	0.000506	D	0.92080	0.7490	M	0.76938	2.355	0.52099	D	0.999942	B;B	0.32862	0.321;0.387	B;B	0.29077	0.073;0.098	D	0.90735	0.4645	10	0.46703	T	0.11	.	19.9135	0.97033	0.0:1.0:0.0:0.0	.	1154;1154	F5H7J9;O75581	.;LRP6_HUMAN	Q	1154	ENSP00000261349:E1154Q;ENSP00000442472:E1154Q	ENSP00000261349:E1154Q	E	-	1	0	LRP6	12182673	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.775000	0.68915	2.711000	0.92665	0.591000	0.81541	GAA	LRP6	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDLR_classB_rpt		0.408	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	C			12291406	-1	no_errors	ENST00000261349	ensembl	human	known	70_37	missense	SNP	1.000	G
LRRC47	57470	genome.wustl.edu	37	1	3703465	3703465	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:3703465C>T	ENST00000378251.1	-	2	1052	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	342							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GTCCATGCCTCGCACCACGGC	0.637																																																	0													25.0	26.0	26.0					1																	3703465		2199	4295	6494	SO:0001583	missense	57470			AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1025G>A	1.37:g.3703465C>T	ENSP00000367498:p.Arg342Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULN5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd	p.R342Q	ENST00000378251.1	37	c.1025	CCDS51.1	1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593497	0.46214	.	.	ENSG00000130764	ENST00000378251	T	0.55588	0.51	5.22	2.96	0.34315	B3/B4 tRNA-binding domain (1);	0.197467	0.52532	D	0.000078	T	0.61899	0.2384	H	0.94771	3.58	0.09310	N	1	D	0.53151	0.958	P	0.44447	0.45	T	0.63756	-0.6565	10	0.87932	D	0	-11.5632	6.2732	0.20966	0.1599:0.6444:0.0:0.1957	.	342	Q8N1G4	LRC47_HUMAN	Q	342	ENSP00000367498:R342Q	ENSP00000367498:R342Q	R	-	2	0	LRRC47	3693325	0.813000	0.29090	0.039000	0.18376	0.441000	0.31987	1.418000	0.34782	1.196000	0.43129	0.650000	0.86243	CGA	LRRC47	-	smart_B3/B4_tRNA-bd		0.637	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC47	HGNC	protein_coding	OTTHUMT00000009744.1	C	NM_020710		3703465	-1	no_errors	ENST00000378251	ensembl	human	known	70_37	missense	SNP	0.025	T
LRRK1	79705	genome.wustl.edu	37	15	101561369	101561369	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:101561369C>T	ENST00000388948.3	+	13	2080	c.1721C>T	c.(1720-1722)tCa>tTa	p.S574L	LRRK1_ENST00000284395.5_Missense_Mutation_p.S571L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAGAGCTTATCAGAGCTCTAC	0.542																																																	0													67.0	65.0	66.0					15																	101561369		1912	4114	6026	SO:0001583	missense	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1721C>T	15.37:g.101561369C>T	ENSP00000373600:p.Ser574Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.S574L	ENST00000388948.3	37	c.1721	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184689	0.38609	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.24538	1.85;1.85	5.77	5.77	0.91146	.	0.374780	0.24200	N	0.040631	T	0.20901	0.0503	N	0.16307	0.4	0.32688	N	0.514609	B	0.15473	0.013	B	0.15870	0.014	T	0.13335	-1.0513	10	0.66056	D	0.02	.	18.9765	0.92738	0.0:1.0:0.0:0.0	.	574	Q38SD2	LRRK1_HUMAN	L	574;571	ENSP00000373600:S574L;ENSP00000284395:S571L	ENSP00000284395:S571L	S	+	2	0	LRRK1	99378892	0.711000	0.27906	0.507000	0.27676	0.472000	0.32918	2.536000	0.45693	2.722000	0.93159	0.555000	0.69702	TCA	LRRK1	-	smart_Leu-rich_rpt_typical-subtyp		0.542	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	C	NM_024652		101561369	+1	no_errors	ENST00000388948	ensembl	human	known	70_37	missense	SNP	0.659	T
LRRK1	79705	genome.wustl.edu	37	15	101598292	101598292	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:101598292C>G	ENST00000388948.3	+	29	4984	c.4625C>G	c.(4624-4626)tCa>tGa	p.S1542*	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Nonsense_Mutation_p.S1539*	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCTTCTTCTCATCCCAGGGC	0.582																																																	0													74.0	74.0	74.0					15																	101598292		1971	4153	6124	SO:0001587	stop_gained	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4625C>G	15.37:g.101598292C>G	ENSP00000373600:p.Ser1542*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.S1542*	ENST00000388948.3	37	c.4625	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081130	0.55753	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	.	.	.	4.57	4.57	0.56435	.	0.307278	0.29185	N	0.012897	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	14.5088	0.67769	0.0:0.8418:0.1582:0.0	.	.	.	.	X	1542;1539;233;96	.	ENSP00000284395:S1539X	S	+	2	0	LRRK1	99415815	1.000000	0.71417	0.930000	0.37139	0.083000	0.17756	4.119000	0.57891	2.261000	0.74972	0.561000	0.74099	TCA	LRRK1	-	NULL		0.582	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	C	NM_024652		101598292	+1	no_errors	ENST00000388948	ensembl	human	known	70_37	nonsense	SNP	0.954	G
LRRN1	57633	genome.wustl.edu	37	3	3886968	3886968	+	Missense_Mutation	SNP	G	G	A	rs547803135		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:3886968G>A	ENST00000319331.3	+	2	1404	c.643G>A	c.(643-645)Gca>Aca	p.A215T	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	215						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CAAACCCCTCGCAAATTTGAG	0.418																																																	0													130.0	139.0	136.0					3																	3886968		2203	4300	6503	SO:0001583	missense	57633			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.643G>A	3.37:g.3886968G>A	ENSP00000314901:p.Ala215Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A215T	ENST00000319331.3	37	c.643	CCDS33685.1	3	.	.	.	.	.	.	.	.	.	.	G	0.361	-0.939127	0.02322	.	.	ENSG00000175928	ENST00000319331	T	0.22134	1.97	5.57	1.82	0.25136	.	0.649340	0.15882	N	0.240007	T	0.08223	0.0205	N	0.04132	-0.27	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40720	-0.9548	10	0.11794	T	0.64	.	8.7243	0.34460	0.1199:0.0:0.4008:0.4793	.	215	Q6UXK5	LRRN1_HUMAN	T	215	ENSP00000314901:A215T	ENSP00000314901:A215T	A	+	1	0	LRRN1	3861968	0.051000	0.20477	0.005000	0.12908	0.189000	0.23516	1.456000	0.35201	0.062000	0.16340	-1.083000	0.02208	GCA	LRRN1	-	smart_Leu-rich_rpt_typical-subtyp		0.418	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN1	HGNC	protein_coding	OTTHUMT00000337704.2	G	NM_020873		3886968	+1	no_errors	ENST00000319331	ensembl	human	known	70_37	missense	SNP	0.001	A
LY96	23643	genome.wustl.edu	37	8	74939055	74939055	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr8:74939055C>A	ENST00000284818.2	+	4	454	c.363C>A	c.(361-363)ttC>ttA	p.F121L	LY96_ENST00000518893.1_Missense_Mutation_p.F91L	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	121	Interaction with lipopolysaccharide.				cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|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 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)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			CATTCTCCTTCAAGGGAATAA	0.303																																					GBM(131;1357 1748 34893 50149 52212)												0													83.0	80.0	81.0					8																	74939055		2203	4298	6501	SO:0001583	missense	23643			AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.363C>A	8.37:g.74939055C>A	ENSP00000284818:p.Phe121Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3Y6A5|E5RJJ7	Missense_Mutation	SNP	pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog	p.F121L	ENST00000284818.2	37	c.363	CCDS6216.1	8	.	.	.	.	.	.	.	.	.	.	C	8.138	0.784555	0.16189	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.71579	-0.58;-0.58	3.64	1.85	0.25348	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	0.604873	0.15881	N	0.240052	T	0.68869	0.3048	M	0.76838	2.35	0.24198	N	0.995522	D	0.57899	0.981	P	0.48770	0.589	T	0.58730	-0.7585	10	0.10902	T	0.67	-11.9778	5.9752	0.19375	0.0:0.7633:0.0:0.2367	.	121	Q9Y6Y9	LY96_HUMAN	L	121;91	ENSP00000284818:F121L;ENSP00000430533:F91L	ENSP00000284818:F121L	F	+	3	2	LY96	75101609	0.708000	0.27876	0.505000	0.27651	0.002000	0.02628	1.650000	0.37292	0.537000	0.28751	-0.136000	0.14681	TTC	LY96	-	pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog		0.303	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY96	HGNC	protein_coding	OTTHUMT00000379032.2	C	NM_015364		74939055	+1	no_errors	ENST00000284818	ensembl	human	known	70_37	missense	SNP	0.589	A
MADD	8567	genome.wustl.edu	37	11	47296120	47296120	+	Silent	SNP	G	G	A	rs200598460		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:47296120G>A	ENST00000311027.5	+	3	234	c.69G>A	c.(67-69)ccG>ccA	p.P23P	MADD_ENST00000407859.3_Silent_p.P23P|MADD_ENST00000349238.3_Silent_p.P23P|MADD_ENST00000395336.3_Silent_p.P23P|MADD_ENST00000395344.3_Silent_p.P23P|MADD_ENST00000402192.2_Silent_p.P23P|MADD_ENST00000402799.1_Silent_p.P23P|MADD_ENST00000342922.4_Silent_p.P23P|RP11-17G12.3_ENST00000545474.1_RNA|MADD_ENST00000406482.1_Silent_p.P23P|RP11-17G12.3_ENST00000543925.1_RNA	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TCAGGCACCCGAGCAGTGATA	0.483																																																	0													123.0	124.0	124.0					11																	47296120		2201	4298	6499	SO:0001819	synonymous_variant	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.69G>A	11.37:g.47296120G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	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.P23	ENST00000311027.5	37	c.69	CCDS7930.1	11																																																																																			MADD	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom		0.483	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	G			47296120	+1	no_errors	ENST00000311027	ensembl	human	known	70_37	silent	SNP	0.991	A
MAML3	55534	genome.wustl.edu	37	4	140640513	140640513	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:140640513C>G	ENST00000509479.2	-	5	4237	c.3381G>C	c.(3379-3381)tgG>tgC	p.W1127C	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GCTCCTGCATCCACTCGTCCC	0.527																																																	0													49.0	52.0	51.0					4																	140640513		1991	4165	6156	SO:0001583	missense	55534			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.3381G>C	4.37:g.140640513C>G	ENSP00000421180:p.Trp1127Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.W1127C	ENST00000509479.2	37	c.3381	CCDS54805.1	4	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089117	0.55968	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.78924	-1.22	4.99	4.13	0.48395	.	0.103312	0.44902	D	0.000408	D	0.88145	0.6358	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.89943	0.4074	10	0.87932	D	0	.	15.5076	0.75753	0.0:0.8608:0.1392:0.0	.	1127;1123	E7EVW8;Q96JK9	.;MAML3_HUMAN	C	1127;434	ENSP00000421180:W1127C	ENSP00000421180:W1127C	W	-	3	0	MAML3	140859963	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.770000	0.68873	1.185000	0.42971	0.591000	0.81541	TGG	MAML3	-	NULL		0.527	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	C			140640513	-1	no_errors	ENST00000509479	ensembl	human	known	70_37	missense	SNP	1.000	G
MAPK7	5598	genome.wustl.edu	37	17	19284297	19284297	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:19284297C>T	ENST00000308406.5	+	4	1161	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	MAPK7_ENST00000571657.1_Intron|B9D1_ENST00000477478.2_5'Flank|B9D1_ENST00000575403.1_5'Flank|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395602.4_Missense_Mutation_p.R259C|MAPK7_ENST00000299612.7_Missense_Mutation_p.R120C|MAPK7_ENST00000395604.3_Missense_Mutation_p.R259C	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	259	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|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 cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|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)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GCTGGCCCGGCGCCAGCTCTT	0.567																																																	0													36.0	37.0	37.0					17																	19284297		2203	4300	6503	SO:0001583	missense	5598			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.775C>T	17.37:g.19284297C>T	ENSP00000311005:p.Arg259Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R259C	ENST00000308406.5	37	c.775	CCDS11206.1	17	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611533	0.66558	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	4.74	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.111501	0.64402	D	0.000019	T	0.79058	0.4382	M	0.79614	2.46	0.58432	D	0.999999	D	0.89917	1.0	D	0.65773	0.938	T	0.81491	-0.0909	10	0.87932	D	0	-15.6432	10.8063	0.46520	0.189:0.8109:0.0:0.0	.	259	Q13164	MK07_HUMAN	C	259;120;259;259	ENSP00000311005:R259C;ENSP00000299612:R120C;ENSP00000378968:R259C;ENSP00000378966:R259C	ENSP00000299612:R120C	R	+	1	0	MAPK7	19224890	0.977000	0.34250	1.000000	0.80357	0.964000	0.63967	2.479000	0.45197	2.335000	0.79485	0.561000	0.74099	CGC	MAPK7	-	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		0.567	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK7	HGNC	protein_coding	OTTHUMT00000132506.1	C	NM_139033		19284297	+1	no_errors	ENST00000308406	ensembl	human	known	70_37	missense	SNP	1.000	T
MGAT4C	25834	genome.wustl.edu	37	12	86373204	86373204	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:86373204C>T	ENST00000604798.1	-	8	2504	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	MGAT4C_ENST00000548651.1_Missense_Mutation_p.E434K|MGAT4C_ENST00000393205.2_Missense_Mutation_p.E463K|MGAT4C_ENST00000549405.2_Missense_Mutation_p.E434K|MGAT4C_ENST00000552808.2_Missense_Mutation_p.E434K|MGAT4C_ENST00000332156.1_Missense_Mutation_p.E434K			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	434					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.E434K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTTTTGAATTCTCCTAGTCTT	0.343																																																	1	Substitution - Missense(1)	skin(1)											76.0	76.0	76.0					12																	86373204		2203	4299	6502	SO:0001583	missense	25834				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.1300G>A	12.37:g.86373204C>T	ENSP00000474896:p.Glu434Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	pfam_Glyco_transf_54,superfamily_LSM_dom	p.E463K	ENST00000604798.1	37	c.1387	CCDS9030.1	12	.	.	.	.	.	.	.	.	.	.	C	10.94	1.494119	0.26774	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651	T;T;T;T;T	0.29142	1.6;1.58;1.6;1.6;1.6	5.76	5.76	0.90799	.	0.171785	0.49916	D	0.000132	T	0.31104	0.0786	L	0.57536	1.79	0.58432	D	0.999998	B;B	0.27450	0.179;0.179	B;B	0.24974	0.057;0.052	T	0.21348	-1.0248	10	0.06494	T	0.89	-0.5764	19.9607	0.97248	0.0:1.0:0.0:0.0	.	463;434	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	K	434;463;434;434;434;434	ENSP00000331664:E434K;ENSP00000376900:E463K;ENSP00000449022:E434K;ENSP00000446647:E434K;ENSP00000447253:E434K	ENSP00000331664:E434K	E	-	1	0	MGAT4C	84897335	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.814000	0.86154	2.713000	0.92767	0.585000	0.79938	GAA	MGAT4C	-	NULL		0.343	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT4C	HGNC	protein_coding	OTTHUMT00000406212.2	C	NM_013244		86373204	-1	no_errors	ENST00000393205	ensembl	human	known	70_37	missense	SNP	1.000	T
MGAT4C	25834	genome.wustl.edu	37	12	86373637	86373637	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:86373637C>A	ENST00000604798.1	-	8	2071	c.867G>T	c.(865-867)ttG>ttT	p.L289F	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000548651.1_Missense_Mutation_p.L289F|MGAT4C_ENST00000393205.2_Missense_Mutation_p.L318F|MGAT4C_ENST00000549405.2_Missense_Mutation_p.L289F|MGAT4C_ENST00000552808.2_Missense_Mutation_p.L289F|MGAT4C_ENST00000332156.1_Missense_Mutation_p.L289F			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	289					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GGAAATGAGTCAATAGCCAAT	0.393																																																	0													72.0	71.0	71.0					12																	86373637		2203	4300	6503	SO:0001583	missense	25834				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.867G>T	12.37:g.86373637C>A	ENSP00000474896:p.Leu289Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	pfam_Glyco_transf_54,superfamily_LSM_dom	p.L318F	ENST00000604798.1	37	c.954	CCDS9030.1	12	.	.	.	.	.	.	.	.	.	.	C	6.399	0.441822	0.12164	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24	5.75	2.95	0.34219	.	0.079191	0.49305	D	0.000143	T	0.68329	0.2989	M	0.73753	2.245	0.46874	D	0.999231	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.64976	-0.6280	10	0.49607	T	0.09	-4.0228	2.6942	0.05129	0.1163:0.4644:0.2259:0.1934	.	318;289	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	F	289;318;289;289;289;289;289	ENSP00000331664:L289F;ENSP00000376900:L318F;ENSP00000449022:L289F;ENSP00000446647:L289F;ENSP00000447253:L289F;ENSP00000449172:L289F	ENSP00000331664:L289F	L	-	3	2	MGAT4C	84897768	0.703000	0.27826	0.436000	0.26797	0.002000	0.02628	-0.215000	0.09279	0.362000	0.24319	-0.171000	0.13296	TTG	MGAT4C	-	pfam_Glyco_transf_54		0.393	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT4C	HGNC	protein_coding	OTTHUMT00000406212.2	C	NM_013244		86373637	-1	no_errors	ENST00000393205	ensembl	human	known	70_37	missense	SNP	0.971	A
MRPL1	65008	genome.wustl.edu	37	4	78783989	78783989	+	5'UTR	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:78783989C>T	ENST00000315567.8	+	0	316					NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1						translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TGAACGCAATCCGGAGTGCCC	0.502																																																	0													114.0	123.0	120.0					4																	78783989		1922	4124	6046	SO:0001623	5_prime_UTR_variant	65008			AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"""Mitochondrial ribosomal proteins / large subunits"""	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.-14C>T	4.37:g.78783989C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	RNA	SNP	-	NULL	ENST00000315567.8	37	NULL	CCDS3583.2	4																																																																																			MRPL1	-	-		0.502	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL1	HGNC	protein_coding	OTTHUMT00000252518.3	C	NM_020236		78783989	+1	no_errors	ENST00000515625	ensembl	human	known	70_37	rna	SNP	0.999	T
MRPL27	51264	genome.wustl.edu	37	17	48447381	48447381	+	Intron	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:48447381G>A	ENST00000225969.4	-	3	284				MRPL27_ENST00000442592.3_Silent_p.S84S|MRPL27_ENST00000507088.1_Intron|MRPL27_ENST00000511860.1_Intron|MRPL27_ENST00000503633.1_Intron	NM_016504.2	NP_057588.1	Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27						translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			GGGCAGCAACGGAGCAACTCA	0.498																																																	0													107.0	105.0	106.0					17																	48447381		2203	4300	6503	SO:0001627	intron_variant	51264			AB049647	CCDS11564.1	17q21.3-q22	2012-09-13			ENSG00000108826	ENSG00000108826		"""Mitochondrial ribosomal proteins / large subunits"""	14483	protein-coding gene	gene with protein product		611837					Standard	NM_016504		Approved		uc002iqq.3	Q9P0M9	OTTHUMG00000162062	ENST00000225969.4:c.240+11C>T	17.37:g.48447381G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE14	Silent	SNP	pfam_Ribosomal_L27,superfamily_Ribosomal_L27,prints_Ribosomal_L27	p.S84	ENST00000225969.4	37	c.252	CCDS11564.1	17																																																																																			MRPL27	-	pfam_Ribosomal_L27,superfamily_Ribosomal_L27		0.498	MRPL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL27	HGNC	protein_coding	OTTHUMT00000367057.1	G			48447381	-1	no_errors	ENST00000442592	ensembl	human	putative	70_37	silent	SNP	0.000	A
MRVI1	10335	genome.wustl.edu	37	11	10602102	10602102	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:10602102G>C	ENST00000436272.1	-	19	2392	c.2314C>G	c.(2314-2316)Caa>Gaa	p.Q772E	MRVI1_ENST00000547195.1_Missense_Mutation_p.Q708E|MRVI1_ENST00000541483.1_Missense_Mutation_p.Q593E|MRVI1_ENST00000552103.1_Missense_Mutation_p.Q708E|MRVI1_ENST00000531107.1_Missense_Mutation_p.Q791E|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000424001.1_Missense_Mutation_p.Q484E|MRVI1_ENST00000558540.1_Missense_Mutation_p.Q484E|MRVI1_ENST00000534266.2_Missense_Mutation_p.Q484E|MRVI1_ENST00000527509.2_Missense_Mutation_p.Q708E|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000423302.2_Missense_Mutation_p.Q799E|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000545852.1_Missense_Mutation_p.Q484E|MRVI1_ENST00000421747.1_Missense_Mutation_p.Q790E			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	772	Glu-rich.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCAGGTCTTGAAGTTCTTTG	0.488																																																	0													133.0	132.0	132.0					11																	10602102		1863	4119	5982	SO:0001583	missense	10335			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.2314C>G	11.37:g.10602102G>C	ENSP00000412229:p.Gln772Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	pfam_MRVI1	p.Q790E	ENST00000436272.1	37	c.2368		11	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171503	0.38315	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44	5.33	5.33	0.75918	.	0.069915	0.64402	D	0.000018	T	0.13286	0.0322	L	0.54323	1.7	0.39029	D	0.959896	B;B;B;B	0.22003	0.063;0.003;0.006;0.005	B;B;B;B	0.14578	0.01;0.008;0.011;0.007	T	0.07673	-1.0760	10	0.02654	T	1	-9.7261	9.0329	0.36269	0.0787:0.1496:0.7716:0.0	.	593;772;791;790	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	E	790;773;772;708;708;484;484;799;593;791;708	ENSP00000414598:Q790E;ENSP00000412229:Q772E;ENSP00000448278:Q708E;ENSP00000446764:Q708E;ENSP00000441971:Q484E;ENSP00000401205:Q484E;ENSP00000412130:Q799E;ENSP00000437784:Q593E;ENSP00000432436:Q791E;ENSP00000432067:Q708E	ENSP00000307885:Q773E	Q	-	1	0	MRVI1	10558678	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.738000	0.47401	2.634000	0.89283	0.650000	0.86243	CAA	MRVI1	-	pfam_MRVI1		0.488	MRVI1-203	KNOWN	basic	protein_coding	MRVI1	HGNC	protein_coding		G	NM_001098579		10602102	-1	no_errors	ENST00000421747	ensembl	human	known	70_37	missense	SNP	1.000	C
MS4A3	932	genome.wustl.edu	37	11	59828641	59828641	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:59828641C>T	ENST00000278865.3	+	2	81	c.8C>T	c.(7-9)tCc>tTc	p.S3F	MS4A3_ENST00000358152.2_Missense_Mutation_p.S3F|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Missense_Mutation_p.S3F	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	3						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CCAATGGCCTCCCACGAAGTT	0.488																																																	0													77.0	77.0	77.0					11																	59828641		2201	4295	6496	SO:0001583	missense	932			L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.8C>T	11.37:g.59828641C>T	ENSP00000278865:p.Ser3Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTP8|Q8NHW2	Missense_Mutation	SNP	pfam_CD20-like	p.S3F	ENST00000278865.3	37	c.8	CCDS31567.1	11	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818628	0.50633	.	.	ENSG00000149516	ENST00000358152;ENST00000278865;ENST00000534744	T;T;T	0.40476	1.03;2.9;1.03	4.21	3.21	0.36854	.	2.789120	0.01134	N	0.006051	T	0.52853	0.1760	N	0.24115	0.695	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.97	T	0.52170	-0.8611	10	0.72032	D	0.01	-16.3825	8.6778	0.34189	0.2274:0.7726:0.0:0.0	.	3;3	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	F	3	ENSP00000350872:S3F;ENSP00000278865:S3F;ENSP00000434117:S3F	ENSP00000278865:S3F	S	+	2	0	MS4A3	59585217	0.055000	0.20627	0.773000	0.31616	0.011000	0.07611	0.783000	0.26802	2.306000	0.77630	0.563000	0.77884	TCC	MS4A3	-	NULL		0.488	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A3	HGNC	protein_coding	OTTHUMT00000394417.1	C			59828641	+1	no_errors	ENST00000278865	ensembl	human	known	70_37	missense	SNP	0.144	T
MSMO1	6307	genome.wustl.edu	37	4	166254663	166254663	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:166254663C>G	ENST00000261507.6	+	2	314	c.141C>G	c.(139-141)ttC>ttG	p.F47L	MSMO1_ENST00000393766.2_Intron|MSMO1_ENST00000504317.1_Missense_Mutation_p.F47L	NM_006745.4	NP_006736.1	Q15800	MSMO1_HUMAN	methylsterol monooxygenase 1	47					cholesterol biosynthetic process (GO:0006695)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-4 methylsterol oxidase activity (GO:0000254)|iron ion binding (GO:0005506)										ATACAAAGTTCCAGATTGCAA	0.318																																																	0													91.0	95.0	94.0					4																	166254663		2203	4300	6503	SO:0001583	missense	6307			U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	1.14.13.72	"""Fatty acid hydroxylase domain containing"""	10545	protein-coding gene	gene with protein product		607545	"""sterol-C4-methyl oxidase-like"""	SC4MOL		8663358	Standard	NM_006745		Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.141C>G	4.37:g.166254663C>G	ENSP00000261507:p.Phe47Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8Q3|A8MYF6|D3DP32|Q32Q24	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase	p.F47L	ENST00000261507.6	37	c.141	CCDS3809.1	4	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633697	0.47049	.	.	ENSG00000052802	ENST00000261507;ENST00000507013;ENST00000504317;ENST00000505270	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.58	2.51	0.30379	.	0.000000	0.85682	D	0.000000	T	0.44477	0.1295	M	0.65677	2.01	0.80722	D	1	B;B	0.18461	0.006;0.028	B;B	0.17979	0.011;0.02	T	0.23440	-1.0188	10	0.12430	T	0.62	-25.4972	8.6282	0.33904	0.0:0.6366:0.0:0.3634	.	47;47	D6R952;Q15800	.;MSMO1_HUMAN	L	47	ENSP00000261507:F47L;ENSP00000425241:F47L;ENSP00000423633:F47L;ENSP00000425112:F47L	ENSP00000261507:F47L	F	+	3	2	SC4MOL	166474113	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.908000	0.39907	0.731000	0.32448	0.561000	0.74099	TTC	MSMO1	-	NULL		0.318	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSMO1	HGNC	protein_coding	OTTHUMT00000363880.1	C	NM_006745		166254663	+1	no_errors	ENST00000261507	ensembl	human	known	70_37	missense	SNP	1.000	G
MTMR8	55613	genome.wustl.edu	37	X	63564952	63564952	+	Missense_Mutation	SNP	G	G	A	rs200859818		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:63564952G>A	ENST00000374852.3	-	7	905	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Missense_Mutation_p.R280W	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	280	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGACTGCTCCGCATTACATGG	0.488													G|||	1	0.000264901	0.0	0.0	3775	,	,		15706	0.0		0.0	False		,,,				2504	0.001																1	Whole gene deletion(1)	ovary(1)											201.0	151.0	168.0					X																	63564952		2203	4300	6503	SO:0001583	missense	55613			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.838C>T	X.37:g.63564952G>A	ENSP00000363985:p.Arg280Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JT99|Q9NXP6	Missense_Mutation	SNP	pfam_Myotub-related,smart_Tyr_Pase_cat	p.R280W	ENST00000374852.3	37	c.838	CCDS14379.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.10|15.10	2.732704|2.732704	0.48939|0.48939	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000442913|ENST00000453546;ENST00000374852;ENST00000247400	.|D;D	.|0.94457	.|-3.43;-3.43	3.23|3.23	0.221|0.221	0.15283|0.15283	.|Myotubularin phosphatase domain (1);	.|0.000000	.|0.43579	.|U	.|0.000542	D|D	0.97816|0.97816	0.9283|0.9283	H|H	0.98446|0.98446	4.235|4.235	0.50467|0.50467	D|D	0.999879|0.999879	.|B;D	.|0.89917	.|0.067;1.0	.|B;D	.|0.97110	.|0.006;1.0	D|D	0.95401|0.95401	0.8490|0.8490	5|10	.|0.87932	.|D	.|0	.|.	7.2183|7.2183	0.25971|0.25971	0.3552:0.0:0.6448:0.0|0.3552:0.0:0.6448:0.0	.|.	.|280;280	.|B4DQL0;Q96EF0	.|.;MTMR8_HUMAN	V|W	83|280;280;166	.|ENSP00000394003:R280W;ENSP00000363985:R280W	.|ENSP00000247400:R166W	A|R	-|-	2|1	0|2	MTMR8|MTMR8	63481677|63481677	0.077000|0.077000	0.21312|0.21312	0.351000|0.351000	0.25721|0.25721	0.767000|0.767000	0.43475|0.43475	-0.180000|-0.180000	0.09754|0.09754	-0.204000|-0.204000	0.10235|0.10235	0.513000|0.513000	0.50165|0.50165	GCG|CGG	MTMR8	-	smart_Tyr_Pase_cat		0.488	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR8	HGNC	protein_coding	OTTHUMT00000056949.2	G	NM_017677		63564952	-1	no_errors	ENST00000374852	ensembl	human	known	70_37	missense	SNP	0.997	A
MTRF1	9617	genome.wustl.edu	37	13	41814474	41814474	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:41814474C>T	ENST00000379480.4	-	6	893	c.793G>A	c.(793-795)Gag>Aag	p.E265K	MTRF1_ENST00000379477.1_Missense_Mutation_p.E265K|MTRF1_ENST00000430347.2_Missense_Mutation_p.E278K	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	265					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)	p.E265K(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		AGGCCCACCTCGGGGATGCGC	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)											125.0	108.0	114.0					13																	41814474		2203	4300	6503	SO:0001583	missense	9617			AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"""mitochontrial peptide chain release factor 1"""	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.793G>A	13.37:g.41814474C>T	ENSP00000368793:p.Glu265Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DG01|Q5T6Y5|Q8IUQ6	Missense_Mutation	SNP	pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF	p.E278K	ENST00000379480.4	37	c.832	CCDS9378.1	13	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415463	0.83449	.	.	ENSG00000120662	ENST00000379480;ENST00000379477;ENST00000430347	T;T;T	0.11495	2.77;2.77;2.77	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.12603	0.0306	N	0.12831	0.26	0.80722	D	1	D;D	0.62365	0.991;0.983	P;P	0.49953	0.627;0.532	T	0.07790	-1.0754	10	0.49607	T	0.09	-20.7415	19.9371	0.97144	0.0:1.0:0.0:0.0	.	278;265	B4DG01;O75570	.;RF1M_HUMAN	K	265;265;278	ENSP00000368793:E265K;ENSP00000368790:E265K;ENSP00000400031:E278K	ENSP00000368790:E265K	E	-	1	0	MTRF1	40712474	1.000000	0.71417	0.993000	0.49108	0.747000	0.42532	5.833000	0.69349	2.718000	0.92993	0.491000	0.48974	GAG	MTRF1	-	NULL		0.552	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MTRF1	HGNC	protein_coding	OTTHUMT00000044666.3	C	NM_004294		41814474	-1	no_errors	ENST00000430347	ensembl	human	known	70_37	missense	SNP	0.999	T
MUC16	94025	genome.wustl.edu	37	19	9060718	9060718	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:9060718G>A	ENST00000397910.4	-	3	26931	c.26728C>T	c.(26728-26730)Ccc>Tcc	p.P8910S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8912	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCATACTGGGAGGTGAAGTG	0.488																																																	0													163.0	156.0	158.0					19																	9060718		2027	4199	6226	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26728C>T	19.37:g.9060718G>A	ENSP00000381008:p.Pro8910Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.P8910S	ENST00000397910.4	37	c.26728	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	-	5.211	0.224404	0.09863	.	.	ENSG00000181143	ENST00000397910	T	0.24350	1.86	2.15	-4.3	0.03710	.	.	.	.	.	T	0.12518	0.0304	N	0.19112	0.55	.	.	.	B	0.12630	0.006	B	0.06405	0.002	T	0.27536	-1.0071	8	0.87932	D	0	.	3.125	0.06405	0.4183:0.0:0.3934:0.1883	.	8910	B5ME49	.	S	8910	ENSP00000381008:P8910S	ENSP00000381008:P8910S	P	-	1	0	MUC16	8921718	0.000000	0.05858	0.000000	0.03702	0.167000	0.22549	-0.731000	0.04909	-0.995000	0.03459	0.298000	0.19748	CCC	MUC16	-	NULL		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9060718	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A
MYH1	4619	genome.wustl.edu	37	17	10411242	10411242	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:10411242C>G	ENST00000226207.5	-	17	2023	c.1929G>C	c.(1927-1929)aaG>aaC	p.K643N	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	643	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K643N(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AAGAACCCTTCTTCTTACCAC	0.383																																																	1	Substitution - Missense(1)	lung(1)											67.0	75.0	72.0					17																	10411242		2203	4300	6503	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1929G>C	17.37:g.10411242C>G	ENSP00000226207:p.Lys643Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K643N	ENST00000226207.5	37	c.1929	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291986	0.80914	.	.	ENSG00000109061	ENST00000226207	D	0.87729	-2.29	5.56	4.59	0.56863	Myosin head, motor domain (2);	0.000000	0.45361	U	0.000378	D	0.93667	0.7977	M	0.88704	2.975	0.53688	D	0.999973	P	0.49253	0.921	P	0.61397	0.888	D	0.94772	0.7946	10	0.87932	D	0	.	14.9332	0.70933	0.0:0.9309:0.0:0.0691	.	643	P12882	MYH1_HUMAN	N	643	ENSP00000226207:K643N	ENSP00000226207:K643N	K	-	3	2	MYH1	10351967	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.027000	0.49697	1.494000	0.48533	0.650000	0.86243	AAG	MYH1	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.383	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	C	NM_005963		10411242	-1	no_errors	ENST00000226207	ensembl	human	known	70_37	missense	SNP	1.000	G
MYH8	4626	genome.wustl.edu	37	17	10322273	10322273	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:10322273C>T	ENST00000403437.2	-	4	379	c.285G>A	c.(283-285)atG>atA	p.M95I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	95	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GATGAGTCATCATGGCCATGT	0.453									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													207.0	183.0	191.0					17																	10322273		2203	4300	6503	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.285G>A	17.37:g.10322273C>T	ENSP00000384330:p.Met95Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.M95I	ENST00000403437.2	37	c.285	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334146	0.60853	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.87412	-2.25	3.44	3.44	0.39384	Myosin head, motor domain (2);	0.000000	0.50627	U	0.000110	D	0.90758	0.7099	H	0.94808	3.585	0.58432	D	0.999994	B	0.11235	0.004	B	0.21360	0.034	D	0.91352	0.5105	10	0.72032	D	0.01	.	15.3987	0.74818	0.0:1.0:0.0:0.0	.	95	P13535	MYH8_HUMAN	I	95	ENSP00000384330:M95I	ENSP00000252173:M95I	M	-	3	0	MYH8	10262998	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.743000	0.68655	1.929000	0.55896	0.460000	0.39030	ATG	MYH8	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.453	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	C	NM_002472		10322273	-1	no_errors	ENST00000403437	ensembl	human	known	70_37	missense	SNP	1.000	T
MYH4	4622	genome.wustl.edu	37	17	10360825	10360825	+	Silent	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:10360825G>C	ENST00000255381.2	-	16	1919	c.1809C>G	c.(1807-1809)ccC>ccG	p.P603P	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	603	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTCATTCAGGGGGTCCTTGT	0.542																																																	0													90.0	89.0	89.0					17																	10360825		2203	4300	6503	SO:0001819	synonymous_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1809C>G	17.37:g.10360825G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.P603	ENST00000255381.2	37	c.1809	CCDS11154.1	17																																																																																			MYH4	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.542	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	G	NM_017533		10360825	-1	no_errors	ENST00000255381	ensembl	human	known	70_37	silent	SNP	0.997	C
MYH2	4620	genome.wustl.edu	37	17	10448678	10448678	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:10448678G>T	ENST00000245503.5	-	5	874	c.490C>A	c.(490-492)Cag>Aag	p.Q164K	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.Q164K|MYH2_ENST00000397183.2_Missense_Mutation_p.Q164K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	164	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.Q164*(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGCATGAACTGATAGGCGTTG	0.532																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											201.0	203.0	202.0					17																	10448678		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.490C>A	17.37:g.10448678G>T	ENSP00000245503:p.Gln164Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q164K	ENST00000245503.5	37	c.490	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231394	0.58777	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183;ENST00000420805	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.71	5.71	0.89125	Myosin head, motor domain (2);	0.000000	0.37483	U	0.002063	D	0.92453	0.7604	L	0.58428	1.81	0.80722	D	1	P;P	0.52842	0.956;0.578	D;P	0.72075	0.976;0.532	D	0.92262	0.5818	10	0.59425	D	0.04	.	18.8439	0.92196	0.0:0.0:1.0:0.0	.	164;164	Q567P6;Q9UKX2	.;MYH2_HUMAN	K	164	ENSP00000433944:Q164K;ENSP00000245503:Q164K;ENSP00000380367:Q164K;ENSP00000399348:Q164K	ENSP00000245503:Q164K	Q	-	1	0	MYH2	10389403	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.859000	0.99545	2.706000	0.92434	0.650000	0.86243	CAG	MYH2	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.532	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	G	NM_017534		10448678	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	missense	SNP	1.000	T
MYH9	4627	genome.wustl.edu	37	22	36712675	36712675	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr22:36712675C>T	ENST00000216181.5	-	12	1497	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	423	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AACATCCGCTCATAGGTCGCC	0.602			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													66.0	64.0	64.0					22																	36712675		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1267G>A	22.37:g.36712675C>T	ENSP00000216181:p.Glu423Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E423K	ENST00000216181.5	37	c.1267	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	33	5.263556	0.95399	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.88975	-2.45	5.1	5.1	0.69264	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.91300	0.7257	M	0.92412	3.305	0.80722	D	1	B	0.31413	0.322	B	0.20955	0.032	D	0.91823	0.5469	10	0.87932	D	0	.	18.5469	0.91050	0.0:1.0:0.0:0.0	.	423	P35579	MYH9_HUMAN	K	287;423	ENSP00000216181:E423K	ENSP00000216181:E423K	E	-	1	0	MYH9	35042621	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	7.818000	0.86416	2.538000	0.85594	0.585000	0.79938	GAG	MYH9	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.602	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36712675	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	missense	SNP	1.000	T
MYH9	4627	genome.wustl.edu	37	22	36718516	36718516	+	Silent	SNP	G	G	A	rs375965637		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr22:36718516G>A	ENST00000216181.5	-	6	893	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	221	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGCGTTCCCGAAGGCCTCCA	0.687			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				G|||	1	0.000199681	0.0	0.0	5008	,	,		16167	0.001		0.0	False		,,,				2504	0.0							Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0								G		1,4405	2.1+/-5.4	0,1,2202	70.0	59.0	63.0		663	-4.5	1.0	22		63	0,8600		0,0,4300	no	coding-synonymous	MYH9	NM_002473.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		221/1961	36718516	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.663C>T	22.37:g.36718516G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F221	ENST00000216181.5	37	c.663	CCDS13927.1	22																																																																																			MYH9	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.687	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	G	NM_002473		36718516	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	silent	SNP	0.915	A
NAV3	89795	genome.wustl.edu	37	12	78571090	78571090	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:78571090C>T	ENST00000397909.2	+	27	5467	c.5294C>T	c.(5293-5295)tCa>tTa	p.S1765L	NAV3_ENST00000266692.7_Missense_Mutation_p.S1588L|NAV3_ENST00000536525.2_Missense_Mutation_p.S1765L|NAV3_ENST00000228327.6_Missense_Mutation_p.S1765L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1765						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAATCTGCTTCAGCGTAAGTT	0.403										HNSCC(70;0.22)																																							0													98.0	88.0	91.0					12																	78571090		1887	4128	6015	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5294C>T	12.37:g.78571090C>T	ENSP00000381007:p.Ser1765Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S1765L	ENST00000397909.2	37	c.5294		12	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930667	0.52866	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5	5.95	5.95	0.96441	.	0.000000	0.36234	U	0.002718	D	0.92805	0.7712	L	0.43923	1.385	0.80722	D	1	P;B;P;P	0.42296	0.599;0.253;0.577;0.775	B;B;B;B	0.39660	0.284;0.088;0.13;0.306	D	0.93129	0.6531	10	0.87932	D	0	-12.0323	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1765;1588;1765;1765	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	L	1765;1765;1765;1588;379;387	ENSP00000446132:S1765L;ENSP00000381007:S1765L;ENSP00000228327:S1765L;ENSP00000266692:S1588L;ENSP00000448303:S387L	ENSP00000228327:S1765L	S	+	2	0	NAV3	77095221	1.000000	0.71417	0.987000	0.45799	0.407000	0.30961	7.575000	0.82447	2.824000	0.97209	0.655000	0.94253	TCA	NAV3	-	NULL		0.403	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	C	NM_001024383		78571090	+1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	T
NBAS	51594	genome.wustl.edu	37	2	15432833	15432833	+	Missense_Mutation	SNP	C	C	T	rs145651640		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:15432833C>T	ENST00000281513.5	-	41	4880	c.4855G>A	c.(4855-4857)Gaa>Aaa	p.E1619K	NBAS_ENST00000441750.1_Missense_Mutation_p.E1499K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1619					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGCCAGGCTTCGTGCTCATGT	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21216	0.0		0.0	False		,,,				2504	0.0																0								C	LYS/GLU	3,4403	6.2+/-15.9	0,3,2200	115.0	100.0	105.0		4855	2.9	0.6	2	dbSNP_134	105	0,8600		0,0,4300	no	missense	NBAS	NM_015909.2	56	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	1619/2372	15432833	3,13003	2203	4300	6503	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4855G>A	2.37:g.15432833C>T	ENSP00000281513:p.Glu1619Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.E1619K	ENST00000281513.5	37	c.4855	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.285679	0.01387	6.81E-4	0.0	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.09817	2.94;3.11	5.84	2.91	0.33838	.	0.545426	0.19800	N	0.105767	T	0.07052	0.0179	L	0.41236	1.265	0.09310	N	1	P;B	0.36959	0.575;0.027	B;B	0.26310	0.068;0.004	T	0.32025	-0.9922	10	0.87932	D	0	.	4.9875	0.14198	0.1069:0.5297:0.2303:0.133	.	1499;1619	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	K	1499;1619	ENSP00000413201:E1499K;ENSP00000281513:E1619K	ENSP00000281513:E1619K	E	-	1	0	NBAS	15350284	0.000000	0.05858	0.575000	0.28536	0.162000	0.22319	0.198000	0.17217	0.837000	0.34925	-0.217000	0.12591	GAA	NBAS	-	NULL		0.468	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	C	NM_015909		15432833	-1	no_errors	ENST00000281513	ensembl	human	known	70_37	missense	SNP	0.011	T
NBEAL1	65065	genome.wustl.edu	37	2	204073911	204073911	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:204073911C>T	ENST00000449802.1	+	52	7897	c.7564C>T	c.(7564-7566)Cag>Tag	p.Q2522*		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2522										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACATACCATTCAGAAAGGTCA	0.378																																																	0													131.0	120.0	123.0					2																	204073911		1879	4106	5985	SO:0001587	stop_gained	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7564C>T	2.37:g.204073911C>T	ENSP00000399903:p.Gln2522*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q2522*	ENST00000449802.1	37	c.7564	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	C	51	17.310020	0.99883	.	.	ENSG00000144426	ENST00000449802;ENST00000414576	.	.	.	5.26	4.37	0.52481	.	0.077636	0.52532	U	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	14.6519	0.68803	0.1469:0.8531:0.0:0.0	.	.	.	.	X	2522;537	.	ENSP00000388466:Q537X	Q	+	1	0	NBEAL1	203782156	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.662000	0.54510	1.175000	0.42826	0.460000	0.39030	CAG	NBEAL1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.378	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	C			204073911	+1	no_errors	ENST00000449802	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NCAPH2	29781	genome.wustl.edu	37	22	50960208	50960208	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr22:50960208C>G	ENST00000420993.2	+	12	1161	c.1039C>G	c.(1039-1041)Ctg>Gtg	p.L347V	CTA-384D8.36_ENST00000608319.1_RNA|NCAPH2_ENST00000395701.3_Missense_Mutation_p.L347V|NCAPH2_ENST00000520297.1_3'UTR|NCAPH2_ENST00000299821.11_Missense_Mutation_p.L347V	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	347					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGAGGAGGCTCTGGGACAGAA	0.632																																																	0													66.0	62.0	64.0					22																	50960208		2203	4300	6503	SO:0001583	missense	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1039C>G	22.37:g.50960208C>G	ENSP00000410088:p.Leu347Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	pfam_Condensin_II_H2-like	p.L347V	ENST00000420993.2	37	c.1039	CCDS14094.2	22	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.896032	0.00522	.	.	ENSG00000025770	ENST00000420993;ENST00000395701;ENST00000299821	.	.	.	4.7	-0.297	0.12820	.	0.837513	0.10393	N	0.680142	T	0.09335	0.0230	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.22211	0.001;0.015;0.066;0.019	B;B;B;B	0.26310	0.001;0.022;0.068;0.038	T	0.36696	-0.9737	9	0.02654	T	1	-2.0822	1.9803	0.03425	0.392:0.3346:0.1283:0.145	.	347;347;325;347	G3XAG4;Q6IBW4-4;Q6IBW4-2;Q6IBW4	.;.;.;CNDH2_HUMAN	V	347	.	ENSP00000299821:L347V	L	+	1	2	NCAPH2	49307074	0.000000	0.05858	0.539000	0.28077	0.435000	0.31806	0.123000	0.15708	0.393000	0.25203	-0.323000	0.08544	CTG	NCAPH2	-	pfam_Condensin_II_H2-like		0.632	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCAPH2	HGNC	protein_coding	OTTHUMT00000317012.1	C	NM_152299		50960208	+1	no_errors	ENST00000299821	ensembl	human	known	70_37	missense	SNP	0.000	G
NCKAP1	10787	genome.wustl.edu	37	2	183860443	183860443	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:183860443C>T	ENST00000361354.4	-	7	1099	c.727G>A	c.(727-729)Gca>Aca	p.A243T	NCKAP1_ENST00000360982.2_Missense_Mutation_p.A249T	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	243					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCGGACTGTGCTGGATTAAGC	0.368																																																	0													121.0	120.0	121.0					2																	183860443		2203	4300	6503	SO:0001583	missense	10787			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.727G>A	2.37:g.183860443C>T	ENSP00000355348:p.Ala243Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	pfam_Nck-associated_protein-1	p.A249T	ENST00000361354.4	37	c.745	CCDS2287.1	2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130764	0.77549	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.35236	1.32;1.32	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.34424	0.0897	L	0.43701	1.375	0.80722	D	1	B;P	0.35401	0.357;0.499	B;B	0.30316	0.114;0.069	T	0.12066	-1.0562	10	0.54805	T	0.06	-15.8431	20.1438	0.98071	0.0:1.0:0.0:0.0	.	243;249	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	T	243;249	ENSP00000355348:A243T;ENSP00000354251:A249T	ENSP00000354251:A249T	A	-	1	0	NCKAP1	183568688	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	7.818000	0.86416	2.768000	0.95171	0.650000	0.86243	GCA	NCKAP1	-	pfam_Nck-associated_protein-1		0.368	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	HGNC	protein_coding	OTTHUMT00000255867.2	C	NM_205842		183860443	-1	no_errors	ENST00000360982	ensembl	human	known	70_37	missense	SNP	1.000	T
NCSTN	23385	genome.wustl.edu	37	1	160319399	160319399	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:160319399G>C	ENST00000294785.5	+	4	500	c.375G>C	c.(373-375)ttG>ttC	p.L125F	NCSTN_ENST00000535857.1_Missense_Mutation_p.L125F|NCSTN_ENST00000392212.4_Missense_Mutation_p.L105F|NCSTN_ENST00000368063.1_Missense_Mutation_p.L105F|NCSTN_ENST00000368065.4_5'Flank	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	125					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGTGTCCTTGACCAAGCCCA	0.502																																																	0													105.0	94.0	98.0					1																	160319399		2203	4300	6503	SO:0001583	missense	23385			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.375G>C	1.37:g.160319399G>C	ENSP00000294785:p.Leu125Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	pfam_Nicastrin	p.L125F	ENST00000294785.5	37	c.375	CCDS1203.1	1	.	.	.	.	.	.	.	.	.	.	G	7.513	0.655009	0.14580	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000421914;ENST00000535857;ENST00000438008;ENST00000392212	T;T;T;T;T;T	0.77358	-1.07;-1.09;-0.12;-0.1;-0.13;-1.09	4.53	-2.39	0.06602	.	0.678945	0.13694	N	0.369323	T	0.37461	0.1004	L	0.29908	0.895	0.33561	D	0.597314	P;B;B	0.36837	0.571;0.001;0.0	B;B;B	0.41332	0.354;0.002;0.001	T	0.19128	-1.0315	10	0.09084	T	0.74	8.0E-4	0.7527	0.00993	0.414:0.1336:0.2351:0.2173	.	125;105;125	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	F	125;105;125;125;158;105	ENSP00000294785:L125F;ENSP00000357042:L105F;ENSP00000390409:L125F;ENSP00000442605:L125F;ENSP00000389370:L158F;ENSP00000376047:L105F	ENSP00000294785:L125F	L	+	3	2	NCSTN	158586023	0.074000	0.21230	0.928000	0.36995	0.734000	0.41952	-0.140000	0.10342	-0.085000	0.12573	-0.126000	0.14955	TTG	NCSTN	-	NULL		0.502	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCSTN	HGNC	protein_coding	OTTHUMT00000080622.1	G	NM_015331		160319399	+1	no_errors	ENST00000294785	ensembl	human	known	70_37	missense	SNP	0.340	C
NDNF	79625	genome.wustl.edu	37	4	121958175	121958175	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:121958175G>A	ENST00000379692.4	-	4	1477	c.951C>T	c.(949-951)gtC>gtT	p.V317V	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	317	Fibronectin type-III 1.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TGTTGATGTTGACCACAAATA	0.433																																																	0													161.0	137.0	145.0					4																	121958175		2203	4300	6503	SO:0001819	synonymous_variant	79625			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.951C>T	4.37:g.121958175G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.V317	ENST00000379692.4	37	c.951	CCDS3717.2	4																																																																																			NDNF	-	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.433	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDNF	HGNC	protein_coding	OTTHUMT00000256532.2	G	NM_024574		121958175	-1	no_errors	ENST00000379692	ensembl	human	known	70_37	silent	SNP	1.000	A
NIPBL	25836	genome.wustl.edu	37	5	37063920	37063920	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:37063920C>T	ENST00000282516.8	+	46	8388	c.7889C>T	c.(7888-7890)cCt>cTt	p.P2630L	NIPBL_ENST00000448238.2_Missense_Mutation_p.P2630L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2630					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CATCTGGACCCTGATGAAGAA	0.363																																																	0													45.0	43.0	44.0					5																	37063920		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7889C>T	5.37:g.37063920C>T	ENSP00000282516:p.Pro2630Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P2630L	ENST00000282516.8	37	c.7889	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387421	0.82902	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93659	-3.26;-3.26	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.96436	0.8837	M	0.80183	2.485	0.80722	D	1	D;D;D	0.57571	0.965;0.965;0.98	P;P;P	0.61658	0.782;0.782;0.892	D	0.95910	0.8922	10	0.46703	T	0.11	-10.5243	19.3937	0.94596	0.0:1.0:0.0:0.0	.	2630;2630;2630	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	L	2630	ENSP00000282516:P2630L;ENSP00000406266:P2630L	ENSP00000282516:P2630L	P	+	2	0	NIPBL	37099677	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.622000	0.61240	2.583000	0.87209	0.591000	0.81541	CCT	NIPBL	-	NULL		0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	C	NM_015384		37063920	+1	no_errors	ENST00000282516	ensembl	human	known	70_37	missense	SNP	1.000	T
NNT	23530	genome.wustl.edu	37	5	43659317	43659317	+	Silent	SNP	C	C	T	rs556016683		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:43659317C>T	ENST00000264663.5	+	17	2720	c.2499C>T	c.(2497-2499)gtC>gtT	p.V833V	NNT_ENST00000512996.2_Silent_p.V702V|NNT_ENST00000344920.4_Silent_p.V833V	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	833					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ACATGCCCGTCGTTATCACTG	0.473																																																	0													171.0	160.0	164.0					5																	43659317		2203	4300	6503	SO:0001819	synonymous_variant	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2499C>T	5.37:g.43659317C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16796|Q2TB60|Q8N3V4	Silent	SNP	pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a	p.V833	ENST00000264663.5	37	c.2499	CCDS3949.1	5																																																																																			NNT	-	pfam_NADH_DH_b		0.473	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNT	HGNC	protein_coding	OTTHUMT00000214026.1	C	NM_182977		43659317	+1	no_errors	ENST00000264663	ensembl	human	known	70_37	silent	SNP	0.015	T
NOP58	51602	genome.wustl.edu	37	2	203155173	203155173	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:203155173G>A	ENST00000264279.5	+	7	853	c.627G>A	c.(625-627)caG>caA	p.Q209Q	SNORD11B_ENST00000607707.1_RNA|SNORD11_ENST00000459124.1_RNA	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	209				LTYCKCLQKVGDRKNYASAK -> YHTASVYRKLAIGRLCL CQ (in Ref. 6; AAF29084). {ECO:0000305}.	cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						AGTGTTTACAGAAAGTTGGTG	0.318																																																	0																																										SO:0001819	synonymous_variant	51602				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.627G>A	2.37:g.203155173G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53SA4|Q6PK08|Q9P036|Q9UFN3	Silent	SNP	pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.Q209	ENST00000264279.5	37	c.627	CCDS2353.1	2																																																																																			NOP58	-	pfam_NOSIC,smart_NOSIC		0.318	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP58	HGNC	protein_coding	OTTHUMT00000256313.2	G	NM_015934		203155173	+1	no_errors	ENST00000264279	ensembl	human	known	70_37	silent	SNP	1.000	A
NR1H3	10062	genome.wustl.edu	37	11	47283409	47283409	+	Intron	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:47283409G>C	ENST00000467728.1	+	6	2126				NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000441012.2_Intron|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000481889.2_Missense_Mutation_p.K295N|NR1H3_ENST00000527949.1_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3						apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CTCCCTGGAAGAGGCCATGCT	0.577																																																	0																																										SO:0001627	intron_variant	10062			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.889-61G>C	11.37:g.47283409G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt	p.K295N	ENST00000467728.1	37	c.885	CCDS7929.1	11	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535764	0.27475	.	.	ENSG00000025434	ENST00000481889	D	0.93488	-3.23	5.27	0.912	0.19349	.	.	.	.	.	D	0.85818	0.5785	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.70651	-0.4813	7	.	.	.	.	7.2092	0.25925	0.459:0.0:0.541:0.0	.	295	E9PLL4	.	N	295	ENSP00000433271:K295N	.	K	+	3	2	NR1H3	47239985	0.050000	0.20438	0.000000	0.03702	0.001000	0.01503	1.124000	0.31320	-0.034000	0.13713	-0.140000	0.14226	AAG	NR1H3	-	smart_Nucl_hrmn_rcpt_lig-bd_core		0.577	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H3	HGNC	protein_coding	OTTHUMT00000319214.3	G			47283409	+1	no_errors	ENST00000481889	ensembl	human	putative	70_37	missense	SNP	0.000	C
NSL1	25936	genome.wustl.edu	37	1	212955582	212955582	+	Intron	SNP	T	T	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:212955582T>G	ENST00000366977.3	-	4	518				NSL1_ENST00000366978.1_Intron|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366975.6_Intron|NSL1_ENST00000366976.1_Intron|NSL1_ENST00000422588.2_Intron	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component						chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		ATGCTAAACATGAATGACTGG	0.373																																																	0																																										SO:0001627	intron_variant	25936			AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"""chromosome 1 open reading frame 48"", ""NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.499+131A>C	1.37:g.212955582T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	RNA	SNP	-	NULL	ENST00000366977.3	37	NULL	CCDS1509.1	1																																																																																			NSL1	-	-		0.373	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSL1	HGNC	protein_coding	OTTHUMT00000089398.2	T	NM_015471		212955582	-1	no_errors	ENST00000473995	ensembl	human	known	70_37	rna	SNP	0.000	G
NUDT19	390916	genome.wustl.edu	37	19	33183126	33183126	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:33183126C>T	ENST00000397061.3	+	1	260	c.260C>T	c.(259-261)cCg>cTg	p.P87L	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	87	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CACGGGCCGCCGCGCTTCGGC	0.726																																																	0													10.0	12.0	11.0					19																	33183126		1862	3993	5855	SO:0001583	missense	390916				CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.260C>T	19.37:g.33183126C>T	ENSP00000380251:p.Pro87Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.P87L	ENST00000397061.3	37	c.260	CCDS42543.1	19	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203902	0.58234	.	.	ENSG00000213965	ENST00000397061	T	0.46819	0.86	4.12	4.12	0.48240	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.228496	0.35838	U	0.002957	T	0.43478	0.1249	N	0.12746	0.255	0.58432	D	0.999997	D	0.69078	0.997	P	0.59825	0.864	T	0.47381	-0.9122	10	0.72032	D	0.01	-33.7784	10.0346	0.42120	0.0:0.8997:0.0:0.1003	.	87	A8MXV4	NUD19_HUMAN	L	87	ENSP00000380251:P87L	ENSP00000380251:P87L	P	+	2	0	NUDT19	37874966	0.339000	0.24784	0.151000	0.22473	0.034000	0.12701	2.305000	0.43664	2.265000	0.75225	0.313000	0.20887	CCG	NUDT19	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like		0.726	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NUDT19	HGNC	protein_coding	OTTHUMT00000450338.3	C	XM_372723		33183126	+1	no_errors	ENST00000397061	ensembl	human	novel	70_37	missense	SNP	0.597	T
NUMA1	4926	genome.wustl.edu	37	11	71724989	71724989	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:71724989G>A	ENST00000393695.3	-	15	3891	c.3560C>T	c.(3559-3561)tCg>tTg	p.S1187L	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.S1187L|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCGTTGGGCCGAGGCTAAGGC	0.652			T	RARA	APL																																			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													70.0	61.0	64.0					11																	71724989		2200	4293	6493	SO:0001583	missense	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3560C>T	11.37:g.71724989G>A	ENSP00000377298:p.Ser1187Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_Prefoldin	p.S1187L	ENST00000393695.3	37	c.3560	CCDS31633.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.109|8.109	0.778324|0.778324	0.16120|0.16120	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000541584|ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	.|T;T	.|0.12879	.|2.64;2.65	3.86|3.86	3.86|3.86	0.44501|0.44501	.|.	.|0.204889	.|0.24786	.|N	.|0.035614	T|T	0.10809|0.10809	0.0264|0.0264	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.31413	.|0.165;0.322;0.296;0.165	.|B;B;B;B	.|0.22601	.|0.038;0.039;0.04;0.038	T|T	0.16335|0.16335	-1.0406|-1.0406	5|10	.|0.54805	.|T	.|0.06	.|.	9.0872|9.0872	0.36587|0.36587	0.0:0.0:0.7817:0.2183|0.0:0.0:0.7817:0.2183	.|.	.|1193;671;1187;1187	.|Q4LE64;Q59HB8;Q14980-2;Q14980	.|.;.;.;NUMA1_HUMAN	W|L	32|1187;1187;750;156	.|ENSP00000351851:S1187L;ENSP00000377298:S1187L	.|ENSP00000351851:S1187L	R|S	-|-	1|2	2|0	NUMA1|NUMA1	71402637|71402637	0.022000|0.022000	0.18835|0.18835	0.034000|0.034000	0.17996|0.17996	0.071000|0.071000	0.16799|0.16799	2.174000|2.174000	0.42482|0.42482	2.445000|2.445000	0.82738|0.82738	0.655000|0.655000	0.94253|0.94253	CGG|TCG	NUMA1	-	NULL		0.652	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1	G			71724989	-1	no_errors	ENST00000393695	ensembl	human	known	70_37	missense	SNP	0.020	A
NUP107	57122	genome.wustl.edu	37	12	69082777	69082777	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:69082777G>A	ENST00000229179.4	+	2	376	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	RP11-637A17.2_ENST00000500695.2_lincRNA|NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000539906.1_5'UTR	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	15					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 export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)	p.R15L(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CCTGTAATCCGGGAGGCAGAG	0.368																																																	1	Substitution - Missense(1)	lung(1)											127.0	122.0	124.0					12																	69082777		2203	4300	6503	SO:0001583	missense	57122			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.44G>A	12.37:g.69082777G>A	ENSP00000229179:p.Arg15Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZ67|Q6PJE1	Missense_Mutation	SNP	pfam_Nup84_Nup100	p.R15Q	ENST00000229179.4	37	c.44	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.263112	0.95399	.	.	ENSG00000111581	ENST00000229179	.	.	.	5.45	5.45	0.79879	.	0.124363	0.53938	D	0.000045	T	0.75191	0.3816	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.73007	-0.4118	8	.	.	.	-19.8213	17.1594	0.86800	0.0:0.0:1.0:0.0	.	15	P57740	NU107_HUMAN	Q	15	.	.	R	+	2	0	NUP107	67369044	1.000000	0.71417	0.995000	0.50966	0.930000	0.56654	2.481000	0.45215	2.722000	0.93159	0.467000	0.42956	CGG	NUP107	-	NULL		0.368	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1	G	NM_020401		69082777	+1	no_errors	ENST00000229179	ensembl	human	known	70_37	missense	SNP	0.999	A
NUP62	23636	genome.wustl.edu	37	19	50411753	50411753	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:50411753C>T	ENST00000596217.1	-	2	3199	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	NUP62_ENST00000413454.1_Missense_Mutation_p.E438K|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.E438K|NUP62_ENST00000597723.1_Missense_Mutation_p.E362K|NUP62_ENST00000597029.1_Missense_Mutation_p.E438K|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000352066.3_Missense_Mutation_p.E438K|IL4I1_ENST00000341114.3_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	438					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCGATGTTCTCAGCCAGCTTG	0.602																																																	0													170.0	148.0	156.0					19																	50411753		2203	4300	6503	SO:0001583	missense	23636			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.1312G>A	19.37:g.50411753C>T	ENSP00000471191:p.Glu438Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	pfam_Nucleoporin_NSP1_C	p.E438K	ENST00000596217.1	37	c.1312	CCDS12788.1	19	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868978	0.91587	.	.	ENSG00000213024	ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.54675	0.56;0.56;0.56	5.02	5.02	0.67125	Nucleoporin, NSP1-like, C-terminal (1);	0.000000	0.64402	U	0.000001	T	0.55561	0.1928	M	0.71920	2.185	0.80722	D	1	B	0.28998	0.23	B	0.33690	0.168	T	0.53143	-0.8480	9	.	.	.	-18.7066	16.2382	0.82393	0.0:1.0:0.0:0.0	.	438	P37198	NUP62_HUMAN	K	438	ENSP00000305503:E438K;ENSP00000407331:E438K;ENSP00000387991:E438K	.	E	-	1	0	NUP62	55103565	1.000000	0.71417	0.981000	0.43875	0.898000	0.52572	7.346000	0.79347	2.775000	0.95449	0.655000	0.94253	GAG	NUP62	-	NULL		0.602	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUP62	HGNC	protein_coding	OTTHUMT00000464991.1	C	NM_153719		50411753	-1	no_errors	ENST00000352066	ensembl	human	known	70_37	missense	SNP	0.999	T
NUP62	23636	genome.wustl.edu	37	19	50413062	50413062	+	Start_Codon_SNP	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:50413062C>G	ENST00000596217.1	-	2	1890	c.3G>C	c.(1-3)atG>atC	p.M1I	NUP62_ENST00000413454.1_Start_Codon_SNP_p.M1I|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Start_Codon_SNP_p.M1I|NUP62_ENST00000597723.1_Start_Codon_SNP_p.M1I|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000597029.1_Start_Codon_SNP_p.M1I|NUP62_ENST00000600583.1_5'UTR|NUP62_ENST00000352066.3_Start_Codon_SNP_p.M1I|IL4I1_ENST00000341114.3_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	1					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TAAACCCGCTCATGGCTCCGG	0.547																																																	0													22.0	27.0	25.0					19																	50413062		2193	4293	6486	SO:0001582	initiator_codon_variant	23636			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.3G>C	19.37:g.50413062C>G	ENSP00000471191:p.Met1Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	pfam_Nucleoporin_NSP1_C	p.M1I	ENST00000596217.1	37	c.3	CCDS12788.1	19	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596514	0.46318	.	.	ENSG00000213024	ENST00000319225;ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.44482	0.92;0.92;0.92	5.09	4.03	0.46877	.	0.163888	0.41823	U	0.000805	T	0.36331	0.0963	.	.	.	0.80722	D	1	P;B	0.34587	0.458;0.329	B;B	0.35039	0.194;0.095	T	0.25187	-1.0139	9	0.44086	T	0.13	-17.1724	13.4364	0.61086	0.0:0.8411:0.1589:0.0	.	1;1	Q8WYU3;P37198	.;NUP62_HUMAN	I	1	ENSP00000305503:M1I;ENSP00000407331:M1I;ENSP00000387991:M1I	ENSP00000321866:M1I	M	-	3	0	NUP62	55104874	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.930000	0.56522	1.468000	0.48064	0.655000	0.94253	ATG	NUP62	-	NULL		0.547	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUP62	HGNC	protein_coding	OTTHUMT00000464991.1	C	NM_153719	Missense_Mutation	50413062	-1	no_errors	ENST00000352066	ensembl	human	known	70_37	missense	SNP	1.000	G
OPRL1	4987	genome.wustl.edu	37	20	62729390	62729390	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:62729390C>T	ENST00000349451.3	+	5	881	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	OPRL1_ENST00000355631.4_Missense_Mutation_p.R157C|OPRL1_ENST00000336866.2_Missense_Mutation_p.R157C	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	157					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CCACCCCATCCGTGCCCTCGA	0.572																																																	0													168.0	144.0	152.0					20																	62729390		2203	4300	6503	SO:0001583	missense	4987				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.469C>T	20.37:g.62729390C>T	ENSP00000336764:p.Arg157Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_NPY_rcpt	p.R157C	ENST00000349451.3	37	c.469	CCDS13556.1	20	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838606	0.71373	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.43294	0.95;0.95;0.95	5.05	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.055779	0.64402	D	0.000002	T	0.68128	0.2967	H	0.94582	3.555	0.54753	D	0.999984	D;D	0.76494	0.998;0.999	P;P	0.60609	0.736;0.877	T	0.76761	-0.2840	10	0.87932	D	0	.	11.0074	0.47641	0.3793:0.6207:0.0:0.0	.	152;157	P41146-2;P41146	.;OPRX_HUMAN	C	157	ENSP00000336843:R157C;ENSP00000347848:R157C;ENSP00000336764:R157C	ENSP00000336843:R157C	R	+	1	0	OPRL1	62199834	1.000000	0.71417	0.995000	0.50966	0.591000	0.36615	5.228000	0.65310	2.374000	0.81015	0.551000	0.68910	CGT	OPRL1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.572	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OPRL1	HGNC	protein_coding	OTTHUMT00000080295.1	C	NM_182647		62729390	+1	no_errors	ENST00000336866	ensembl	human	known	70_37	missense	SNP	1.000	T
OR11H12	440153	genome.wustl.edu	37	14	19378189	19378189	+	Missense_Mutation	SNP	G	G	T	rs2212201		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:19378189G>T	ENST00000550708.1	+	1	668	c.596G>T	c.(595-597)cGa>cTa	p.R199L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGGGCCACGATTTGCATTG	0.433																																																	0													4.0	4.0	4.0					14																	19378189		1326	2875	4201	SO:0001583	missense	440153				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.596G>T	14.37:g.19378189G>T	ENSP00000449002:p.Arg199Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R199L	ENST00000550708.1	37	c.596	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	g	0	-2.644232	0.00111	.	.	ENSG00000257115	ENST00000550708	T	0.00021	9.03	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.245959	0.20320	N	0.094649	T	0.00012	0.0000	N	0.00000	-4.185	0.22142	N	0.999331	B	0.02656	0.0	B	0.01281	0.0	T	0.54977	-0.8212	9	0.02654	T	1	.	4.8306	0.13437	0.0:0.0:0.3122:0.6878	.	199	B2RN74	O11HC_HUMAN	L	199	ENSP00000449002:R199L	ENSP00000449002:R199L	R	+	2	0	CR383656.1	18448189	0.000000	0.05858	0.203000	0.23512	0.050000	0.14768	0.578000	0.23773	-1.737000	0.01350	-2.446000	0.00210	CGA	OR11H12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.433	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	HGNC	protein_coding	OTTHUMT00000408402.1	G	NM_001013354		19378189	+1	no_errors	ENST00000550708	ensembl	human	known	70_37	missense	SNP	0.000	T
OR13C9	286362	genome.wustl.edu	37	9	107379601	107379601	+	Missense_Mutation	SNP	G	G	C	rs369126446		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:107379601G>C	ENST00000259362.1	-	1	884	c.885C>G	c.(883-885)atC>atG	p.I295M		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TAAGACTGTAGATTAAAGGAT	0.393																																																	0													167.0	161.0	163.0					9																	107379601		2203	4298	6501	SO:0001583	missense	286362				CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.885C>G	9.37:g.107379601G>C	ENSP00000259362:p.Ile295Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFL2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I295M	ENST00000259362.1	37	c.885	CCDS35093.1	9	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096249	0.36952	.	.	ENSG00000136839	ENST00000259362	T	0.57273	0.41	4.5	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000137	T	0.77150	0.4088	H	0.97564	4.03	0.22500	N	0.999049	D	0.89917	1.0	D	0.72625	0.978	T	0.67300	-0.5705	10	0.87932	D	0	.	6.0667	0.19868	0.0949:0.0:0.3637:0.5413	.	295	Q8NGT0	O13C9_HUMAN	M	295	ENSP00000259362:I295M	ENSP00000259362:I295M	I	-	3	3	OR13C9	106419422	0.964000	0.33143	0.999000	0.59377	0.894000	0.52154	0.070000	0.14573	0.104000	0.17725	-0.152000	0.13540	ATC	OR13C9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.393	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C9	HGNC	protein_coding	OTTHUMT00000053490.1	G			107379601	-1	no_errors	ENST00000259362	ensembl	human	known	70_37	missense	SNP	0.989	C
OR2G2	81470	genome.wustl.edu	37	1	247752501	247752501	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:247752501C>G	ENST00000320065.1	+	1	840	c.840C>G	c.(838-840)ttC>ttG	p.F280L	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTTCTCTCTTCTACACTGTGG	0.463																																																	0													139.0	137.0	138.0					1																	247752501		2203	4300	6503	SO:0001583	missense	81470			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.840C>G	1.37:g.247752501C>G	ENSP00000326349:p.Phe280Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F280L	ENST00000320065.1	37	c.840	CCDS31092.1	1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429659	0.43122	.	.	ENSG00000177489	ENST00000320065	T	0.00032	8.88	4.29	1.3	0.21679	GPCR, rhodopsin-like superfamily (1);	0.186497	0.25427	U	0.030760	T	0.00144	0.0004	L	0.42008	1.315	0.26408	N	0.976313	B	0.28350	0.208	B	0.33690	0.168	T	0.27365	-1.0076	10	0.66056	D	0.02	.	3.6645	0.08250	0.1719:0.5346:0.0:0.2934	.	280	Q8NGZ5	OR2G2_HUMAN	L	280	ENSP00000326349:F280L	ENSP00000326349:F280L	F	+	3	2	OR2G2	245819124	0.000000	0.05858	0.999000	0.59377	0.954000	0.61252	-1.963000	0.01513	0.447000	0.26695	0.591000	0.81541	TTC	OR2G2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.463	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G2	HGNC	protein_coding	OTTHUMT00000097623.1	C			247752501	+1	no_errors	ENST00000320065	ensembl	human	known	70_37	missense	SNP	0.863	G
OR4L1	122742	genome.wustl.edu	37	14	20528262	20528262	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:20528262G>C	ENST00000315683.1	+	1	59	c.59G>C	c.(58-60)cGa>cCa	p.R20P		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R20Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTTTTTGGACGATGGGAACTT	0.363																																																	1	Substitution - Missense(1)	skin(1)											162.0	170.0	167.0					14																	20528262		2203	4299	6502	SO:0001583	missense	122742				CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.59G>C	14.37:g.20528262G>C	ENSP00000319217:p.Arg20Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IEZ5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R20P	ENST00000315683.1	37	c.59	CCDS32029.1	14	.	.	.	.	.	.	.	.	.	.	.	1.820	-0.472485	0.04445	.	.	ENSG00000176246	ENST00000315683	T	0.00492	7.01	3.84	-7.68	0.01268	.	2.863450	0.01157	N	0.006559	T	0.00300	0.0009	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45220	-0.9276	10	0.72032	D	0.01	.	5.5602	0.17140	0.1509:0.3179:0.4485:0.0827	.	20	Q8NH43	OR4L1_HUMAN	P	20	ENSP00000319217:R20P	ENSP00000319217:R20P	R	+	2	0	OR4L1	19598102	0.000000	0.05858	0.000000	0.03702	0.635000	0.38103	-6.842000	0.00052	-3.003000	0.00275	-2.322000	0.00252	CGA	OR4L1	-	NULL		0.363	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4L1	HGNC	protein_coding	OTTHUMT00000404381.1	G			20528262	+1	no_errors	ENST00000315683	ensembl	human	known	70_37	missense	SNP	0.000	C
OR5H1	26341	genome.wustl.edu	37	3	97851984	97851984	+	Missense_Mutation	SNP	C	C	T	rs375835310		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:97851984C>T	ENST00000354565.2	+	1	443	c.443C>T	c.(442-444)tCa>tTa	p.S148L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	148			S -> T (in dbSNP:rs5009896).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TTAATCTTGTCATATGTAGGT	0.383																																																	0													60.0	72.0	68.0					3																	97851984		2184	4281	6465	SO:0001583	missense	26341			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.443C>T	3.37:g.97851984C>T	ENSP00000346575:p.Ser148Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S148L	ENST00000354565.2	37	c.443	CCDS33797.1	3	.	.	.	.	.	.	.	.	.	.	C	7.196	0.592503	0.13875	.	.	ENSG00000231192	ENST00000354565	T	0.37752	1.18	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39020	N	0.001495	T	0.44329	0.1288	M	0.81614	2.55	0.09310	N	1	B	0.23806	0.091	B	0.32022	0.139	T	0.48570	-0.9024	10	0.59425	D	0.04	.	12.6623	0.56822	0.0:1.0:0.0:0.0	.	148	A6NKK0	OR5H1_HUMAN	L	148	ENSP00000346575:S148L	ENSP00000346575:S148L	S	+	2	0	OR5H1	99334674	0.000000	0.05858	0.006000	0.13384	0.015000	0.08874	0.609000	0.24238	1.818000	0.53035	0.195000	0.17529	TCA	OR5H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.383	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H1	HGNC	protein_coding	OTTHUMT00000359100.2	C	NM_001005338		97851984	+1	no_errors	ENST00000354565	ensembl	human	known	70_37	missense	SNP	0.092	T
PAN2	9924	genome.wustl.edu	37	12	56726779	56726779	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:56726779G>A	ENST00000425394.2	-	2	476	c.100C>T	c.(100-102)Cta>Tta	p.L34L	PAN2_ENST00000257931.5_Silent_p.L34L|PAN2_ENST00000440411.3_Silent_p.L34L|PAN2_ENST00000548043.1_Silent_p.L34L	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	ACATTCTGTAGCAGACTTGGG	0.552																																																	0													106.0	93.0	97.0					12																	56726779		2203	4300	6503	SO:0001819	synonymous_variant	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.100C>T	12.37:g.56726779G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19	p.L34	ENST00000425394.2	37	c.100	CCDS44922.1	12																																																																																			PAN2	-	NULL		0.552	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN2	HGNC	protein_coding	OTTHUMT00000409024.1	G	NM_014871		56726779	-1	no_errors	ENST00000425394	ensembl	human	known	70_37	silent	SNP	1.000	A
PBLD	64081	genome.wustl.edu	37	10	70043943	70043943	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:70043943C>T	ENST00000358769.2	-	10	1060	c.858G>A	c.(856-858)ctG>ctA	p.L286L	PBLD_ENST00000336578.1_Silent_p.L253L|PBLD_ENST00000309049.4_Silent_p.L286L	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	286					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCTAGGCTGTCAGTGTGCCCT	0.493																																																	0													212.0	175.0	187.0					10																	70043943		2203	4300	6503	SO:0001819	synonymous_variant	64081			AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.858G>A	10.37:g.70043943C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZJ3|C9JIM0|Q9HCC2	Silent	SNP	pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF	p.L286	ENST00000358769.2	37	c.858	CCDS7277.2	10																																																																																			PBLD	-	pirsf_Phenazine_PhzF		0.493	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PBLD	HGNC	protein_coding	OTTHUMT00000048314.1	C	NM_022129		70043943	-1	no_errors	ENST00000309049	ensembl	human	known	70_37	silent	SNP	1.000	T
PBLD	64081	genome.wustl.edu	37	10	70066543	70066543	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:70066543G>A	ENST00000358769.2	-	2	261	c.59C>T	c.(58-60)cCt>cTt	p.P20L	PBLD_ENST00000432941.1_Missense_Mutation_p.P20L|PBLD_ENST00000309049.4_Missense_Mutation_p.P20L|PBLD_ENST00000495025.2_Missense_Mutation_p.P20L	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	20					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						AACAGCAGCAGGATTCCCACG	0.368																																																	0													91.0	85.0	87.0					10																	70066543		2203	4300	6503	SO:0001583	missense	64081			AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.59C>T	10.37:g.70066543G>A	ENSP00000351619:p.Pro20Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF	p.P20L	ENST00000358769.2	37	c.59	CCDS7277.2	10	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573023	0.86542	.	.	ENSG00000108187	ENST00000358769;ENST00000309049;ENST00000432941;ENST00000277795	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.76097	0.3940	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.986;0.998;0.996	D	0.83801	0.0236	10	0.87932	D	0	-13.7435	16.6073	0.84834	0.0:0.0:1.0:0.0	.	20;20;20	F8W7D0;C9JIM0;P30039	.;.;PBLD_HUMAN	L	20	ENSP00000351619:P20L;ENSP00000308466:P20L;ENSP00000395534:P20L;ENSP00000277795:P20L	ENSP00000277795:P20L	P	-	2	0	PBLD	69736549	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.996000	0.63914	2.649000	0.89929	0.655000	0.94253	CCT	PBLD	-	pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF		0.368	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PBLD	HGNC	protein_coding	OTTHUMT00000048314.1	G	NM_022129		70066543	-1	no_errors	ENST00000309049	ensembl	human	known	70_37	missense	SNP	1.000	A
PBX2	5089	genome.wustl.edu	37	6	32154456	32154456	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr6:32154456G>A	ENST00000375050.4	-	8	1395	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	AGER_ENST00000375065.5_5'Flank|AGER_ENST00000375076.4_5'Flank|AGER_ENST00000438221.2_5'Flank|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000538695.1_5'Flank|AGER_ENST00000375055.2_5'Flank|AGER_ENST00000375070.3_5'Flank|AGER_ENST00000375067.3_5'Flank|AGER_ENST00000375069.3_5'Flank	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	375					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TCGAGTGTCGGAGTGATTCCA	0.557																																																	0													43.0	45.0	44.0					6																	32154456		2203	4300	6503	SO:0001819	synonymous_variant	5089				CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.1125C>T	6.37:g.32154456G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2BFJ2	Silent	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.L375	ENST00000375050.4	37	c.1125	CCDS4748.1	6																																																																																			PBX2	-	NULL		0.557	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX2	HGNC	protein_coding	OTTHUMT00000076194.4	G			32154456	-1	no_errors	ENST00000375050	ensembl	human	known	70_37	silent	SNP	0.998	A
PCDHA2	56146	genome.wustl.edu	37	5	140176742	140176742	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:140176742G>A	ENST00000526136.1	+	1	2193	c.2193G>A	c.(2191-2193)gcG>gcA	p.A731A	PCDHA2_ENST00000520672.2_Silent_p.A731A|PCDHA2_ENST00000378132.1_Silent_p.A731A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	731					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGGGTGCGCGCGCGCCAG	0.677																																																	0													52.0	54.0	53.0					5																	140176742		2203	4299	6502	SO:0001819	synonymous_variant	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2193G>A	5.37:g.140176742G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O75287|Q9BTV3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A731	ENST00000526136.1	37	c.2193	CCDS54914.1	5																																																																																			PCDHA2	-	NULL		0.677	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	G	NM_018905		140176742	+1	no_errors	ENST00000526136	ensembl	human	known	70_37	silent	SNP	0.000	A
PCDHB3	56132	genome.wustl.edu	37	5	140482562	140482562	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:140482562C>G	ENST00000231130.2	+	1	2329	c.2329C>G	c.(2329-2331)Cag>Gag	p.Q777E	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	777					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCGTTGCTCAGGGTGCAGA	0.483																																																	0													82.0	86.0	85.0					5																	140482562		2203	4297	6500	SO:0001583	missense	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2329C>G	5.37:g.140482562C>G	ENSP00000231130:p.Gln777Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q777E	ENST00000231130.2	37	c.2329	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	7.850	0.723781	0.15439	.	.	ENSG00000113205	ENST00000231130	T	0.15139	2.45	3.11	1.07	0.20283	.	.	.	.	.	T	0.18676	0.0448	M	0.66439	2.03	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.21759	-1.0236	9	0.39692	T	0.17	.	8.9067	0.35528	0.0:0.5243:0.4757:0.0	.	777	Q9Y5E6	PCDB3_HUMAN	E	777	ENSP00000231130:Q777E	ENSP00000231130:Q777E	Q	+	1	0	PCDHB3	140462746	0.000000	0.05858	0.001000	0.08648	0.179000	0.23085	-0.482000	0.06544	-0.046000	0.13446	0.484000	0.47621	CAG	PCDHB3	-	NULL		0.483	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	C	NM_018937		140482562	+1	no_errors	ENST00000231130	ensembl	human	known	70_37	missense	SNP	0.002	G
PCDHGA6	56109	genome.wustl.edu	37	5	140754203	140754203	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:140754203G>A	ENST00000517434.1	+	1	553	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCAAAGCGAAGCCCATGG	0.552																																																	0													21.0	23.0	22.0					5																	140754203		1982	4176	6158	SO:0001583	missense	56109			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.553G>A	5.37:g.140754203G>A	ENSP00000429601:p.Glu185Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E185K	ENST00000517434.1	37	c.553	CCDS54926.1	5	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.415719	0.00191	.	.	ENSG00000253731	ENST00000517434	T	0.19669	2.13	5.23	-3.27	0.05048	Cadherin (4);Cadherin-like (1);	0.673378	0.11050	U	0.605112	T	0.05547	0.0146	N	0.01242	-0.935	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.41466	-0.9507	10	0.17369	T	0.5	.	7.4167	0.27048	0.3891:0.3515:0.2595:0.0	.	185;185	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	K	185	ENSP00000429601:E185K	ENSP00000429601:E185K	E	+	1	0	PCDHGA6	140734387	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-2.981000	0.00662	-0.867000	0.04063	-0.929000	0.02709	GAA	PCDHGA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.552	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	G	NM_018919		140754203	+1	no_errors	ENST00000517434	ensembl	human	known	70_37	missense	SNP	0.000	A
PCDHGB7	56099	genome.wustl.edu	37	5	140797792	140797792	+	Silent	SNP	G	G	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:140797792G>T	ENST00000398594.2	+	1	366	c.366G>T	c.(364-366)gtG>gtT	p.V122V	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	122	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATTGTGGTGATTGAGGATG	0.403																																																	0													148.0	151.0	150.0					5																	140797792		1864	4086	5950	SO:0001819	synonymous_variant	56099			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.366G>T	5.37:g.140797792G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UN63	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V122	ENST00000398594.2	37	c.366	CCDS47293.1	5																																																																																			PCDHGB7	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.403	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1	G	NM_018927		140797792	+1	no_errors	ENST00000398594	ensembl	human	known	70_37	silent	SNP	0.012	T
PELP1	27043	genome.wustl.edu	37	17	4576054	4576054	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:4576054C>T	ENST00000574876.1	-	16	2249	c.2232G>A	c.(2230-2232)ggG>ggA	p.G744G	AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000301396.4_Silent_p.G888G|PELP1_ENST00000269230.7_Silent_p.G654G|PELP1_ENST00000436683.2_Silent_p.G597G|PELP1_ENST00000572293.1_Silent_p.G794G			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	744	Pro-rich.				cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GTGGGGGAGTCCCACTAGGGG	0.582																																																	0													18.0	21.0	20.0					17																	4576054		1901	4109	6010	SO:0001819	synonymous_variant	27043				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.2232G>A	17.37:g.4576054C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Silent	SNP	pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold	p.G888	ENST00000574876.1	37	c.2664	CCDS58503.1	17																																																																																			PELP1	-	NULL		0.582	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PELP1	HGNC	protein_coding	OTTHUMT00000439140.2	C	NM_014389		4576054	-1	no_errors	ENST00000301396	ensembl	human	known	70_37	silent	SNP	0.993	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PIK3CD	5293	genome.wustl.edu	37	1	9784049	9784049	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:9784049G>A	ENST00000377346.4	+	21	2812	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K	PIK3CD_ENST00000361110.2_Missense_Mutation_p.E897K|PIK3CD_ENST00000536656.1_Missense_Mutation_p.E897K	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	873	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TCGAGCCATTGAGGAGTTCAC	0.542																																																	0													149.0	137.0	141.0					1																	9784049		2203	4300	6503	SO:0001583	missense	5293				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2617G>A	1.37:g.9784049G>A	ENSP00000366563:p.Glu873Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E897K	ENST00000377346.4	37	c.2689	CCDS104.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.833724	0.97003	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.74526	-0.85;-0.85;-0.85	5.01	5.01	0.66863	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.82783	0.5112	L	0.48877	1.53	0.80722	D	1	D;D;D	0.71674	0.967;0.998;0.997	P;D;D	0.72075	0.838;0.954;0.976	D	0.84666	0.0709	10	0.72032	D	0.01	-36.1738	18.2987	0.90155	0.0:0.0:1.0:0.0	.	872;897;873	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	K	897;873;897;897	ENSP00000446444:E897K;ENSP00000366563:E873K;ENSP00000354410:E897K	ENSP00000353766:E897K	E	+	1	0	PIK3CD	9706636	1.000000	0.71417	0.977000	0.42913	0.947000	0.59692	9.864000	0.99589	2.327000	0.79052	0.561000	0.74099	GAG	PIK3CD	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.542	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1	G	NM_005026		9784049	+1	no_errors	ENST00000536656	ensembl	human	known	70_37	missense	SNP	1.000	A
PITX3	5309	genome.wustl.edu	37	10	103990664	103990664	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:103990664G>A	ENST00000370002.3	-	4	669	c.516C>T	c.(514-516)ttC>ttT	p.F172F	PITX3_ENST00000539804.1_Silent_p.F172F	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	172					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	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)			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGTTGAAGGCGAATGGAAAGG	0.697																																																	0													15.0	18.0	17.0					10																	103990664		2193	4283	6476	SO:0001819	synonymous_variant	5309				CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"""Homeoboxes / PRD class"""	9006	protein-coding gene	gene with protein product		602669	"""paired-like homeodomain transcription factor 3"", ""anterior segment mesenchymal dysgenesis"""	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.516C>T	10.37:g.103990664G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VZL2	Silent	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain	p.F172	ENST00000370002.3	37	c.516	CCDS7532.1	10																																																																																			PITX3	-	pirsf_Homeobox_Pitx/unc30		0.697	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITX3	HGNC	protein_coding	OTTHUMT00000050031.1	G			103990664	-1	no_errors	ENST00000370002	ensembl	human	known	70_37	silent	SNP	1.000	A
PITX3	5309	genome.wustl.edu	37	10	103990725	103990725	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:103990725G>T	ENST00000370002.3	-	4	608	c.455C>A	c.(454-456)tCg>tAg	p.S152*	PITX3_ENST00000539804.1_Nonsense_Mutation_p.S152*	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	152					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	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)			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTTGCCGTACGAGTAGCCGGG	0.687																																																	0													16.0	19.0	18.0					10																	103990725		2200	4298	6498	SO:0001587	stop_gained	5309				CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"""Homeoboxes / PRD class"""	9006	protein-coding gene	gene with protein product		602669	"""paired-like homeodomain transcription factor 3"", ""anterior segment mesenchymal dysgenesis"""	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.455C>A	10.37:g.103990725G>T	ENSP00000359019:p.Ser152*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VZL2	Nonsense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain	p.S152*	ENST00000370002.3	37	c.455	CCDS7532.1	10	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900883	0.92035	.	.	ENSG00000107859	ENST00000370002;ENST00000539804	.	.	.	4.46	4.46	0.54185	.	0.057709	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1302	0.86724	0.0:0.0:1.0:0.0	.	.	.	.	X	152	.	ENSP00000359019:S152X	S	-	2	0	PITX3	103980715	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	9.648000	0.98483	2.017000	0.59298	0.455000	0.32223	TCG	PITX3	-	pirsf_Homeobox_Pitx/unc30		0.687	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITX3	HGNC	protein_coding	OTTHUMT00000050031.1	G			103990725	-1	no_errors	ENST00000370002	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PKN3	29941	genome.wustl.edu	37	9	131476870	131476870	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:131476870G>A	ENST00000291906.4	+	12	1904	c.1511G>A	c.(1510-1512)gGt>gAt	p.G504D		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	504	Pro-rich.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						ACCCCCTTGGGTGAAGAGATG	0.607																																																	0													62.0	64.0	63.0					9																	131476870		2203	4300	6503	SO:0001583	missense	29941			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1511G>A	9.37:g.131476870G>A	ENSP00000291906:p.Gly504Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UM03	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.G504D	ENST00000291906.4	37	c.1511	CCDS6908.1	9	.	.	.	.	.	.	.	.	.	.	G	9.668	1.145881	0.21288	.	.	ENSG00000160447	ENST00000291906	T	0.22539	1.95	4.91	-2.55	0.06288	.	.	.	.	.	T	0.11922	0.0290	L	0.36672	1.1	0.09310	N	1	B	0.20671	0.047	B	0.21708	0.036	T	0.36625	-0.9740	9	0.28530	T	0.3	.	0.8584	0.01187	0.2607:0.1275:0.3913:0.2206	.	504	Q6P5Z2	PKN3_HUMAN	D	504	ENSP00000291906:G504D	ENSP00000291906:G504D	G	+	2	0	PKN3	130516691	0.967000	0.33354	0.013000	0.15412	0.213000	0.24496	0.205000	0.17356	-0.103000	0.12175	-0.300000	0.09419	GGT	PKN3	-	NULL		0.607	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN3	HGNC	protein_coding	OTTHUMT00000054487.1	G	NM_013355		131476870	+1	no_errors	ENST00000291906	ensembl	human	known	70_37	missense	SNP	0.003	A
PLCB2	5330	genome.wustl.edu	37	15	40582813	40582813	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:40582813C>A	ENST00000260402.3	-	29	3423	c.3174G>T	c.(3172-3174)atG>atT	p.M1058I	PLCB2_ENST00000456256.2_Missense_Mutation_p.M1043I|PLCB2_ENST00000557821.1_Missense_Mutation_p.M1054I	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1058					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGACTTTGGTCATGCCCTGGA	0.577																																																	0													246.0	252.0	250.0					15																	40582813		2016	4181	6197	SO:0001583	missense	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.3174G>T	15.37:g.40582813C>A	ENSP00000260402:p.Met1058Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6J2|B9EGH5	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.M1058I	ENST00000260402.3	37	c.3174	CCDS42020.1	15	.	.	.	.	.	.	.	.	.	.	C	9.379	1.072382	0.20147	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.38240	1.15;1.15	4.3	3.35	0.38373	PLC-beta, C-terminal (1);	0.481200	0.18192	N	0.148794	T	0.28366	0.0701	L	0.43152	1.355	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.002;0.001;0.003	T	0.05903	-1.0857	10	0.10636	T	0.68	.	13.0887	0.59156	0.0:0.8375:0.1625:0.0	.	1043;1054;1058	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	I	1058;1043	ENSP00000260402:M1058I;ENSP00000411991:M1043I	ENSP00000260402:M1058I	M	-	3	0	PLCB2	38370105	1.000000	0.71417	0.993000	0.49108	0.863000	0.49368	3.070000	0.50033	0.951000	0.37770	0.561000	0.74099	ATG	PLCB2	-	pirsf_PLC-beta,pfam_PLC-beta_C		0.577	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2	HGNC	protein_coding	OTTHUMT00000418430.1	C			40582813	-1	no_errors	ENST00000260402	ensembl	human	known	70_37	missense	SNP	1.000	A
PLEKHA1	59338	genome.wustl.edu	37	10	124172482	124172482	+	Missense_Mutation	SNP	G	G	A	rs374805648		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:124172482G>A	ENST00000368990.3	+	6	520	c.389G>A	c.(388-390)cGc>cAc	p.R130H	PLEKHA1_ENST00000368988.1_Missense_Mutation_p.R130H|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.R130H|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.R130H|PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.R130H	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	130					androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AACCTAAGTCGCCATGGTGAA	0.388																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	127.0	113.0	117.0		389,389,389	5.0	1.0	10		117	0,8600		0,0,4300	no	missense,missense,missense	PLEKHA1	NM_001001974.2,NM_001195608.1,NM_021622.4	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	130/405,130/335,130/405	124172482	1,13005	2203	4300	6503	SO:0001583	missense	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.389G>A	10.37:g.124172482G>A	ENSP00000357986:p.Arg130His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R130H	ENST00000368990.3	37	c.389	CCDS7629.1	10	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317100	0.60524	2.27E-4	0.0	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000433307	T;T;T;T;T	0.18016	3.36;3.23;3.23;2.24;3.36	5.88	4.98	0.66077	.	0.326514	0.38492	N	0.001677	T	0.19005	0.0456	L	0.54323	1.7	0.36181	D	0.849445	B;P	0.50528	0.154;0.936	B;B	0.43194	0.006;0.411	T	0.18808	-1.0325	10	0.42905	T	0.14	-9.8339	11.0645	0.47968	0.1409:0.0:0.8591:0.0	.	130;130	B3KQ55;Q9HB21	.;PKHA1_HUMAN	H	130	ENSP00000357986:R130H;ENSP00000357985:R130H;ENSP00000357984:R130H;ENSP00000438608:R130H;ENSP00000394416:R130H	ENSP00000357984:R130H	R	+	2	0	PLEKHA1	124162472	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.381000	0.44336	1.504000	0.48704	0.591000	0.81541	CGC	PLEKHA1	-	NULL		0.388	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA1	HGNC	protein_coding	OTTHUMT00000050783.1	G	NM_001001974		124172482	+1	no_errors	ENST00000368990	ensembl	human	known	70_37	missense	SNP	1.000	A
PLEKHA7	144100	genome.wustl.edu	37	11	16877407	16877407	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:16877407G>A	ENST00000355661.3	-	5	370	c.360C>T	c.(358-360)gtC>gtT	p.V120V	PLEKHA7_ENST00000448080.2_Silent_p.V120V|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.V120V			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	120					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						ATGTTTCACTGACCATGCTGG	0.537																																																	0													234.0	217.0	223.0					11																	16877407		2200	4294	6494	SO:0001819	synonymous_variant	144100			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.360C>T	11.37:g.16877407G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DK33|B4DWC3|Q86VZ7	Silent	SNP	pfam_Pleckstrin_homology,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.V120	ENST00000355661.3	37	c.360	CCDS31434.1	11																																																																																			PLEKHA7	-	NULL		0.537	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA7	HGNC	protein_coding	OTTHUMT00000387242.2	G	NM_175058		16877407	-1	no_errors	ENST00000448080	ensembl	human	known	70_37	silent	SNP	1.000	A
PLEKHG3	26030	genome.wustl.edu	37	14	65208765	65208765	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:65208765G>A	ENST00000394691.1	+	16	2677	c.2530G>A	c.(2530-2532)Gag>Aag	p.E844K	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.E349K|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.E788K|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.E377K|PLEKHG3_ENST00000492928.1_Intron			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	844							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGACCTGCATGAGCCACTCTT	0.617																																																	0													35.0	40.0	38.0					14																	65208765		2203	4300	6503	SO:0001583	missense	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2530G>A	14.37:g.65208765G>A	ENSP00000378183:p.Glu844Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E844K	ENST00000394691.1	37	c.2530		14	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803867	0.70682	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.64260	0.36;-0.09;1.26;1.27	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000007	T	0.76681	0.4021	L	0.52011	1.625	0.40881	D	0.983995	D;P;D;D	0.76494	0.998;0.946;0.998;0.999	D;P;D;D	0.83275	0.994;0.509;0.99;0.996	T	0.76926	-0.2778	10	0.72032	D	0.01	.	19.4349	0.94788	0.0:0.0:1.0:0.0	.	377;349;844;788	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	K	788;844;377;349	ENSP00000247226:E788K;ENSP00000378183:E844K;ENSP00000450945:E377K;ENSP00000450973:E349K	ENSP00000247226:E788K	E	+	1	0	PLEKHG3	64278518	1.000000	0.71417	0.965000	0.40720	0.772000	0.43724	2.883000	0.48554	2.894000	0.99253	0.655000	0.94253	GAG	PLEKHG3	-	NULL		0.617	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	G	NM_015549		65208765	+1	no_errors	ENST00000394691	ensembl	human	known	70_37	missense	SNP	0.988	A
PLEKHG3	26030	genome.wustl.edu	37	14	65209118	65209118	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:65209118G>C	ENST00000394691.1	+	16	3030	c.2883G>C	c.(2881-2883)aaG>aaC	p.K961N	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.K466N|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.K905N|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.K494N|PLEKHG3_ENST00000492928.1_Intron			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	961							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGGATGGGAAGAGCCCCACTG	0.602																																																	0													37.0	36.0	36.0					14																	65209118		2202	4300	6502	SO:0001583	missense	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2883G>C	14.37:g.65209118G>C	ENSP00000378183:p.Lys961Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.K961N	ENST00000394691.1	37	c.2883		14	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365632	0.24684	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.60672	0.61;0.17;1.49;1.49	4.47	0.0791	0.14414	.	1.324060	0.04931	N	0.456774	T	0.32852	0.0843	N	0.14661	0.345	0.09310	N	1	P;P;P;P	0.41848	0.557;0.557;0.501;0.763	B;B;B;B	0.35971	0.215;0.167;0.081;0.167	T	0.21827	-1.0234	10	0.30854	T	0.27	.	1.4928	0.02460	0.2555:0.1532:0.4352:0.156	.	494;466;961;905	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	N	905;961;494;466	ENSP00000247226:K905N;ENSP00000378183:K961N;ENSP00000450945:K494N;ENSP00000450973:K466N	ENSP00000247226:K905N	K	+	3	2	PLEKHG3	64278871	0.001000	0.12720	0.000000	0.03702	0.069000	0.16628	0.881000	0.28173	0.293000	0.22520	0.655000	0.94253	AAG	PLEKHG3	-	NULL		0.602	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	G	NM_015549		65209118	+1	no_errors	ENST00000394691	ensembl	human	known	70_37	missense	SNP	0.000	C
PLEKHG4	25894	genome.wustl.edu	37	16	67318975	67318975	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:67318975G>C	ENST00000360461.5	+	12	4587	c.2052G>C	c.(2050-2052)caG>caC	p.Q684H	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.Q603H|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.Q684H|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.Q684H	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	684							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		ATCTGGGGCAGAGTCTCAGTG	0.657																																																	0													27.0	28.0	28.0					16																	67318975		2194	4296	6490	SO:0001583	missense	25894			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2052G>C	16.37:g.67318975G>C	ENSP00000353646:p.Gln684His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Q684H	ENST00000360461.5	37	c.2052	CCDS32466.1	16	.	.	.	.	.	.	.	.	.	.	G	9.374	1.071227	0.20147	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	4.48	1.08	0.20341	.	1.226970	0.06542	N	0.743374	T	0.09818	0.0241	N	0.19112	0.55	0.09310	N	1	P;P	0.44946	0.846;0.553	P;B	0.44946	0.465;0.204	T	0.38112	-0.9676	10	0.48119	T	0.1	.	7.7291	0.28777	0.0919:0.3071:0.6009:0.0	.	603;684	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	H	684;684;684;603	ENSP00000353646:Q684H;ENSP00000401118:Q684H;ENSP00000368649:Q684H;ENSP00000398030:Q603H	ENSP00000353646:Q684H	Q	+	3	2	PLEKHG4	65876476	0.963000	0.33076	0.084000	0.20598	0.676000	0.39594	4.003000	0.57061	0.428000	0.26173	-0.175000	0.13238	CAG	PLEKHG4	-	NULL		0.657	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4	HGNC	protein_coding	OTTHUMT00000421395.2	G	NM_015432		67318975	+1	no_errors	ENST00000360461	ensembl	human	known	70_37	missense	SNP	0.185	C
PRDM16	63976	genome.wustl.edu	37	1	3301735	3301735	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:3301735G>A	ENST00000270722.5	+	4	507	c.458G>A	c.(457-459)aGt>aAt	p.S153N	PRDM16_ENST00000378398.3_Missense_Mutation_p.S153N|PRDM16_ENST00000378391.2_Missense_Mutation_p.S153N|PRDM16_ENST00000442529.2_Missense_Mutation_p.S153N|PRDM16_ENST00000511072.1_Missense_Mutation_p.S154N|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Missense_Mutation_p.S154N|PRDM16_ENST00000441472.2_Missense_Mutation_p.S153N			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	153	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GACCTGGGCAGTGAGAAGTTC	0.602			T	EVI1	"""MDS, AML"""																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													84.0	95.0	91.0					1																	3301735		2155	4279	6434	SO:0001583	missense	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.458G>A	1.37:g.3301735G>A	ENSP00000270722:p.Ser153Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.S153N	ENST00000270722.5	37	c.458	CCDS41236.2	1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.198458	0.00299	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722	D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	4.52	-1.6	0.08426	SET domain (2);	0.413243	0.18669	U	0.134512	T	0.62221	0.2410	N	0.04686	-0.185	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.51694	-0.8673	10	0.07325	T	0.83	.	9.9252	0.41487	0.1442:0.6912:0.1646:0.0	.	153;153;153;153	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	N	154;153;153;153;153;154;153	ENSP00000426975:S154N;ENSP00000367651:S153N;ENSP00000407968:S153N;ENSP00000405253:S153N;ENSP00000367643:S153N;ENSP00000421400:S154N;ENSP00000270722:S153N	ENSP00000270722:S153N	S	+	2	0	PRDM16	3291595	0.000000	0.05858	0.005000	0.12908	0.084000	0.17831	0.450000	0.21762	0.055000	0.16094	0.561000	0.74099	AGT	PRDM16	-	smart_SET_dom,pfscan_SET_dom		0.602	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	G	NM_022114		3301735	+1	no_errors	ENST00000270722	ensembl	human	known	70_37	missense	SNP	0.000	A
PRG4	10216	genome.wustl.edu	37	1	186276247	186276247	+	Missense_Mutation	SNP	G	G	A	rs267598237		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:186276247G>A	ENST00000445192.2	+	7	1441	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	PRG4_ENST00000367486.3_Missense_Mutation_p.E423K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.E425K|PRG4_ENST00000367485.4_Missense_Mutation_p.E373K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	466	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACTCCCAAGGAGCCTGCACC	0.657																																																	0													87.0	96.0	93.0					1																	186276247		2203	4299	6502	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1396G>A	1.37:g.186276247G>A	ENSP00000399679:p.Glu466Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.E466K	ENST00000445192.2	37	c.1396	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	-	7.987	0.752489	0.15778	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05513	3.47;3.58;3.43;3.57	3.59	1.57	0.23409	.	2.712260	0.01998	N	0.046032	T	0.07234	0.0183	L	0.38175	1.15	0.09310	N	0.999998	B;B;B;B	0.28713	0.22;0.22;0.141;0.22	B;B;B;B	0.26517	0.07;0.07;0.032;0.07	T	0.39461	-0.9613	9	.	.	.	.	7.9812	0.30185	0.0941:0.1598:0.7461:0.0	.	332;373;466;425	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	K	423;332;425;373;466	ENSP00000356456:E423K;ENSP00000356453:E425K;ENSP00000356455:E373K;ENSP00000399679:E466K	.	E	+	1	0	PRG4	184542870	0.000000	0.05858	0.009000	0.14445	0.029000	0.11900	-0.311000	0.08124	0.149000	0.19098	-0.931000	0.02705	GAG	PRG4	-	NULL		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	G	NM_005807		186276247	+1	no_errors	ENST00000445192	ensembl	human	known	70_37	missense	SNP	0.002	A
PROX1	5629	genome.wustl.edu	37	1	214170608	214170608	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:214170608G>C	ENST00000366958.4	+	2	1338	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	PROX1_ENST00000498508.2_Missense_Mutation_p.E244Q|PROX1_ENST00000261454.4_Missense_Mutation_p.E244Q|PROX1_ENST00000435016.1_Missense_Mutation_p.E244Q	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	244					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		ACAGCAGCTGGAGGACATGCA	0.507																																																	0													43.0	45.0	45.0					1																	214170608		2203	4300	6503	SO:0001583	missense	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.730G>C	1.37:g.214170608G>C	ENSP00000355925:p.Glu244Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.E244Q	ENST00000366958.4	37	c.730	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875840	0.51695	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.38878	0.1057	L	0.41236	1.265	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	T	0.00909	-1.1518	10	0.30854	T	0.27	-4.9611	19.9472	0.97186	0.0:0.0:1.0:0.0	.	244	Q92786	PROX1_HUMAN	Q	244	ENSP00000420283:E244Q;ENSP00000355925:E244Q;ENSP00000400694:E244Q;ENSP00000261454:E244Q	ENSP00000261454:E244Q	E	+	1	0	PROX1	212237231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.727000	0.74764	2.805000	0.96524	0.655000	0.94253	GAG	PROX1	-	pfam_Prox1		0.507	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	G	NM_002763		214170608	+1	no_errors	ENST00000261454	ensembl	human	known	70_37	missense	SNP	1.000	C
PROX1	5629	genome.wustl.edu	37	1	214170875	214170875	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:214170875G>C	ENST00000366958.4	+	2	1605	c.997G>C	c.(997-999)Gaa>Caa	p.E333Q	PROX1_ENST00000498508.2_Missense_Mutation_p.E333Q|PROX1_ENST00000261454.4_Missense_Mutation_p.E333Q|PROX1_ENST00000435016.1_Missense_Mutation_p.E333Q	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	333					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CAACAACAAAGAAAGAGACCA	0.507																																																	0													118.0	116.0	116.0					1																	214170875		2203	4300	6503	SO:0001583	missense	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.997G>C	1.37:g.214170875G>C	ENSP00000355925:p.Glu333Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.E333Q	ENST00000366958.4	37	c.997	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	G	6.005	0.369368	0.11352	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.49	5.49	0.81192	.	0.473661	0.26439	N	0.024365	T	0.36717	0.0977	N	0.17474	0.49	0.45452	D	0.998427	B	0.27316	0.175	B	0.33254	0.16	T	0.15122	-1.0448	10	0.12103	T	0.63	-4.3598	19.3843	0.94550	0.0:0.0:1.0:0.0	.	333	Q92786	PROX1_HUMAN	Q	333	ENSP00000420283:E333Q;ENSP00000355925:E333Q;ENSP00000400694:E333Q;ENSP00000261454:E333Q	ENSP00000261454:E333Q	E	+	1	0	PROX1	212237498	1.000000	0.71417	0.997000	0.53966	0.326000	0.28443	4.991000	0.63883	2.574000	0.86865	0.563000	0.77884	GAA	PROX1	-	pfam_Prox1		0.507	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	G	NM_002763		214170875	+1	no_errors	ENST00000261454	ensembl	human	known	70_37	missense	SNP	1.000	C
PROX1	5629	genome.wustl.edu	37	1	214171342	214171342	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:214171342G>C	ENST00000366958.4	+	2	2072	c.1464G>C	c.(1462-1464)ttG>ttC	p.L488F	PROX1_ENST00000498508.2_Missense_Mutation_p.L488F|PROX1_ENST00000261454.4_Missense_Mutation_p.L488F|PROX1_ENST00000435016.1_Missense_Mutation_p.L488F	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	488					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCCTTCCCTTGATGGCCTATC	0.602																																																	0													79.0	89.0	86.0					1																	214171342		2203	4300	6503	SO:0001583	missense	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1464G>C	1.37:g.214171342G>C	ENSP00000355925:p.Leu488Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.L488F	ENST00000366958.4	37	c.1464	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905617	0.33628	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.57907	0.42;0.37;0.42;0.42	5.71	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.67192	0.2867	M	0.77820	2.39	0.50467	D	0.999875	D	0.76494	0.999	D	0.68483	0.958	T	0.69483	-0.5133	10	0.66056	D	0.02	-3.2489	5.6386	0.17550	0.0755:0.2237:0.5808:0.12	.	488	Q92786	PROX1_HUMAN	F	60;488;488;488;488	ENSP00000420283:L488F;ENSP00000355925:L488F;ENSP00000400694:L488F;ENSP00000261454:L488F	ENSP00000261454:L488F	L	+	3	2	PROX1	212237965	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.155000	0.50700	1.390000	0.46547	0.655000	0.94253	TTG	PROX1	-	pfam_Prox1		0.602	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	G	NM_002763		214171342	+1	no_errors	ENST00000261454	ensembl	human	known	70_37	missense	SNP	1.000	C
PRR12	57479	genome.wustl.edu	37	19	50098327	50098327	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:50098327C>G	ENST00000418929.2	+	4	747	c.735C>G	c.(733-735)ttC>ttG	p.F245L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CAACTCAGTTCAACCTGCTGG	0.697																																																	0													10.0	12.0	11.0					19																	50098327		1900	4002	5902	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.735C>G	19.37:g.50098327C>G	ENSP00000394510:p.Phe245Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PB06|Q8N4J6	Missense_Mutation	SNP	NULL	p.F245L	ENST00000418929.2	37	c.735	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	C	12.20	1.868058	0.32977	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.63	2.59	0.31030	.	.	.	.	.	T	0.71187	0.3310	.	.	.	0.33963	D	0.645824	D	0.67145	0.996	D	0.73380	0.98	T	0.78229	-0.2285	7	0.59425	D	0.04	.	10.6641	0.45719	0.0:0.8938:0.0:0.1062	.	245	Q9ULL5-3	.	L	245	.	ENSP00000394510:F245L	F	+	3	2	PRR12	54790139	0.996000	0.38824	1.000000	0.80357	0.961000	0.63080	1.058000	0.30504	2.056000	0.61249	0.563000	0.77884	TTC	PRR12	-	NULL		0.697	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	C	NM_020719		50098327	+1	no_errors	ENST00000418929	ensembl	human	novel	70_37	missense	SNP	1.000	G
PRR7	80758	genome.wustl.edu	37	5	176882210	176882210	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:176882210G>C	ENST00000323249.3	+	3	632	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	PRR7_ENST00000502922.1_Missense_Mutation_p.E48Q|PRR7_ENST00000510492.1_Missense_Mutation_p.E48Q	NM_030567.4	NP_085044.2	Q8TB68	PRR7_HUMAN	proline rich 7 (synaptic)	48						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)						all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGACTGCGCGAGCAGAACCT	0.716																																																	0													22.0	21.0	21.0					5																	176882210		2193	4287	6480	SO:0001583	missense	80758			BC021240	CCDS4419.1	5q35.3	2005-01-20			ENSG00000131188	ENSG00000131188			28130	protein-coding gene	gene with protein product						15629447	Standard	NM_030567		Approved	MGC10772	uc003mgw.2	Q8TB68	OTTHUMG00000130861	ENST00000323249.3:c.142G>C	5.37:g.176882210G>C	ENSP00000327168:p.Glu48Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WU53|Q9BTA7	Missense_Mutation	SNP	pfam_Uncharacterised_WW-bd	p.E48Q	ENST00000323249.3	37	c.142	CCDS4419.1	5	.	.	.	.	.	.	.	.	.	.	g	19.63	3.862912	0.71949	.	.	ENSG00000131188	ENST00000507881;ENST00000323249;ENST00000502922;ENST00000510492;ENST00000355386	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	3.58	3.58	0.41010	.	0.000000	0.64402	D	0.000002	T	0.81327	0.4799	L	0.47190	1.495	0.48395	D	0.999647	D	0.89917	1.0	D	0.91635	0.999	D	0.83398	0.0021	10	0.66056	D	0.02	-7.7987	14.1207	0.65184	0.0:0.0:1.0:0.0	.	48	Q8TB68	PRR7_HUMAN	Q	48	ENSP00000426601:E48Q;ENSP00000327168:E48Q;ENSP00000420872:E48Q;ENSP00000421039:E48Q	ENSP00000327168:E48Q	E	+	1	0	PRR7	176814816	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.167000	0.89668	1.828000	0.53243	0.486000	0.48141	GAG	PRR7	-	pfam_Uncharacterised_WW-bd		0.716	PRR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR7	HGNC	protein_coding	OTTHUMT00000253435.1	G	NM_030567		176882210	+1	no_errors	ENST00000323249	ensembl	human	known	70_37	missense	SNP	1.000	C
PTGDR	5729	genome.wustl.edu	37	14	52735042	52735042	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:52735042C>T	ENST00000306051.2	+	1	612	c.510C>T	c.(508-510)ggC>ggT	p.G170G	PTGDR_ENST00000553372.1_Silent_p.G170G	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	170					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CTTTCATGGGCTTCGGGAAGT	0.627																																																	0													81.0	80.0	80.0					14																	52735042		2203	4300	6503	SO:0001819	synonymous_variant	5729			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.510C>T	14.37:g.52735042C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	G3V5L3|Q13250|Q13251|Q1ZZ52	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt	p.G170	ENST00000306051.2	37	c.510	CCDS9707.1	14																																																																																			PTGDR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostanoid_rcpt		0.627	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDR	HGNC	protein_coding	OTTHUMT00000276889.1	C	NM_000953		52735042	+1	no_errors	ENST00000306051	ensembl	human	known	70_37	silent	SNP	1.000	T
PTPRB	5787	genome.wustl.edu	37	12	70954692	70954692	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:70954692G>A	ENST00000261266.5	-	15	3566	c.3537C>T	c.(3535-3537)ctC>ctT	p.L1179L	PTPRB_ENST00000451516.2_Silent_p.L1089L|PTPRB_ENST00000550358.1_Silent_p.L1309L|PTPRB_ENST00000551525.1_Silent_p.L1396L|PTPRB_ENST00000550857.1_Silent_p.L1089L|PTPRB_ENST00000334414.6_Silent_p.L1397L|PTPRB_ENST00000538708.1_Silent_p.L1089L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1179	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGGACCCCCTGAGATGACTCA	0.453																																																	0													109.0	99.0	102.0					12																	70954692		1871	4095	5966	SO:0001819	synonymous_variant	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3537C>T	12.37:g.70954692G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.L1397	ENST00000261266.5	37	c.4191	CCDS44944.1	12																																																																																			PTPRB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.453	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	G			70954692	-1	no_errors	ENST00000334414	ensembl	human	known	70_37	silent	SNP	1.000	A
PTPRT	11122	genome.wustl.edu	37	20	40727169	40727169	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:40727169G>A	ENST00000373187.1	-	27	3737	c.3738C>T	c.(3736-3738)ttC>ttT	p.F1246F	PTPRT_ENST00000373193.3_Silent_p.F1249F|PTPRT_ENST00000356100.2_Silent_p.F1255F|PTPRT_ENST00000373184.1_Silent_p.F1256F|PTPRT_ENST00000373190.1_Silent_p.F1245F|PTPRT_ENST00000373198.4_Silent_p.F1265F|PTPRT_ENST00000373201.1_Silent_p.F1236F			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1246	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGTGACCACGAAGGCGGCAG	0.517																																																	0													67.0	72.0	71.0					20																	40727169		2098	4245	6343	SO:0001819	synonymous_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3738C>T	20.37:g.40727169G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.F1268	ENST00000373187.1	37	c.3804	CCDS42874.1	20																																																																																			PTPRT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.517	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	G			40727169	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	silent	SNP	0.976	A
PYROXD1	79912	genome.wustl.edu	37	12	21621553	21621553	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:21621553G>A	ENST00000240651.9	+	12	1422	c.1368G>A	c.(1366-1368)atG>atA	p.M456I	PYROXD1_ENST00000538582.1_Missense_Mutation_p.M385I	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	456							oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						ATGGACGAATGATGGGAGCTG	0.368																																																	0													88.0	81.0	84.0					12																	21621553		2203	4300	6503	SO:0001583	missense	79912			AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.1368G>A	12.37:g.21621553G>A	ENSP00000240651:p.Met456Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKI6|B3KWN8|Q9H6P1	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase	p.M456I	ENST00000240651.9	37	c.1368	CCDS31755.1	12	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131462	0.56828	.	.	ENSG00000121350	ENST00000536935;ENST00000240651;ENST00000538582	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	L	0.43152	1.355	0.80722	D	1	B	0.24721	0.11	B	0.22880	0.042	T	0.50792	-0.8786	9	0.21014	T	0.42	.	17.3738	0.87386	0.0:0.0:1.0:0.0	.	456	Q8WU10	PYRD1_HUMAN	I	162;456;385	.	ENSP00000240651:M456I	M	+	3	0	PYROXD1	21512820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.678000	0.84035	2.391000	0.81399	0.563000	0.77884	ATG	PYROXD1	-	NULL		0.368	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD1	HGNC	protein_coding	OTTHUMT00000402363.1	G	NM_024854		21621553	+1	no_errors	ENST00000240651	ensembl	human	known	70_37	missense	SNP	1.000	A
RAB35	11021	genome.wustl.edu	37	12	120541722	120541722	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:120541722G>A	ENST00000229340.5	-	3	323	c.135C>T	c.(133-135)ttC>ttT	p.F45F	RAB35_ENST00000534951.1_Silent_p.F45F	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	45					antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		TCCGGATCTTGAAATCCACTC	0.617																																																	0													96.0	108.0	104.0					12																	120541722		2201	4300	6501	SO:0001819	synonymous_variant	11021			X79781	CCDS41846.1, CCDS53836.1	12q24	2008-07-28			ENSG00000111737	ENSG00000111737		"""RAB, member RAS oncogene"""	9774	protein-coding gene	gene with protein product		604199					Standard	NM_001167606		Approved	H-ray	uc009zww.2	Q15286	OTTHUMG00000169159	ENST00000229340.5:c.135C>T	12.37:g.120541722G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6E0|B4E390	Nonsense_Mutation	SNP	NULL	p.Q83*	ENST00000229340.5	37	c.247	CCDS41846.1	12																																																																																			RAB35	-	NULL		0.617	RAB35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB35	HGNC	protein_coding	OTTHUMT00000402599.2	G			120541722	-1	no_errors	ENST00000544304	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RANBP6	26953	genome.wustl.edu	37	9	6013755	6013755	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:6013755C>G	ENST00000259569.5	-	1	1863	c.1853G>C	c.(1852-1854)aGa>aCa	p.R618T	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	618					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TTTACACATTCTAGCCCATGC	0.393																																																	0													148.0	151.0	150.0					9																	6013755		2203	4300	6503	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1853G>C	9.37:g.6013755C>G	ENSP00000259569:p.Arg618Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.R618T	ENST00000259569.5	37	c.1853	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235638	0.58886	.	.	ENSG00000137040	ENST00000259569	T	0.22945	1.93	4.11	4.11	0.48088	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.61515	0.2353	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.71603	-0.4543	10	0.42905	T	0.14	-8.4697	14.2719	0.66157	0.0:1.0:0.0:0.0	.	206;618	B4DTX6;O60518	.;RNBP6_HUMAN	T	618	ENSP00000259569:R618T	ENSP00000259569:R618T	R	-	2	0	RANBP6	6003755	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.389000	0.79806	2.293000	0.77203	0.650000	0.86243	AGA	RANBP6	-	superfamily_ARM-type_fold		0.393	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	C	NM_012416		6013755	-1	no_errors	ENST00000259569	ensembl	human	known	70_37	missense	SNP	1.000	G
RAP2B	5912	genome.wustl.edu	37	3	152880788	152880788	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:152880788C>T	ENST00000323534.2	+	1	760	c.306C>T	c.(304-306)cgC>cgT	p.R102R	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	102					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGATCATCCGCGTGAAGCGGT	0.622																																																	0													97.0	84.0	88.0					3																	152880788		2203	4300	6503	SO:0001819	synonymous_variant	5912				CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"""Ras-related protein RAP-2B"", ""small GTP binding protein"", ""Ras family small GTP binding protein RAP2B"""	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.306C>T	3.37:g.152880788C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P17964|Q96EG5|Q9CXG0	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R102	ENST00000323534.2	37	c.306	CCDS3170.1	3																																																																																			RAP2B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.622	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2B	HGNC	protein_coding	OTTHUMT00000356707.1	C	NM_002886		152880788	+1	no_errors	ENST00000323534	ensembl	human	known	70_37	silent	SNP	1.000	T
RASSF2	9770	genome.wustl.edu	37	20	4764948	4764948	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:4764948C>G	ENST00000379400.3	-	12	1147	c.952G>C	c.(952-954)Gag>Cag	p.E318Q	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.E318Q	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	318	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TCGGCTATCTCCTCCAGCCTC	0.592																																					Melanoma(158;1891 3343 50738)												0													118.0	104.0	109.0					20																	4764948		2203	4300	6503	SO:0001583	missense	9770			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.952G>C	20.37:g.4764948C>G	ENSP00000368710:p.Glu318Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.E318Q	ENST00000379400.3	37	c.952	CCDS13083.1	20	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914485	0.33815	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.10477	2.87;2.87	5.21	5.21	0.72293	SARAH (1);	0.340069	0.35466	N	0.003196	T	0.05318	0.0141	N	0.11064	0.09	0.44201	D	0.997024	P	0.42827	0.791	B	0.35240	0.198	T	0.47032	-0.9148	10	0.09084	T	0.74	.	15.5925	0.76543	0.0:1.0:0.0:0.0	.	318	P50749	RASF2_HUMAN	Q	318	ENSP00000368710:E318Q;ENSP00000368684:E318Q	ENSP00000368684:E318Q	E	-	1	0	RASSF2	4712948	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	5.123000	0.64703	2.708000	0.92522	0.655000	0.94253	GAG	RASSF2	-	pfscan_SARAH		0.592	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF2	HGNC	protein_coding	OTTHUMT00000077828.1	C	NM_014737		4764948	-1	no_errors	ENST00000379376	ensembl	human	known	70_37	missense	SNP	1.000	G
RASSF5	83593	genome.wustl.edu	37	1	206758446	206758446	+	Intron	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:206758446C>T	ENST00000355294.4	+	5	1045				RASSF5_ENST00000491368.1_Intron|RASSF5_ENST00000304534.8_Intron|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000367117.3_Intron	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CCAATCCTTTCCCGCAAGCCT	0.517																																					GBM(162;656 1984 11916 22872 31529)												0																																										SO:0001627	intron_variant	83593			BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.989-66C>T	1.37:g.206758446C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	RNA	SNP	-	NULL	ENST00000355294.4	37	NULL	CCDS30998.1	1																																																																																			RASSF5	-	-		0.517	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF5	HGNC	protein_coding	OTTHUMT00000088469.1	C	NM_031437		206758446	+1	no_errors	ENST00000481486	ensembl	human	putative	70_37	rna	SNP	0.014	T
RBM26	64062	genome.wustl.edu	37	13	79942903	79942903	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:79942903C>T	ENST00000438737.2	-	6	1297	c.857G>A	c.(856-858)aGa>aAa	p.R286K	RBM26_ENST00000438724.1_Missense_Mutation_p.R286K|RBM26_ENST00000461008.1_5'Flank|RBM26_ENST00000267229.7_Missense_Mutation_p.R286K			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	286					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CATGGGTGGTCTTACGTAAGA	0.383																																																	0													184.0	168.0	173.0					13																	79942903		2203	4300	6503	SO:0001583	missense	64062			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.857G>A	13.37:g.79942903C>T	ENSP00000387531:p.Arg286Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.R286K	ENST00000438737.2	37	c.857		13	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883051	0.91740	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.44482	0.93;0.92	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	L	0.48642	1.525	0.58432	D	0.999998	D;D;P	0.60575	0.988;0.982;0.494	D;D;B	0.79108	0.992;0.952;0.166	T	0.51395	-0.8711	9	.	.	.	-16.8263	20.6525	0.99598	0.0:1.0:0.0:0.0	.	286;286;286	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	K	286;287;286;286	ENSP00000267229:R286K;ENSP00000390222:R286K	.	R	-	2	0	RBM26	78840904	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.558000	0.67319	2.890000	0.99128	0.585000	0.79938	AGA	RBM26	-	NULL		0.383	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	HGNC	protein_coding	OTTHUMT00000045373.4	C	NM_022118		79942903	-1	no_errors	ENST00000327303	ensembl	human	known	70_37	missense	SNP	1.000	T
RHBDF1	64285	genome.wustl.edu	37	16	114768	114768	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:114768G>C	ENST00000262316.6	-	3	319	c.177C>G	c.(175-177)atC>atG	p.I59M	RHBDF1_ENST00000454039.2_Missense_Mutation_p.I59M	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	59					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GGGGTGAAGAGATGTGGGCTG	0.637																																																	0													101.0	104.0	103.0					16																	114768		2203	4300	6503	SO:0001583	missense	64285			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.177C>G	16.37:g.114768G>C	ENSP00000262316:p.Ile59Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.I59M	ENST00000262316.6	37	c.177	CCDS32344.1	16	.	.	.	.	.	.	.	.	.	.	.	5.322	0.244747	0.10077	.	.	ENSG00000007384	ENST00000262316;ENST00000454039;ENST00000338527;ENST00000450643;ENST00000420545;ENST00000419764	T;T;D	0.85955	0.76;-0.11;-2.05	5.62	-2.5	0.06384	.	0.710054	0.14087	N	0.342301	T	0.72061	0.3414	N	0.22421	0.69	0.09310	N	1	B;B;B	0.19935	0.04;0.029;0.0	B;B;B	0.18263	0.02;0.021;0.002	T	0.59101	-0.7517	10	0.34782	T	0.22	-16.2276	11.0697	0.47995	0.0712:0.6699:0.168:0.0908	.	59;82;59	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	M	59	ENSP00000262316:I59M;ENSP00000392133:I59M;ENSP00000408915:I59M	ENSP00000262316:I59M	I	-	3	3	RHBDF1	54768	0.117000	0.22190	0.002000	0.10522	0.143000	0.21401	-0.156000	0.10100	-0.003000	0.14444	0.655000	0.94253	ATC	RHBDF1	-	NULL		0.637	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDF1	HGNC	protein_coding	OTTHUMT00000134178.2	G	NM_022450		114768	-1	no_errors	ENST00000262316	ensembl	human	known	70_37	missense	SNP	0.016	C
RNF151	146310	genome.wustl.edu	37	16	2017754	2017754	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:2017754G>C	ENST00000569714.1	+	3	186	c.178G>C	c.(178-180)Gag>Cag	p.E60Q	RPS2_ENST00000526522.1_5'Flank|RPS2_ENST00000529806.1_5'Flank|SNHG9_ENST00000459373.1_lincRNA|RPS2_ENST00000343262.4_5'Flank|RNF151_ENST00000569210.2_Intron|RNF151_ENST00000321392.3_Missense_Mutation_p.E59Q	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	60					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2						CTGTAGGAAAGAGGTGAAAAG	0.532																																																	0													67.0	64.0	65.0					16																	2017754		1915	4135	6050	SO:0001583	missense	146310			BC029501	CCDS58405.1	16p13.3	2013-01-09			ENSG00000179580	ENSG00000179580		"""RING-type (C3HC4) zinc fingers"""	23235	protein-coding gene	gene with protein product						12477932	Standard	NM_174903		Approved		uc002cnt.1	Q2KHN1	OTTHUMG00000176852	ENST00000569714.1:c.178G>C	16.37:g.2017754G>C	ENSP00000456566:p.Glu60Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NHS5	Missense_Mutation	SNP	pfam_Ubox_domain,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH,pfscan_Znf_TRAF	p.E60Q	ENST00000569714.1	37	c.178	CCDS58405.1	16	.	.	.	.	.	.	.	.	.	.	g	9.236	1.036961	0.19669	.	.	ENSG00000179580	ENST00000321392	D	0.86164	-2.08	4.73	3.77	0.43336	Zinc finger, RING/FYVE/PHD-type (1);	0.634801	0.15297	N	0.269834	T	0.81631	0.4863	L	0.39467	1.215	0.29999	N	0.816196	B	0.17465	0.022	B	0.23716	0.048	T	0.70699	-0.4800	10	0.18276	T	0.48	-13.7548	12.7767	0.57453	0.0:0.1662:0.8337:0.0	.	60	Q2KHN1	RN151_HUMAN	Q	59	ENSP00000325794:E59Q	ENSP00000325794:E59Q	E	+	1	0	RNF151	1957755	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	1.857000	0.39399	0.979000	0.38497	-0.264000	0.10439	GAG	RNF151	-	pfam_Ubox_domain		0.532	RNF151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF151	HGNC	protein_coding	OTTHUMT00000434030.1	G	NM_174903		2017754	+1	no_errors	ENST00000569714	ensembl	human	known	70_37	missense	SNP	0.966	C
ROCK1	6093	genome.wustl.edu	37	18	18586468	18586468	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr18:18586468G>A	ENST00000399799.2	-	16	2669	c.1729C>T	c.(1729-1731)Cag>Tag	p.Q577*		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	577	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|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 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)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GACTCTAACTGACTAATTGAC	0.378																																																	0													160.0	142.0	148.0					18																	18586468		2203	4300	6503	SO:0001587	stop_gained	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1729C>T	18.37:g.18586468G>A	ENSP00000382697:p.Gln577*	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ91|Q2KHM4|Q59GZ4	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,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.Q577*	ENST00000399799.2	37	c.1729	CCDS11870.2	18	.	.	.	.	.	.	.	.	.	.	G	47	13.577130	0.99750	.	.	ENSG00000067900	ENST00000399799	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	19.4568	0.94895	0.0:0.0:1.0:0.0	.	.	.	.	X	577	.	ENSP00000382697:Q577X	Q	-	1	0	ROCK1	16840466	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.263000	0.95617	2.832000	0.97577	0.655000	0.94253	CAG	ROCK1	-	pirsf_Rho-assoc_coiled-coil_kin		0.378	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	G	NM_005406		18586468	-1	no_errors	ENST00000399799	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RPS23	6228	genome.wustl.edu	37	5	81573526	81573526	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:81573526G>A	ENST00000296674.8	-	2	403	c.150C>T	c.(148-150)atC>atT	p.I50I	ATP6AP1L_ENST00000380167.4_5'Flank|RPS23_ENST00000510019.1_Silent_p.I50I|RPS23_ENST00000510210.1_Silent_p.I50I|RPS23_ENST00000512493.1_Silent_p.I50I|RPS23_ENST00000511844.1_Silent_p.I50I|RPS23_ENST00000507980.1_Silent_p.I50I|RPS23_ENST00000503605.1_5'UTR	NM_001025.4	NP_001016.1	P62266	RS23_HUMAN	ribosomal protein S23	50					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			prostate(1)	1		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)		TTTCCAGCACGATTCCTTTTG	0.408																																																	0													160.0	157.0	158.0					5																	81573526		1885	4116	6001	SO:0001819	synonymous_variant	6228			AB007158	CCDS47241.1	5q14.2	2013-05-09			ENSG00000186468	ENSG00000186468		"""S ribosomal proteins"""	10410	protein-coding gene	gene with protein product		603683				9582194	Standard	NM_001025		Approved	S23	uc003khu.3	P62266	OTTHUMG00000162557	ENST00000296674.8:c.150C>T	5.37:g.81573526G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P39028|Q6IB08	Silent	SNP	pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc	p.I50	ENST00000296674.8	37	c.150	CCDS47241.1	5																																																																																			RPS23	-	pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc		0.408	RPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS23	HGNC	protein_coding	OTTHUMT00000369546.2	G	NM_001025		81573526	-1	no_errors	ENST00000296674	ensembl	human	known	70_37	silent	SNP	0.827	A
RPS23	6228	genome.wustl.edu	37	5	81573540	81573540	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:81573540G>A	ENST00000296674.8	-	2	389	c.136C>T	c.(136-138)Cat>Tat	p.H46Y	ATP6AP1L_ENST00000380167.4_5'Flank|RPS23_ENST00000510019.1_Missense_Mutation_p.H46Y|RPS23_ENST00000510210.1_Missense_Mutation_p.H46Y|RPS23_ENST00000512493.1_Missense_Mutation_p.H46Y|RPS23_ENST00000511844.1_Missense_Mutation_p.H46Y|RPS23_ENST00000507980.1_Missense_Mutation_p.H46Y|RPS23_ENST00000503605.1_5'UTR	NM_001025.4	NP_001016.1	P62266	RS23_HUMAN	ribosomal protein S23	46					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			prostate(1)	1		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)		CCTTTTGCATGAGAAGCACCT	0.433																																																	0													159.0	156.0	157.0					5																	81573540		1891	4117	6008	SO:0001583	missense	6228			AB007158	CCDS47241.1	5q14.2	2013-05-09			ENSG00000186468	ENSG00000186468		"""S ribosomal proteins"""	10410	protein-coding gene	gene with protein product		603683				9582194	Standard	NM_001025		Approved	S23	uc003khu.3	P62266	OTTHUMG00000162557	ENST00000296674.8:c.136C>T	5.37:g.81573540G>A	ENSP00000296674:p.His46Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	P39028|Q6IB08	Missense_Mutation	SNP	pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc	p.H46Y	ENST00000296674.8	37	c.136	CCDS47241.1	5	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558532	0.65538	.	.	ENSG00000186468	ENST00000296674;ENST00000510210;ENST00000512493;ENST00000510019;ENST00000507980;ENST00000511844	.	.	.	5.31	5.31	0.75309	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.101940	0.64402	D	0.000003	T	0.73377	0.3579	M	0.90705	3.14	0.80722	D	1	B	0.32382	0.368	B	0.26416	0.069	T	0.78196	-0.2298	9	0.72032	D	0.01	.	18.5607	0.91098	0.0:0.0:1.0:0.0	.	46	P62266	RS23_HUMAN	Y	46	.	ENSP00000296674:H46Y	H	-	1	0	RPS23	81609296	1.000000	0.71417	0.630000	0.29268	0.061000	0.15899	9.679000	0.98649	2.462000	0.83206	0.655000	0.94253	CAT	RPS23	-	pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc		0.433	RPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS23	HGNC	protein_coding	OTTHUMT00000369546.2	G	NM_001025		81573540	-1	no_errors	ENST00000296674	ensembl	human	known	70_37	missense	SNP	1.000	A
RSF1	51773	genome.wustl.edu	37	11	77412845	77412845	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:77412845C>T	ENST00000308488.6	-	6	1731	c.1429G>A	c.(1429-1431)Gac>Aac	p.D477N	RSF1_ENST00000480887.1_Missense_Mutation_p.D225N|RSF1_ENST00000360355.2_Missense_Mutation_p.D446N			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	477					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			ATATTTCTGTCCTTAGAGGGG	0.398																																																	0													122.0	120.0	121.0					11																	77412845		2200	4292	6492	SO:0001583	missense	51773			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1429G>A	11.37:g.77412845C>T	ENSP00000311513:p.Asp477Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.D477N	ENST00000308488.6	37	c.1429	CCDS8253.1	11	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072625	0.55646	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.86432	-2.09;-2.1;-2.08;-2.12;1.32	5.54	5.54	0.83059	.	0.339854	0.25469	N	0.030443	D	0.82724	0.5099	L	0.32530	0.975	0.39327	D	0.965349	P	0.38922	0.651	B	0.35859	0.212	D	0.85159	0.0991	10	0.66056	D	0.02	-3.853	19.0837	0.93194	0.0:1.0:0.0:0.0	.	477	Q96T23	RSF1_HUMAN	N	477;225;446;278;476	ENSP00000311513:D477N;ENSP00000434509:D225N;ENSP00000353511:D446N;ENSP00000432022:D278N;ENSP00000436408:D476N	ENSP00000311513:D477N	D	-	1	0	RSF1	77090493	0.998000	0.40836	0.862000	0.33874	0.967000	0.64934	3.262000	0.51538	2.609000	0.88269	0.655000	0.94253	GAC	RSF1	-	NULL		0.398	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RSF1	HGNC	protein_coding	OTTHUMT00000318075.2	C	NM_016578		77412845	-1	no_errors	ENST00000308488	ensembl	human	known	70_37	missense	SNP	1.000	T
RTN4	57142	genome.wustl.edu	37	2	55252291	55252291	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:55252291G>A	ENST00000337526.6	-	3	3187	c.2944C>T	c.(2944-2946)Cct>Tct	p.P982S	RTN4_ENST00000394611.2_Missense_Mutation_p.P776S|RTN4_ENST00000405240.1_Missense_Mutation_p.P776S|RTN4_ENST00000404909.1_Missense_Mutation_p.P776S|RTN4_ENST00000354474.6_Missense_Mutation_p.P750S|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.P776S|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	982					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GTATCGGAAGGAAGTTTTTTC	0.398																																																	0													138.0	135.0	136.0					2																	55252291		2203	4300	6503	SO:0001583	missense	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2944C>T	2.37:g.55252291G>A	ENSP00000337838:p.Pro982Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.P982S	ENST00000337526.6	37	c.2944	CCDS42684.1	2	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131349	0.37630	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.23	5.26	5.26	0.73747	.	0.638753	0.16163	N	0.226664	T	0.28167	0.0695	M	0.67953	2.075	0.39302	D	0.964925	D	0.56521	0.976	P	0.49922	0.626	T	0.04825	-1.0924	10	0.21014	T	0.42	-6.339	14.8252	0.70107	0.0:0.1866:0.8133:0.0	.	982	Q9NQC3	RTN4_HUMAN	S	776;776;982;776;776;750	ENSP00000384471:P776S;ENSP00000349944:P776S;ENSP00000337838:P982S;ENSP00000378109:P776S;ENSP00000385650:P776S;ENSP00000346465:P750S	ENSP00000337838:P982S	P	-	1	0	RTN4	55105795	1.000000	0.71417	0.996000	0.52242	0.094000	0.18550	1.587000	0.36622	2.460000	0.83146	0.467000	0.42956	CCT	RTN4	-	NULL		0.398	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	HGNC	protein_coding	OTTHUMT00000251484.1	G			55252291	-1	no_errors	ENST00000337526	ensembl	human	known	70_37	missense	SNP	0.978	A
RTN4	57142	genome.wustl.edu	37	2	55253040	55253040	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:55253040G>C	ENST00000337526.6	-	3	2438	c.2195C>G	c.(2194-2196)tCt>tGt	p.S732C	RTN4_ENST00000394611.2_Missense_Mutation_p.S526C|RTN4_ENST00000405240.1_Missense_Mutation_p.S526C|RTN4_ENST00000404909.1_Missense_Mutation_p.S526C|RTN4_ENST00000354474.6_Missense_Mutation_p.S500C|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.S526C|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	732					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AACTAGCTCAGAATGATCAGG	0.383																																																	0													62.0	64.0	63.0					2																	55253040		2203	4299	6502	SO:0001583	missense	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2195C>G	2.37:g.55253040G>C	ENSP00000337838:p.Ser732Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.S732C	ENST00000337526.6	37	c.2195	CCDS42684.1	2	.	.	.	.	.	.	.	.	.	.	G	9.822	1.186117	0.21870	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.19532	2.15;2.15;2.14;2.15;2.15;2.15	5.55	4.67	0.58626	.	0.443469	0.21869	N	0.067907	T	0.19725	0.0474	M	0.62723	1.935	0.21897	N	0.999482	B	0.19583	0.037	B	0.12837	0.008	T	0.18366	-1.0339	10	0.33141	T	0.24	-6.9007	5.955	0.19269	0.0737:0.1285:0.6475:0.1502	.	732	Q9NQC3	RTN4_HUMAN	C	526;526;732;526;526;500	ENSP00000384471:S526C;ENSP00000349944:S526C;ENSP00000337838:S732C;ENSP00000378109:S526C;ENSP00000385650:S526C;ENSP00000346465:S500C	ENSP00000337838:S732C	S	-	2	0	RTN4	55106544	1.000000	0.71417	0.975000	0.42487	0.984000	0.73092	0.653000	0.24902	1.298000	0.44778	0.655000	0.94253	TCT	RTN4	-	NULL		0.383	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	HGNC	protein_coding	OTTHUMT00000251484.1	G			55253040	-1	no_errors	ENST00000337526	ensembl	human	known	70_37	missense	SNP	0.957	C
RYR2	6262	genome.wustl.edu	37	1	237947567	237947567	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:237947567G>A	ENST00000366574.2	+	90	12872	c.12555G>A	c.(12553-12555)aaG>aaA	p.K4185K	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.K4191K|RYR2_ENST00000542537.1_Silent_p.K4169K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4185					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAAAGAGAAGATGGAACTCT	0.517																																																	0													86.0	90.0	89.0					1																	237947567		1987	4187	6174	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12555G>A	1.37:g.237947567G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.K4191	ENST00000366574.2	37	c.12573	CCDS55691.1	1																																																																																			RYR2	-	NULL		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237947567	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	silent	SNP	1.000	A
SART3	9733	genome.wustl.edu	37	12	108942982	108942982	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:108942982G>A	ENST00000228284.3	-	2	555	c.321C>T	c.(319-321)atC>atT	p.I107I	SART3_ENST00000431469.2_Silent_p.I107I|SART3_ENST00000552221.1_5'UTR	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	107					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CATAGACGTTGATAGACAACT	0.438									Porokeratosis																																								0													90.0	77.0	81.0					12																	108942982		2203	4300	6503	SO:0001819	synonymous_variant	9733	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.321C>T	12.37:g.108942982G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Silent	SNP	pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom	p.I107	ENST00000228284.3	37	c.321	CCDS9117.1	12																																																																																			SART3	-	NULL		0.438	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART3	HGNC	protein_coding	OTTHUMT00000404094.1	G			108942982	-1	no_errors	ENST00000228284	ensembl	human	known	70_37	silent	SNP	1.000	A
SCAI	286205	genome.wustl.edu	37	9	127828300	127828300	+	Intron	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:127828300G>A	ENST00000336505.6	-	3	157				SCAI_ENST00000373549.4_Nonsense_Mutation_p.Q46*	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion						negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						ctttccccttgagattgtgaa	0.289																																																	0													80.0	77.0	78.0					9																	127828300		1809	4059	5868	SO:0001627	intron_variant	286205			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.99-10014C>T	9.37:g.127828300G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Nonsense_Mutation	SNP	pfam_DUF3550,pirsf_UCP013022	p.Q46*	ENST00000336505.6	37	c.136	CCDS48017.1	9	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348975	0.41599	.	.	ENSG00000173611	ENST00000373549	.	.	.	0.502	0.502	0.16932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	46	.	ENSP00000362650:Q46X	Q	-	1	0	SCAI	126868121	0.397000	0.25270	0.350000	0.25708	0.590000	0.36582	0.552000	0.23376	0.545000	0.28902	0.121000	0.15741	CAA	SCAI	-	pirsf_UCP013022		0.289	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAI	HGNC	protein_coding	OTTHUMT00000054055.3	G	NM_173690		127828300	-1	no_errors	ENST00000373549	ensembl	human	known	70_37	nonsense	SNP	0.422	A
SCN5A	6331	genome.wustl.edu	37	3	38674567	38674567	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:38674567C>T	ENST00000333535.4	-	2	381	c.232G>A	c.(232-234)Gag>Aag	p.E78K	SCN5A_ENST00000449557.2_Missense_Mutation_p.E78K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E78K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E78K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E78K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E78K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E78K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E78K|SCN5A_ENST00000413689.1_Missense_Mutation_p.E78K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E78K			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	78					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCAGGGGCTCTCCGATGAGC	0.617																																																	0													44.0	46.0	46.0					3																	38674567		1919	4152	6071	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.232G>A	3.37:g.38674567C>T	ENSP00000328968:p.Glu78Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.E78K	ENST00000333535.4	37	c.232	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	9.867	1.197850	0.22037	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96104	-3.81;-3.84;-3.84;-3.85;-3.84;-3.81;-3.84;-3.91;-3.85;-3.84	4.73	3.84	0.44239	.	0.245199	0.41823	D	0.000807	D	0.94238	0.8150	L	0.35854	1.095	0.37122	D	0.900855	B;P;B;P;D;P	0.56035	0.308;0.671;0.442;0.886;0.974;0.93	B;B;B;B;P;P	0.54924	0.134;0.187;0.134;0.396;0.764;0.6	D	0.94813	0.7980	10	0.66056	D	0.02	.	10.0535	0.42230	0.1556:0.6945:0.1499:0.0	.	78;78;78;78;78;78	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	K	78	ENSP00000398962:E78K;ENSP00000398266:E78K;ENSP00000410257:E78K;ENSP00000388797:E78K;ENSP00000397915:E78K;ENSP00000416634:E78K;ENSP00000328968:E78K;ENSP00000399524:E78K;ENSP00000403355:E78K;ENSP00000413996:E78K	ENSP00000328968:E78K	E	-	1	0	SCN5A	38649571	0.996000	0.38824	1.000000	0.80357	0.976000	0.68499	3.057000	0.49931	1.176000	0.42840	0.491000	0.48974	GAG	SCN5A	-	NULL		0.617	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	C	NM_198056		38674567	-1	no_errors	ENST00000333535	ensembl	human	known	70_37	missense	SNP	1.000	T
SCNN1D	6339	genome.wustl.edu	37	1	1223059	1223059	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:1223059G>A	ENST00000338555.2	+	8	2058	c.914G>A	c.(913-915)gGc>gAc	p.G305D	SCNN1D_ENST00000379116.5_Missense_Mutation_p.G469D|SCNN1D_ENST00000325425.8_Missense_Mutation_p.G371D|SCNN1D_ENST00000400928.3_Missense_Mutation_p.G305D			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	305					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CCAGGAGTCGGCCTGGTCCTC	0.701																																																	0													29.0	28.0	29.0					1																	1223059		2187	4292	6479	SO:0001583	missense	6339			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.914G>A	1.37:g.1223059G>A	ENSP00000339504:p.Gly305Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC	p.G469D	ENST00000338555.2	37	c.1406		1	.	.	.	.	.	.	.	.	.	.	G	8.133	0.783484	0.16189	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	4.2	1.08	0.20341	.	0.435724	0.20452	N	0.092078	T	0.46014	0.1371	L	0.47716	1.5	0.09310	N	0.999998	B;B;P	0.48764	0.126;0.288;0.915	B;B;B	0.36608	0.096;0.229;0.217	T	0.38779	-0.9645	10	0.48119	T	0.1	.	6.8686	0.24108	0.1665:0.4072:0.4263:0.0	.	127;305;469	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	D	336;469;305;371;305	ENSP00000368411:G469D;ENSP00000339504:G305D;ENSP00000321594:G371D;ENSP00000383717:G305D	ENSP00000321594:G371D	G	+	2	0	SCNN1D	1212922	0.104000	0.21937	0.046000	0.18839	0.075000	0.17131	0.895000	0.28363	-0.081000	0.12662	0.313000	0.20887	GGC	SCNN1D	-	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC		0.701	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	SCNN1D	HGNC	protein_coding	OTTHUMT00000005802.2	G	NM_002978		1223059	+1	no_errors	ENST00000379116	ensembl	human	known	70_37	missense	SNP	0.310	A
SDHA	6389	genome.wustl.edu	37	5	235338	235338	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:235338G>C	ENST00000264932.6	+	9	1259	c.1144G>C	c.(1144-1146)Ggc>Cgc	p.G382R	SDHA_ENST00000510361.1_Missense_Mutation_p.G334R|SDHA_ENST00000504309.1_Missense_Mutation_p.G382R	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	382					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GCGCCTGCCTGGCATTTCAGA	0.592									Familial Paragangliomas																																								0													63.0	57.0	59.0					5																	235338		2203	4300	6503	SO:0001583	missense	6389	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1144G>C	5.37:g.235338G>C	ENSP00000264932:p.Gly382Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.G382R	ENST00000264932.6	37	c.1144	CCDS3853.1	5	.	.	.	.	.	.	.	.	.	.	N	22.8	4.333661	0.81801	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.69685	-0.42;-0.42;-0.42	5.12	5.12	0.69794	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	D	0.84973	0.5591	M	0.89840	3.065	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.88106	0.2822	10	0.87932	D	0	.	16.4201	0.83755	0.0:0.0:1.0:0.0	.	334;382;382;382;388	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	R	382;237;382;334	ENSP00000264932:G382R;ENSP00000426514:G382R;ENSP00000427703:G334R	ENSP00000264932:G382R	G	+	1	0	SDHA	288338	1.000000	0.71417	0.987000	0.45799	0.588000	0.36517	8.994000	0.93529	2.541000	0.85698	0.557000	0.71058	GGC	SDHA	-	pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg		0.592	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1	G	NM_004168		235338	+1	no_errors	ENST00000264932	ensembl	human	known	70_37	missense	SNP	1.000	C
SEC14L4	284904	genome.wustl.edu	37	22	30890146	30890146	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr22:30890146C>G	ENST00000255858.7	-	7	654	c.571G>C	c.(571-573)Gtt>Ctt	p.V191L	RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000392772.2_Missense_Mutation_p.V137L|SEC14L4_ENST00000540456.1_Missense_Mutation_p.V176L|RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000381982.3_Missense_Mutation_p.V191L	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	191	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CCTCGAATAACAATTAAATTC	0.493																																																	0													97.0	98.0	98.0					22																	30890146		2203	4300	6503	SO:0001583	missense	284904			AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.571G>C	22.37:g.30890146C>G	ENSP00000255858:p.Val191Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A5D6W7|A6NCV4	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.V191L	ENST00000255858.7	37	c.571	CCDS13878.1	22	.	.	.	.	.	.	.	.	.	.	c	2.867	-0.234921	0.05983	.	.	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	5.22	-3.48	0.04739	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.611538	0.17132	N	0.185790	T	0.21509	0.0518	L	0.39397	1.21	0.39044	D	0.960193	B;B;B	0.32543	0.375;0.36;0.041	B;B;B	0.38106	0.265;0.069;0.079	T	0.05209	-1.0899	10	0.46703	T	0.11	1.132	12.3499	0.55143	0.0:0.5092:0.0:0.4908	.	137;176;191	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	L	191;176;137;191	ENSP00000255858:V191L;ENSP00000440848:V176L;ENSP00000376525:V137L;ENSP00000371412:V191L	ENSP00000255858:V191L	V	-	1	0	SEC14L4	29220146	0.000000	0.05858	0.002000	0.10522	0.067000	0.16453	-1.602000	0.02079	-0.769000	0.04620	-1.936000	0.00505	GTT	SEC14L4	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.493	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L4	HGNC	protein_coding	OTTHUMT00000321946.1	C	NM_174977		30890146	-1	no_errors	ENST00000255858	ensembl	human	known	70_37	missense	SNP	0.009	G
SEMA6D	80031	genome.wustl.edu	37	15	48056112	48056112	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:48056112G>A	ENST00000316364.5	+	10	1252	c.813G>A	c.(811-813)gaG>gaA	p.E271E	SEMA6D_ENST00000355997.3_Silent_p.E271E|SEMA6D_ENST00000389432.2_Silent_p.E271E|SEMA6D_ENST00000358066.4_Silent_p.E271E|SEMA6D_ENST00000389428.3_Silent_p.E271E|SEMA6D_ENST00000354744.4_Silent_p.E271E|SEMA6D_ENST00000389433.2_Silent_p.E271E|SEMA6D_ENST00000558816.1_Silent_p.E271E|SEMA6D_ENST00000536845.2_Silent_p.E271E|SEMA6D_ENST00000558014.1_Silent_p.E271E|SEMA6D_ENST00000537942.1_Silent_p.E271E|SEMA6D_ENST00000389425.3_Silent_p.E271E	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	271	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GGGTCCTGGAGAAACACTGGA	0.478																																																	0													156.0	145.0	148.0					15																	48056112		2198	4297	6495	SO:0001819	synonymous_variant	80031			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.813G>A	15.37:g.48056112G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	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.E271	ENST00000316364.5	37	c.813	CCDS32225.1	15																																																																																			SEMA6D	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.478	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	G	NM_024966		48056112	+1	no_errors	ENST00000316364	ensembl	human	known	70_37	silent	SNP	1.000	A
SFN	2810	genome.wustl.edu	37	1	27190424	27190424	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:27190424G>A	ENST00000339276.4	+	1	792	c.721G>A	c.(721-723)Gag>Aag	p.E241K		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGAGGGGGGCGAGGCTCCCCA	0.677																																																	0													32.0	35.0	34.0					1																	27190424		2203	4300	6503	SO:0001583	missense	2810			BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.721G>A	1.37:g.27190424G>A	ENSP00000340989:p.Glu241Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.E241K	ENST00000339276.4	37	c.721	CCDS288.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164432	0.78339	.	.	ENSG00000175793	ENST00000339276;ENST00000538651	T	0.45668	0.89	5.6	5.6	0.85130	14-3-3 domain (1);	0.272836	0.33854	N	0.004499	T	0.46908	0.1417	M	0.68952	2.095	0.43029	D	0.994595	D	0.56968	0.978	B	0.41894	0.369	T	0.55289	-0.8164	10	0.59425	D	0.04	-24.7544	19.2333	0.93849	0.0:0.0:1.0:0.0	.	241	P31947	1433S_HUMAN	K	241;209	ENSP00000340989:E241K	ENSP00000340989:E241K	E	+	1	0	SFN	27063011	1.000000	0.71417	0.966000	0.40874	0.881000	0.50899	6.145000	0.71769	2.648000	0.89879	0.561000	0.74099	GAG	SFN	-	smart_14-3-3_domain,pirsf_14-3-3		0.677	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFN	HGNC	protein_coding	OTTHUMT00000011709.1	G	NM_006142		27190424	+1	no_errors	ENST00000339276	ensembl	human	known	70_37	missense	SNP	1.000	A
SF3A3	10946	genome.wustl.edu	37	1	38444715	38444715	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:38444715G>A	ENST00000373019.4	-	10	1727	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Silent_p.L205L	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	258					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCAAACCCAGAGAAGCCAAC	0.398																																																	0													62.0	65.0	64.0					1																	38444715		2203	4300	6503	SO:0001819	synonymous_variant	10946			U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"""splicing factor 3a, subunit 3, 60kD"""			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.772C>T	1.37:g.38444715G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPT5|Q15460|Q5VT87	Silent	SNP	pfam_DUF3449,pfam_SF3a60_bindingd,pfscan_Znf_C2H2_matrin	p.L258	ENST00000373019.4	37	c.772	CCDS428.1	1																																																																																			SF3A3	-	NULL		0.398	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A3	HGNC	protein_coding	OTTHUMT00000012976.1	G	NM_006802		38444715	-1	no_errors	ENST00000373019	ensembl	human	known	70_37	silent	SNP	1.000	A
SH3KBP1	30011	genome.wustl.edu	37	X	19713767	19713767	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:19713767C>T	ENST00000397821.3	-	5	773	c.483G>A	c.(481-483)gaG>gaA	p.E161E	SH3KBP1_ENST00000379698.4_Silent_p.E124E|SH3KBP1_ENST00000379697.3_Silent_p.E161E	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	161					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						AAATGCCAAGCTCATCCGACT	0.557																																																	0													160.0	132.0	142.0					X																	19713767		2203	4300	6503	SO:0001819	synonymous_variant	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.483G>A	X.37:g.19713767C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.E161	ENST00000397821.3	37	c.483	CCDS14193.1	X																																																																																			SH3KBP1	-	NULL		0.557	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	C	NM_031892		19713767	-1	no_errors	ENST00000397821	ensembl	human	known	70_37	silent	SNP	0.510	T
SIGLEC10	89790	genome.wustl.edu	37	19	51914460	51914460	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:51914460C>G	ENST00000339313.5	-	11	2103	c.1987G>C	c.(1987-1989)Gag>Cag	p.E663Q	SIGLEC10_ENST00000436984.2_Missense_Mutation_p.E520Q|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.E605Q|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.E510Q|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.E568Q|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.E485Q|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.E663Q|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.E420Q|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.E478Q			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	663					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			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)		TGGAGCTCCTCTTGGCTCTCC	0.547																																																	0													181.0	176.0	178.0					19																	51914460		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.1987G>C	19.37:g.51914460C>G	ENSP00000345243:p.Glu663Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	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.E663Q	ENST00000339313.5	37	c.1987	CCDS12832.1	19	.	.	.	.	.	.	.	.	.	.	.	8.127	0.782195	0.16189	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.52057	0.88;2.09;1.49;0.86;1.92;1.7;0.68;1.86;0.86	4.55	3.52	0.40303	.	0.526148	0.15957	N	0.236469	T	0.40645	0.1125	L	0.46741	1.465	0.09310	N	0.999999	B;P;B;B;P;P;B	0.43750	0.226;0.816;0.193;0.292;0.545;0.602;0.004	B;B;B;B;B;B;B	0.42112	0.064;0.376;0.079;0.165;0.165;0.343;0.006	T	0.16988	-1.0384	10	0.36615	T	0.2	.	8.4354	0.32784	0.0:0.8946:0.0:0.1054	.	520;478;568;568;510;605;663	C9JM10;E9PL79;B7ZL04;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	Q	568;485;420;663;510;478;605;520;663	ENSP00000342389:E568Q;ENSP00000396742:E485Q;ENSP00000395475:E420Q;ENSP00000348646:E663Q;ENSP00000408387:E510Q;ENSP00000431444:E478Q;ENSP00000389132:E605Q;ENSP00000414324:E520Q;ENSP00000345243:E663Q	ENSP00000345243:E663Q	E	-	1	0	SIGLEC10	56606272	0.041000	0.20044	0.238000	0.24106	0.118000	0.20060	1.140000	0.31516	1.138000	0.42230	0.650000	0.86243	GAG	SIGLEC10	-	NULL		0.547	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC10	HGNC	protein_coding	OTTHUMT00000384620.2	C	NM_033130		51914460	-1	no_errors	ENST00000339313	ensembl	human	known	70_37	missense	SNP	0.201	G
SIGMAR1	10280	genome.wustl.edu	37	9	34637231	34637231	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:34637231G>C	ENST00000277010.4	-	2	411	c.338C>G	c.(337-339)tCc>tGc	p.S113C	SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000477726.1_Missense_Mutation_p.S113C|SIGMAR1_ENST00000378892.1_Missense_Mutation_p.S24C	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	113					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	GTGGCCGCGGGAGCCCAAGGC	0.652																																																	0													18.0	22.0	21.0					9																	34637231		2180	4277	6457	SO:0001583	missense	10280			BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"""opioid receptor, sigma 1"""	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.338C>G	9.37:g.34637231G>C	ENSP00000277010:p.Ser113Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Missense_Mutation	SNP	pfam_ERG2_sigma1_rcpt-like	p.S113C	ENST00000277010.4	37	c.338	CCDS6562.1	9	.	.	.	.	.	.	.	.	.	.	G	33	5.264993	0.95399	.	.	ENSG00000147955	ENST00000378892;ENST00000277010;ENST00000360710;ENST00000477726	T;T;T	0.66280	-0.2;-0.2;-0.2	5.04	5.04	0.67666	.	0.051523	0.85682	D	0.000000	T	0.72285	0.3441	L	0.43152	1.355	0.50313	D	0.999864	D;D;D;D	0.67145	0.98;0.989;0.996;0.969	D;P;D;P	0.65443	0.911;0.87;0.935;0.794	T	0.74999	-0.3472	10	0.87932	D	0	-25.8201	17.1328	0.86730	0.0:0.0:1.0:0.0	.	113;113;113;93	B4DR71;A2A3U5;Q99720;Q99720-2	.;.;SGMR1_HUMAN;.	C	24;113;79;113	ENSP00000368170:S24C;ENSP00000277010:S113C;ENSP00000420022:S113C	ENSP00000277010:S113C	S	-	2	0	SIGMAR1	34627231	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	9.550000	0.98110	2.610000	0.88304	0.561000	0.74099	TCC	SIGMAR1	-	pfam_ERG2_sigma1_rcpt-like		0.652	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGMAR1	HGNC	protein_coding	OTTHUMT00000052204.1	G	NM_005866		34637231	-1	no_errors	ENST00000277010	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC12A8	84561	genome.wustl.edu	37	3	124837625	124837625	+	Silent	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:124837625C>G	ENST00000393469.4	-	7	949	c.900G>C	c.(898-900)ctG>ctC	p.L300L	SLC12A8_ENST00000314584.7_Silent_p.L53L|RNU6-230P_ENST00000362457.1_RNA|SLC12A8_ENST00000430155.2_Silent_p.L101L|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000469902.1_Silent_p.L300L|SLC12A8_ENST00000423114.2_Silent_p.L329L	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	300					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						TTTCCGCTATCAGGAAGTCAT	0.532																																																	0													50.0	56.0	54.0					3																	124837625		2069	4220	6289	SO:0001819	synonymous_variant	84561				CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.900G>C	3.37:g.124837625C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Silent	SNP	pfam_AA-permease_dom,superfamily_ABC_transptrTM_dom_typ1	p.L329	ENST00000393469.4	37	c.987	CCDS43143.1	3																																																																																			SLC12A8	-	pfam_AA-permease_dom		0.532	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A8	HGNC	protein_coding	OTTHUMT00000355711.4	C	NM_024628		124837625	-1	no_errors	ENST00000423114	ensembl	human	known	70_37	silent	SNP	1.000	G
SLC15A1	6564	genome.wustl.edu	37	13	99361909	99361909	+	Silent	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:99361909C>G	ENST00000376503.5	-	14	1039	c.984G>C	c.(982-984)gtG>gtC	p.V328V		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	328					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GGATGGCGTTCACGGTCTGCA	0.493																																																	0													159.0	133.0	142.0					13																	99361909		2203	4300	6503	SO:0001819	synonymous_variant	6564			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.984G>C	13.37:g.99361909C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VW82	Silent	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.V328	ENST00000376503.5	37	c.984	CCDS9489.1	13																																																																																			SLC15A1	-	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport		0.493	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A1	HGNC	protein_coding	OTTHUMT00000045560.3	C	NM_005073		99361909	-1	no_errors	ENST00000376503	ensembl	human	known	70_37	silent	SNP	0.998	G
SLC16A12	387700	genome.wustl.edu	37	10	91195879	91195879	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:91195879G>C	ENST00000341233.4	-	7	1526	c.1136C>G	c.(1135-1137)tCa>tGa	p.S379*	SLC16A12_ENST00000371790.4_Nonsense_Mutation_p.S409*	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	379						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						ACCAAGCGCTGATGACAAAGA	0.502																																																	0													124.0	101.0	109.0					10																	91195879		2203	4300	6503	SO:0001587	stop_gained	387700				CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.1136C>G	10.37:g.91195879G>C	ENSP00000343022:p.Ser379*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5M9M9|Q5T7J2|Q6ZV76	Nonsense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S409*	ENST00000341233.4	37	c.1226		10	.	.	.	.	.	.	.	.	.	.	G	39	7.682481	0.98431	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	.	.	.	5.74	5.74	0.90152	.	0.070758	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.8429	0.63451	0.0:0.0:0.8474:0.1526	.	.	.	.	X	379;409	.	ENSP00000343022:S379X	S	-	2	0	SLC16A12	91185859	1.000000	0.71417	0.983000	0.44433	0.591000	0.36615	7.871000	0.87180	2.712000	0.92718	0.650000	0.86243	TCA	SLC16A12	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.502	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	SLC16A12	HGNC	protein_coding		G	NM_213606		91195879	-1	no_errors	ENST00000371790	ensembl	human	known	70_37	nonsense	SNP	0.999	C
SLC1A4	6509	genome.wustl.edu	37	2	65217093	65217093	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:65217093G>A	ENST00000234256.3	+	1	559	c.316G>A	c.(316-318)Gat>Aat	p.D106N	SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	106					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CGCCTCGCTCGATGCCAGCTG	0.677																																																	0													9.0	11.0	10.0					2																	65217093		2191	4280	6471	SO:0001583	missense	6509				CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.316G>A	2.37:g.65217093G>A	ENSP00000234256:p.Asp106Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3C0|D6W5F0	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.D106N	ENST00000234256.3	37	c.316	CCDS1879.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.811361	0.96975	.	.	ENSG00000115902	ENST00000448784;ENST00000234256	T	0.60672	0.17	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.73753	2.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.984;0.99	T	0.79734	-0.1679	10	0.87932	D	0	-19.6832	17.2415	0.87014	0.0:0.0:1.0:0.0	.	106;106	P43007;B2R7N6	SATT_HUMAN;.	N	26;106	ENSP00000234256:D106N	ENSP00000234256:D106N	D	+	1	0	SLC1A4	65070597	1.000000	0.71417	0.984000	0.44739	0.945000	0.59286	9.155000	0.94700	2.481000	0.83766	0.555000	0.69702	GAT	SLC1A4	-	pfam_Na-dicarboxylate_symporter		0.677	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A4	HGNC	protein_coding	OTTHUMT00000251726.2	G	NM_003038		65217093	+1	no_errors	ENST00000234256	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC25A12	8604	genome.wustl.edu	37	2	172648021	172648021	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:172648021G>A	ENST00000422440.2	-	15	1562	c.1525C>T	c.(1525-1527)Ctg>Ttg	p.L509L	SLC25A12_ENST00000392592.4_Silent_p.L402L	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	509					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TCATCAGCCAGAAGTAGTTTG	0.423																																																	0													102.0	100.0	101.0					2																	172648021		2203	4300	6503	SO:0001819	synonymous_variant	8604			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1525C>T	2.37:g.172648021G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KR64|Q96AM8	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.L509	ENST00000422440.2	37	c.1525	CCDS33327.1	2																																																																																			SLC25A12	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom		0.423	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	HGNC	protein_coding	OTTHUMT00000259010.2	G	NM_003705		172648021	-1	no_errors	ENST00000422440	ensembl	human	known	70_37	silent	SNP	0.213	A
SLC33A1	9197	genome.wustl.edu	37	3	155551785	155551785	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:155551785C>T	ENST00000392845.3	-	3	1389	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	SLC33A1_ENST00000359479.3_Missense_Mutation_p.E337K			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	337					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACTCCCTCTTCTACCAATTTC	0.368																																																	0													90.0	89.0	89.0					3																	155551785		2203	4300	6503	SO:0001583	missense	9197			D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.1009G>A	3.37:g.155551785C>T	ENSP00000376587:p.Glu337Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5Q2|D3DNK4	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1	p.E337K	ENST00000392845.3	37	c.1009	CCDS3173.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.659751|5.659751	0.96734|0.96734	.|.	.|.	ENSG00000169359|ENSG00000169359	ENST00000392845;ENST00000359479|ENST00000475842	T;T|.	0.80994|.	-1.44;-1.44|.	6.04|6.04	6.04|6.04	0.98038|0.98038	Major facilitator superfamily domain, general substrate transporter (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82572|0.82572	0.5066|0.5066	M|M	0.82132|0.82132	2.575|2.575	0.80722|0.80722	D|D	1|1	D|.	0.56035|.	0.974|.	P|.	0.55615|.	0.78|.	T|T	0.81514|0.81514	-0.0898|-0.0898	10|5	0.59425|.	D|.	0.04|.	-28.5294|-28.5294	20.6396|20.6396	0.99537|0.99537	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	337|.	O00400|.	ACATN_HUMAN|.	K|K	337|56	ENSP00000376587:E337K;ENSP00000352456:E337K|.	ENSP00000352456:E337K|.	E|R	-|-	1|2	0|0	SLC33A1|SLC33A1	157034479|157034479	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.711000|7.711000	0.84669|0.84669	2.881000|2.881000	0.98747|0.98747	0.650000|0.650000	0.86243|0.86243	GAA|AGA	SLC33A1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1		0.368	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SLC33A1	HGNC	protein_coding	OTTHUMT00000351130.3	C	NM_004733		155551785	-1	no_errors	ENST00000359479	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC38A10	124565	genome.wustl.edu	37	17	79234147	79234147	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:79234147G>A	ENST00000374759.3	-	11	1562	c.1179C>T	c.(1177-1179)acC>acT	p.T393T	SLC38A10_ENST00000288439.5_Silent_p.T393T|SLC38A10_ENST00000546352.1_5'Flank	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	393					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CAGACAGTGTGGTGACAGTGC	0.682																																																	0													29.0	33.0	32.0					17																	79234147		2197	4299	6496	SO:0001819	synonymous_variant	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1179C>T	17.37:g.79234147G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	pfam_AA_transpt_TM	p.T393	ENST00000374759.3	37	c.1179	CCDS42397.1	17																																																																																			SLC38A10	-	NULL		0.682	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	HGNC	protein_coding	OTTHUMT00000397747.1	G	NM_138570		79234147	-1	no_errors	ENST00000374759	ensembl	human	known	70_37	silent	SNP	0.913	A
SLC38A7	55238	genome.wustl.edu	37	16	58712778	58712778	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:58712778G>A	ENST00000570101.1	-	3	1174	c.291C>T	c.(289-291)atC>atT	p.I97I	SLC38A7_ENST00000564100.1_Silent_p.I97I|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Silent_p.I97I|SLC38A7_ENST00000564010.1_Silent_p.I8I			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	97					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CAAGGCCACTGATGATGAAAA	0.577																																																	0													127.0	82.0	97.0					16																	58712778		2198	4300	6498	SO:0001819	synonymous_variant	55238			BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.291C>T	16.37:g.58712778G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53GJ9|Q9H9I5	Silent	SNP	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	p.I97	ENST00000570101.1	37	c.291	CCDS10800.1	16																																																																																			SLC38A7	-	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease		0.577	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC38A7	HGNC	protein_coding	OTTHUMT00000422206.2	G	NM_018231		58712778	-1	no_errors	ENST00000219320	ensembl	human	known	70_37	silent	SNP	1.000	A
ERH	2079	genome.wustl.edu	37	14	69864951	69864951	+	5'UTR	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:69864951C>G	ENST00000557016.1	-	0	393				SLC39A9_ENST00000031146.4_5'Flank|ERH_ENST00000555373.1_5'UTR|SLC39A9_ENST00000556605.1_5'Flank|SLC39A9_ENST00000336643.5_5'Flank|ERH_ENST00000216520.6_5'UTR|SLC39A9_ENST00000557046.1_5'Flank	NM_004450.2	NP_004441.1	P84090	ERH_HUMAN	enhancer of rudimentary homolog (Drosophila)						cell cycle (GO:0007049)|nucleobase-containing compound metabolic process (GO:0006139)|osteoblast differentiation (GO:0001649)|pyrimidine nucleoside metabolic process (GO:0006213)	membrane (GO:0016020)|midbody (GO:0030496)	poly(A) RNA binding (GO:0044822)								all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507)		TTCTCACCATCGCGCCAAACT	0.652																																																	0													30.0	31.0	31.0					14																	69864951		2203	4300	6503	SO:0001623	5_prime_UTR_variant	55334			BC014301	CCDS9794.1	14q24.1	2011-05-18	2001-11-28		ENSG00000100632	ENSG00000100632			3447	protein-coding gene	gene with protein product		601191	"""enhancer of rudimentary (Drosophila) homolog"""			8786099, 9074495	Standard	NM_004450		Approved	DROER	uc001xlc.2	P84090		ENST00000557016.1:c.-1G>C	14.37:g.69864951C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5H2|P70659|Q14259	RNA	SNP	-	NULL	ENST00000557016.1	37	NULL	CCDS9794.1	14																																																																																			SLC39A9	-	-		0.652	ERH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A9	HGNC	protein_coding	OTTHUMT00000412990.1	C	NM_004450		69864951	+1	no_errors	ENST00000556125	ensembl	human	known	70_37	rna	SNP	1.000	G
SLC9A7	84679	genome.wustl.edu	37	X	46541920	46541920	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:46541920G>A	ENST00000328306.4	-	2	401	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	126					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GATTTGTCACGGCCACTGGTA	0.478																																					Pancreas(118;454 1696 1930 13865 39976)												0													66.0	49.0	55.0					X																	46541920		2203	4300	6503	SO:0001583	missense	84679			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.376C>T	X.37:g.46541920G>A	ENSP00000330320:p.Arg126Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O75827|Q5JXP9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.R126C	ENST00000328306.4	37	c.376	CCDS14269.1	X	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220636	0.79464	.	.	ENSG00000065923	ENST00000328306	T	0.55930	0.49	5.96	5.96	0.96718	Cation/H+ exchanger (1);	0.476626	0.23178	N	0.051044	T	0.47581	0.1453	N	0.08118	0	0.42268	D	0.992048	D	0.54601	0.967	P	0.56788	0.806	T	0.54470	-0.8289	10	0.52906	T	0.07	.	12.6988	0.57020	0.0765:0.0:0.9235:0.0	.	126	Q96T83	SL9A7_HUMAN	C	126	ENSP00000330320:R126C	ENSP00000330320:R126C	R	-	1	0	SLC9A7	46426864	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	6.368000	0.73104	2.524000	0.85096	0.600000	0.82982	CGT	SLC9A7	-	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6		0.478	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A7	HGNC	protein_coding	OTTHUMT00000056370.1	G	NM_032591		46541920	-1	no_errors	ENST00000328306	ensembl	human	known	70_37	missense	SNP	1.000	A
SLFN11	91607	genome.wustl.edu	37	17	33690789	33690789	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:33690789G>C	ENST00000394566.1	-	4	310	c.38C>G	c.(37-39)tCt>tGt	p.S13C	SLFN11_ENST00000308377.4_Missense_Mutation_p.S13C	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	13					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTCTGGGTAAGATGGTTCCAC	0.413																																																	0													64.0	69.0	67.0					17																	33690789		2201	4300	6501	SO:0001583	missense	91607			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.38C>G	17.37:g.33690789G>C	ENSP00000378067:p.Ser13Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.S13C	ENST00000394566.1	37	c.38	CCDS11294.1	17	.	.	.	.	.	.	.	.	.	.	G	13.15	2.149968	0.37923	.	.	ENSG00000172716	ENST00000308377;ENST00000394566;ENST00000430814;ENST00000441608;ENST00000427966	T;T;T;T;T	0.25250	4.43;4.43;1.81;2.15;1.81	4.0	3.03	0.35002	.	0.227157	0.22695	N	0.056772	T	0.41743	0.1172	M	0.71581	2.175	0.09310	N	1	D	0.76494	0.999	P	0.62014	0.897	T	0.14952	-1.0454	10	0.56958	D	0.05	.	7.3603	0.26742	0.1201:0.0:0.8799:0.0	.	13	Q7Z7L1	SLN11_HUMAN	C	13	ENSP00000312402:S13C;ENSP00000378067:S13C;ENSP00000397454:S13C;ENSP00000393615:S13C;ENSP00000395140:S13C	ENSP00000312402:S13C	S	-	2	0	SLFN11	30714902	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.458000	0.06737	0.901000	0.36495	0.655000	0.94253	TCT	SLFN11	-	NULL		0.413	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN11	HGNC	protein_coding	OTTHUMT00000256480.1	G	NM_152270		33690789	-1	no_errors	ENST00000308377	ensembl	human	known	70_37	missense	SNP	0.000	C
SLITRK5	26050	genome.wustl.edu	37	13	88329227	88329227	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:88329227G>C	ENST00000325089.6	+	2	1803	c.1584G>C	c.(1582-1584)ttG>ttC	p.L528F	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L287F	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	528					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCTCTGGCTTGACCCTCCTCA	0.522																																																	0													69.0	71.0	70.0					13																	88329227		2203	4300	6503	SO:0001583	missense	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1584G>C	13.37:g.88329227G>C	ENSP00000366283:p.Leu528Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L528F	ENST00000325089.6	37	c.1584	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	G	11.66	1.703449	0.30232	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.70749	-0.51;-0.51	5.01	3.1	0.35709	.	0.084915	0.47455	D	0.000227	T	0.81945	0.4930	M	0.80332	2.49	0.44175	D	0.996987	P;B	0.37370	0.592;0.363	P;P	0.54590	0.756;0.58	T	0.81984	-0.0682	9	.	.	.	-10.4205	14.4114	0.67117	0.0:0.2993:0.7007:0.0	.	287;528	B4DSH5;O94991	.;SLIK5_HUMAN	F	528;287	ENSP00000366283:L528F;ENSP00000442244:L287F	.	L	+	3	2	SLITRK5	87127228	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.295000	0.19065	1.053000	0.40415	0.561000	0.74099	TTG	SLITRK5	-	smart_Leu-rich_rpt_typical-subtyp		0.522	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	G			88329227	+1	no_errors	ENST00000325089	ensembl	human	known	70_37	missense	SNP	0.999	C
SMARCAL1	50485	genome.wustl.edu	37	2	217347643	217347643	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:217347643G>C	ENST00000357276.4	+	18	3138	c.2808G>C	c.(2806-2808)caG>caC	p.Q936H	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.Q936H|AC098820.4_ENST00000414135.1_RNA|AC098820.3_ENST00000453157.1_RNA	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	936					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CCAGTCCACAGAAGAAAAGGA	0.418									Schimke Immuno-Osseous Dysplasia																																								0													100.0	111.0	107.0					2																	217347643		2203	4300	6503	SO:0001583	missense	50485	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2808G>C	2.37:g.217347643G>C	ENSP00000349823:p.Gln936His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q936H	ENST00000357276.4	37	c.2808	CCDS2403.1	2	.	.	.	.	.	.	.	.	.	.	G	6.334	0.429676	0.11987	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;D	0.85955	-2.03;-2.03;-2.05	4.34	-5.87	0.02297	.	1.392810	0.04514	N	0.383423	T	0.64549	0.2608	N	0.08118	0	0.09310	N	1	P	0.34724	0.465	B	0.31751	0.135	T	0.58601	-0.7608	10	0.46703	T	0.11	0.5699	2.5525	0.04752	0.3441:0.3918:0.1269:0.1372	.	936	Q9NZC9	SMAL1_HUMAN	H	936;936;778	ENSP00000349823:Q936H;ENSP00000350940:Q936H;ENSP00000375974:Q778H	ENSP00000349823:Q936H	Q	+	3	2	SMARCAL1	217055888	0.000000	0.05858	0.004000	0.12327	0.569000	0.35902	-1.291000	0.02775	-1.293000	0.02362	-0.253000	0.11424	CAG	SMARCAL1	-	NULL		0.418	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	HGNC	protein_coding	OTTHUMT00000256671.2	G			217347643	+1	no_errors	ENST00000357276	ensembl	human	known	70_37	missense	SNP	0.001	C
SMC2	10592	genome.wustl.edu	37	9	106875709	106875709	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:106875709G>A	ENST00000286398.7	+	11	1655	c.1367G>A	c.(1366-1368)aGa>aAa	p.R456K	SMC2_ENST00000303219.8_Missense_Mutation_p.R456K|SMC2_ENST00000374787.3_Missense_Mutation_p.R456K|SMC2_ENST00000374793.3_Missense_Mutation_p.R456K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	456					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GCTGTAAAAAGACTTAAAGAA	0.333																																																	0													55.0	57.0	56.0					9																	106875709		2203	4298	6501	SO:0001583	missense	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1367G>A	9.37:g.106875709G>A	ENSP00000286398:p.Arg456Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IEE0|Q9P1P2	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.R456K	ENST00000286398.7	37	c.1367	CCDS35086.1	9	.	.	.	.	.	.	.	.	.	.	G	3.317	-0.139480	0.06669	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.78364	-1.07;-1.07;-1.17;-1.07	4.86	2.59	0.31030	RecF/RecN/SMC (1);	0.302605	0.40469	N	0.001082	T	0.33904	0.0879	N	0.00182	-1.905	0.22989	N	0.998465	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.47535	-0.9110	10	0.02654	T	1	-12.4162	7.6139	0.28145	0.8487:0.0:0.1513:0.0	.	456;456;456	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	K	456	ENSP00000286398:R456K;ENSP00000363925:R456K;ENSP00000306152:R456K;ENSP00000363919:R456K	ENSP00000286398:R456K	R	+	2	0	SMC2	105915530	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	1.589000	0.36644	0.390000	0.25115	0.650000	0.86243	AGA	SMC2	-	pfam_RecF/RecN/SMC		0.333	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1	G			106875709	+1	no_errors	ENST00000286398	ensembl	human	known	70_37	missense	SNP	0.994	A
SMC4	10051	genome.wustl.edu	37	3	160149569	160149569	+	Missense_Mutation	SNP	G	G	A	rs137888861		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:160149569G>A	ENST00000357388.3	+	21	3704	c.3253G>A	c.(3253-3255)Gaa>Aaa	p.E1085K	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.E1085K|SMC4_ENST00000469762.1_Missense_Mutation_p.E1060K|SMC4_ENST00000360111.2_Missense_Mutation_p.E1027K|SMC4_ENST00000462787.1_Missense_Mutation_p.E1027K	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1085					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CCGGTGTCATGAAATGAAACC	0.388																																																	0													68.0	75.0	73.0					3																	160149569		2203	4300	6503	SO:0001583	missense	10051			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3253G>A	3.37:g.160149569G>A	ENSP00000349961:p.Glu1085Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.E1085K	ENST00000357388.3	37	c.3253	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657600	0.47467	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.78364	-0.74;-1.17;-0.75;-1.17;-0.74	6.06	6.06	0.98353	RecF/RecN/SMC (1);	0.181941	0.64402	D	0.000013	T	0.66509	0.2796	N	0.17564	0.495	0.51482	D	0.999923	B;B;B;B	0.28128	0.019;0.004;0.201;0.024	B;B;B;B	0.31946	0.028;0.026;0.138;0.009	T	0.61332	-0.7084	10	0.18276	T	0.48	-23.345	17.4951	0.87715	0.0:0.1237:0.8763:0.0	.	1027;1060;1060;1085	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	K	1085;1027;1060;1027;1085;679	ENSP00000349961:E1085K;ENSP00000353225:E1027K;ENSP00000417964:E1060K;ENSP00000420734:E1027K;ENSP00000341382:E1085K	ENSP00000341382:E1085K	E	+	1	0	SMC4	161632263	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.939000	0.56591	2.876000	0.98609	0.655000	0.94253	GAA	SMC4	-	pfam_RecF/RecN/SMC		0.388	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	G			160149569	+1	no_errors	ENST00000344722	ensembl	human	known	70_37	missense	SNP	1.000	A
SNX29	92017	genome.wustl.edu	37	16	12155423	12155423	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:12155423G>A	ENST00000566228.1	+	9	1232	c.1163G>A	c.(1162-1164)aGc>aAc	p.S388N	SNX29_ENST00000306030.3_Missense_Mutation_p.S3N|SNX29_ENST00000323433.4_Missense_Mutation_p.S3N	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	388						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CAGATGCACAGCTGGGCTCCG	0.592																																																	0													38.0	42.0	41.0					16																	12155423		2192	4290	6482	SO:0001583	missense	92017			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1163G>A	16.37:g.12155423G>A	ENSP00000456480:p.Ser388Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.S3N	ENST00000566228.1	37	c.8	CCDS10553.2	16	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198686	0.58126	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	.	.	.	5.7	5.7	0.88788	Phox homologous domain (1);	.	.	.	.	T	0.44685	0.1305	L	0.47716	1.5	0.23677	N	0.997135	B	0.27498	0.18	B	0.24269	0.052	T	0.33929	-0.9849	8	0.39692	T	0.17	-1.2004	16.5664	0.84599	0.0:0.0:1.0:0.0	.	388	Q8TEQ0	SNX29_HUMAN	N	3	.	ENSP00000306940:S3N	S	+	2	0	SNX29	12062924	1.000000	0.71417	0.981000	0.43875	0.945000	0.59286	2.989000	0.49393	2.688000	0.91661	0.655000	0.94253	AGC	SNX29	-	NULL		0.592	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNX29	HGNC	protein_coding	OTTHUMT00000422622.1	G			12155423	+1	no_errors	ENST00000306030	ensembl	human	known	70_37	missense	SNP	1.000	A
SPHKAP	80309	genome.wustl.edu	37	2	228860227	228860227	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:228860227C>A	ENST00000392056.3	-	8	4678	c.4632G>T	c.(4630-4632)atG>atT	p.M1544I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.M1544I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1544						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCAGGTACCTCATGGATCGCT	0.488																																																	0													224.0	196.0	206.0					2																	228860227		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4632G>T	2.37:g.228860227C>A	ENSP00000375909:p.Met1544Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.M1544I	ENST00000392056.3	37	c.4632	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875609	0.51695	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12147	2.71;2.79	6.06	6.06	0.98353	.	0.376078	0.32273	N	0.006340	T	0.19327	0.0464	M	0.70595	2.14	0.45239	D	0.998241	B;P	0.34615	0.172;0.459	B;B	0.32533	0.035;0.147	T	0.04811	-1.0925	10	0.15499	T	0.54	.	19.609	0.95594	0.0:1.0:0.0:0.0	.	1544;1544	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	1544	ENSP00000375909:M1544I;ENSP00000339886:M1544I	ENSP00000339886:M1544I	M	-	3	0	SPHKAP	228568471	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	2.721000	0.47260	2.882000	0.98803	0.655000	0.94253	ATG	SPHKAP	-	NULL		0.488	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	C	NM_030623		228860227	-1	no_errors	ENST00000392056	ensembl	human	known	70_37	missense	SNP	1.000	A
STK10	6793	genome.wustl.edu	37	5	171544618	171544618	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:171544618G>A	ENST00000176763.5	-	4	730	c.387C>T	c.(385-387)ctC>ctT	p.L129L		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	129	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGGCTCCGTGAGGCCTCTGT	0.547																																																	0													94.0	86.0	89.0					5																	171544618		2203	4300	6503	SO:0001819	synonymous_variant	6793			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.387C>T	5.37:g.171544618G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	pfam_PKK,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.L129	ENST00000176763.5	37	c.387	CCDS34290.1	5																																																																																			STK10	-	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		0.547	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	HGNC	protein_coding	OTTHUMT00000372374.2	G	NM_005990		171544618	-1	no_errors	ENST00000176763	ensembl	human	known	70_37	silent	SNP	1.000	A
STK11	6794	genome.wustl.edu	37	19	1207152	1207152	+	Silent	SNP	C	C	G	rs587782056		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:1207152C>G	ENST00000326873.7	+	1	1413	c.240C>G	c.(238-240)ctC>ctG	p.L80L	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with SIRT1.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAGATCCTCAAGAAGAAGA	0.617		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	23	Whole gene deletion(20)|Unknown(2)|Deletion - Frameshift(1)	cervix(15)|lung(3)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)											33.0	37.0	35.0					19																	1207152		2022	4167	6189	SO:0001819	synonymous_variant	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.240C>G	19.37:g.1207152C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBX7|E7EW76	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.L80	ENST00000326873.7	37	c.240	CCDS45896.1	19																																																																																			STK11	-	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		0.617	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	C	NM_000455		1207152	+1	no_errors	ENST00000326873	ensembl	human	known	70_37	silent	SNP	1.000	G
STK16	8576	genome.wustl.edu	37	2	220110704	220110704	+	5'UTR	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:220110704G>A	ENST00000409638.3	+	0	155				GLB1L_ENST00000295759.7_5'Flank|GLB1L_ENST00000392089.2_5'Flank|GLB1L_ENST00000409640.1_5'Flank|STK16_ENST00000409260.1_5'UTR|GLB1L_ENST00000356283.3_5'Flank|STK16_ENST00000409743.1_5'UTR|STK16_ENST00000486813.1_3'UTR|STK16_ENST00000396738.2_5'UTR|STK16_ENST00000409516.3_5'UTR	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16						cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTCCTTGAAGAGGATGACTG	0.557																																					Pancreas(34;887 922 17165 36961 39622)												0													60.0	62.0	61.0					2																	220110704		1976	4157	6133	SO:0001623	5_prime_UTR_variant	8576			AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.-18G>A	2.37:g.220110704G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	RNA	SNP	-	NULL	ENST00000409638.3	37	NULL	CCDS42822.1	2																																																																																			STK16	-	-		0.557	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK16	HGNC	protein_coding	OTTHUMT00000335679.1	G			220110704	+1	no_errors	ENST00000486813	ensembl	human	putative	70_37	rna	SNP	0.997	A
STON1	11037	genome.wustl.edu	37	2	48808940	48808940	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:48808940C>T	ENST00000406226.1	+	3	1363	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L	STON1_ENST00000309835.3_Silent_p.L390L|STON1_ENST00000404752.1_Silent_p.L390L|STON1-GTF2A1L_ENST00000394754.1_Silent_p.L390L|STON1-GTF2A1L_ENST00000309827.2_Silent_p.L390L|STON1-GTF2A1L_ENST00000402114.2_Silent_p.L390L|STON1-GTF2A1L_ENST00000394751.3_Silent_p.L390L|STON1-GTF2A1L_ENST00000405008.1_Silent_p.L390L	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	390	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTTGACTTTCTGACTACTGT	0.418																																																	0													73.0	72.0	73.0					2																	48808940		2203	4300	6503	SO:0001819	synonymous_variant	286749			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1168C>T	2.37:g.48808940C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.L390	ENST00000406226.1	37	c.1168	CCDS1841.1	2																																																																																			STON1-GTF2A1L	-	pfscan_SHD		0.418	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	HGNC	protein_coding	OTTHUMT00000323848.2	C	NM_006873		48808940	+1	no_errors	ENST00000309827	ensembl	human	known	70_37	silent	SNP	0.995	T
STK16	8576	genome.wustl.edu	37	2	220112958	220112958	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:220112958C>T	ENST00000409638.3	+	7	873	c.701C>T	c.(700-702)cCt>cTt	p.P234L	TUBA4A_ENST00000498660.1_5'Flank|GLB1L_ENST00000295759.7_5'Flank|GLB1L_ENST00000392089.2_5'Flank|STK16_ENST00000409260.1_Missense_Mutation_p.P279L|GLB1L_ENST00000356283.3_5'Flank|STK16_ENST00000409743.1_Missense_Mutation_p.P202L|STK16_ENST00000396738.2_Missense_Mutation_p.P234L|STK16_ENST00000409516.3_Missense_Mutation_p.P116L	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGAAGGCCCTTATGACATG	0.532																																					Pancreas(34;887 922 17165 36961 39622)												0													188.0	173.0	178.0					2																	220112958		2066	4216	6282	SO:0001583	missense	8576			AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.701C>T	2.37:g.220112958C>T	ENSP00000386928:p.Pro234Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P234L	ENST00000409638.3	37	c.701	CCDS42822.1	2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590950	0.86851	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409516;ENST00000409260;ENST00000409743	T;T;T;T;T	0.80393	1.59;1.59;-1.37;-1.37;1.59	5.12	5.12	0.69794	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92325	0.7565	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93859	0.7152	10	0.87932	D	0	-10.1838	18.7502	0.91810	0.0:1.0:0.0:0.0	.	116;279;234	B4DPS1;B8ZZN3;O75716	.;.;STK16_HUMAN	L	234;234;116;279;202	ENSP00000386928:P234L;ENSP00000379964:P234L;ENSP00000386309:P116L;ENSP00000387156:P279L;ENSP00000386553:P202L	ENSP00000379964:P234L	P	+	2	0	STK16	219821202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.617000	0.83032	2.664000	0.90586	0.655000	0.94253	CCT	STK16	-	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		0.532	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK16	HGNC	protein_coding	OTTHUMT00000335679.1	C			220112958	+1	no_errors	ENST00000396738	ensembl	human	known	70_37	missense	SNP	1.000	T
SUZ12	23512	genome.wustl.edu	37	17	30302566	30302566	+	Silent	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:30302566C>G	ENST00000322652.5	+	7	886	c.657C>G	c.(655-657)ctC>ctG	p.L219L	SUZ12_ENST00000580398.1_Silent_p.L196L	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	219					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				ATCCTGACCTCAATCAAACAA	0.373			T	JAZF1	endometrial stromal tumours																																			Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	0													48.0	51.0	50.0					17																	30302566		2203	4300	6503	SO:0001819	synonymous_variant	23512			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.657C>G	17.37:g.30302566C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96BD9	Silent	SNP	pfam_Polycomb_protein_VEFS-Box	p.L219	ENST00000322652.5	37	c.657	CCDS11270.1	17																																																																																			SUZ12	-	NULL		0.373	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUZ12	HGNC	protein_coding	OTTHUMT00000256260.2	C	NM_015355		30302566	+1	no_errors	ENST00000322652	ensembl	human	known	70_37	silent	SNP	1.000	G
SYNDIG1L	646658	genome.wustl.edu	37	14	74876329	74876329	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:74876329G>C	ENST00000554823.1	-	1	180	c.119C>G	c.(118-120)tCc>tGc	p.S40C	SYNDIG1L_ENST00000331628.3_Missense_Mutation_p.S40C			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	40					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						TAGGAGGTAGGAGTAGAGCTT	0.687																																																	0													33.0	37.0	36.0					14																	74876329		1927	4138	6065	SO:0001583	missense	646658				CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"""caudate-and putamen-enriched sequence"", ""interferon induced transmembrane protein domain containing 4"""	609999	"""transmembrane protein 90A"""	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.119C>G	14.37:g.74876329G>C	ENSP00000450439:p.Ser40Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.S40C	ENST00000554823.1	37	c.119	CCDS41970.1	14	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303062	0.40795	.	.	ENSG00000183379	ENST00000331628;ENST00000554823;ENST00000554953	D;D	0.95788	-3.81;-3.81	4.44	3.55	0.40652	.	0.463268	0.23953	N	0.042929	D	0.91696	0.7375	N	0.22421	0.69	0.33033	D	0.530473	D	0.58620	0.983	P	0.47206	0.541	D	0.92718	0.6189	10	0.56958	D	0.05	-8.1025	10.6266	0.45510	0.089:0.0:0.911:0.0	.	40	A6NDD5	SYN1L_HUMAN	C	40	ENSP00000331474:S40C;ENSP00000450439:S40C	ENSP00000331474:S40C	S	-	2	0	SYNDIG1L	73946082	1.000000	0.71417	0.998000	0.56505	0.499000	0.33736	3.125000	0.50469	1.085000	0.41206	0.467000	0.42956	TCC	SYNDIG1L	-	NULL		0.687	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYNDIG1L	HGNC	protein_coding	OTTHUMT00000412341.1	G	XM_938515		74876329	-1	no_errors	ENST00000331628	ensembl	human	known	70_37	missense	SNP	0.940	C
TAB2	23118	genome.wustl.edu	37	6	149700292	149700292	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr6:149700292G>C	ENST00000367456.1	+	4	1818	c.1241G>C	c.(1240-1242)gGa>gCa	p.G414A	TAB2_ENST00000536230.1_Missense_Mutation_p.G382A|TAB2_ENST00000392282.1_Missense_Mutation_p.G414A|TAB2_ENST00000538427.1_Missense_Mutation_p.G414A|TAB2_ENST00000286332.5_Missense_Mutation_p.G414A			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	414					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ACAAACTCTGGAGCATCTGCT	0.493																																																	0													73.0	70.0	71.0					6																	149700292		2203	4300	6503	SO:0001583	missense	23118			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1241G>C	6.37:g.149700292G>C	ENSP00000356426:p.Gly414Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.G414A	ENST00000367456.1	37	c.1241	CCDS5214.1	6	.	.	.	.	.	.	.	.	.	.	G	1.415	-0.574412	0.03882	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	5.65	5.65	0.86999	.	0.169640	0.51477	D	0.000086	T	0.05823	0.0152	N	0.14661	0.345	0.58432	D	0.999993	P;P	0.52842	0.956;0.956	P;P	0.45856	0.495;0.495	T	0.42050	-0.9474	10	0.12766	T	0.61	-7.7589	19.9142	0.97043	0.0:0.0:1.0:0.0	.	382;414	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	A	382;414;414;414;414	ENSP00000443206:G382A;ENSP00000376106:G414A;ENSP00000445752:G414A;ENSP00000356426:G414A;ENSP00000286332:G414A	ENSP00000286332:G414A	G	+	2	0	TAB2	149741985	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.377000	0.66184	2.941000	0.99782	0.655000	0.94253	GGA	TAB2	-	NULL		0.493	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB2	HGNC	protein_coding	OTTHUMT00000042633.3	G			149700292	+1	no_errors	ENST00000286332	ensembl	human	known	70_37	missense	SNP	1.000	C
TCP11L1	55346	genome.wustl.edu	37	11	33079605	33079605	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:33079605G>A	ENST00000334274.4	+	5	958	c.558G>A	c.(556-558)atG>atA	p.M186I	TCP11L1_ENST00000432887.1_Missense_Mutation_p.M186I|TCP11L1_ENST00000531632.2_Missense_Mutation_p.M186I|TCP11L1_ENST00000324357.9_5'Flank|TCP11L1_ENST00000530171.1_3'UTR	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	186						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						TTATTGGCATGATGGGGACAC	0.428																																																	0													99.0	90.0	93.0					11																	33079605		2202	4298	6500	SO:0001583	missense	55346			BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 1"""				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.558G>A	11.37:g.33079605G>A	ENSP00000335595:p.Met186Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DR01|Q8IVX4	Missense_Mutation	SNP	pfam_Tcp11	p.M186I	ENST00000334274.4	37	c.558	CCDS7882.1	11	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286325	0.40494	.	.	ENSG00000176148	ENST00000334274;ENST00000531632;ENST00000432887	T;T;T	0.08720	3.06;3.06;3.06	5.53	2.58	0.30949	.	0.145359	0.85682	N	0.000000	T	0.05731	0.0150	L	0.27053	0.805	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.36841	-0.9731	9	.	.	.	-17.8616	9.859	0.41103	0.0657:0.0:0.6879:0.2463	.	186	Q9NUJ3	T11L1_HUMAN	I	186	ENSP00000335595:M186I;ENSP00000433067:M186I;ENSP00000395070:M186I	.	M	+	3	0	TCP11L1	33036181	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.344000	0.52174	0.676000	0.31285	0.491000	0.48974	ATG	TCP11L1	-	pfam_Tcp11		0.428	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCP11L1	HGNC	protein_coding	OTTHUMT00000383377.4	G	NM_018393		33079605	+1	no_errors	ENST00000527661	ensembl	human	known	70_37	missense	SNP	1.000	A
TLR2	7097	genome.wustl.edu	37	4	154625477	154625477	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:154625477C>G	ENST00000260010.6	+	1	2826	c.1418C>G	c.(1417-1419)tCt>tGt	p.S473C		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	473					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	AATTTATTTTCTTTGAATTTG	0.358																																																	0													86.0	90.0	89.0					4																	154625477		2203	4300	6503	SO:0001583	missense	7097			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1418C>G	4.37:g.154625477C>G	ENSP00000260010:p.Ser473Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom,prints_IL1_rcpt_1	p.S473C	ENST00000260010.6	37	c.1418	CCDS3784.1	4	.	.	.	.	.	.	.	.	.	.	C	8.441	0.850868	0.17034	.	.	ENSG00000137462	ENST00000260010	T	0.01051	5.4	5.21	3.29	0.37713	.	0.946464	0.08804	N	0.891333	T	0.02304	0.0071	L	0.52573	1.65	0.09310	N	1	D	0.63880	0.993	P	0.50537	0.643	T	0.51244	-0.8730	10	0.62326	D	0.03	.	5.0536	0.14522	0.133:0.6057:0.1729:0.0884	.	473	O60603	TLR2_HUMAN	C	473	ENSP00000260010:S473C	ENSP00000260010:S473C	S	+	2	0	TLR2	154844927	0.000000	0.05858	0.165000	0.22776	0.011000	0.07611	-0.063000	0.11655	2.438000	0.82558	0.563000	0.77884	TCT	TLR2	-	pirsf_Toll-like_receptor		0.358	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	HGNC	protein_coding	OTTHUMT00000365205.1	C			154625477	+1	no_errors	ENST00000260010	ensembl	human	known	70_37	missense	SNP	0.007	G
TMCO6	55374	genome.wustl.edu	37	5	140019389	140019389	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:140019389G>C	ENST00000394671.3	+	2	252	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	TMCO6_ENST00000252100.6_Missense_Mutation_p.E51Q|TMCO6_ENST00000537378.1_5'UTR|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000511410.1_Missense_Mutation_p.E51Q	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	51	Arg-rich.				protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACGCCCCAGAGGAAGCTGG	0.677																																																	0													34.0	51.0	45.0					5																	140019389		2052	4195	6247	SO:0001583	missense	55374			BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.151G>C	5.37:g.140019389G>C	ENSP00000378166:p.Glu51Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BUU0|Q9P198	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB	p.E51Q	ENST00000394671.3	37	c.151	CCDS4233.2	5	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386829	0.82902	.	.	ENSG00000113119	ENST00000394671;ENST00000511410;ENST00000252100	T;T;T	0.32023	1.47;1.47;1.47	5.24	5.24	0.73138	Importin-alpha, importin-beta-binding domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.274129	0.21720	U	0.070136	T	0.47525	0.1450	M	0.65498	2.005	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.62184	0.899;0.899;0.899	T	0.27536	-1.0071	10	0.20046	T	0.44	-7.9361	12.8494	0.57848	0.0796:0.0:0.9204:0.0	.	51;51;51	E7ESN7;Q96DC7-2;Q96DC7	.;.;TMCO6_HUMAN	Q	51	ENSP00000378166:E51Q;ENSP00000422154:E51Q;ENSP00000252100:E51Q	ENSP00000252100:E51Q	E	+	1	0	TMCO6	139999573	0.991000	0.36638	0.932000	0.37286	0.596000	0.36781	4.606000	0.61126	2.456000	0.83038	0.557000	0.71058	GAG	TMCO6	-	superfamily_ARM-type_fold,pfscan_Importin-a_IBB		0.677	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO6	HGNC	protein_coding	OTTHUMT00000251666.2	G	NM_018502		140019389	+1	no_errors	ENST00000252100	ensembl	human	known	70_37	missense	SNP	0.987	C
TNFAIP6	7130	genome.wustl.edu	37	2	152226592	152226592	+	Silent	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:152226592C>T	ENST00000243347.3	+	4	528	c.453C>T	c.(451-453)ttC>ttT	p.F151F	MIR4773-1_ENST00000585225.1_RNA|RN7SL124P_ENST00000498656.2_RNA	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	151	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	CTCCAGGCTTCCCAAATGAGT	0.383																																																	0													135.0	136.0	136.0					2																	152226592		2203	4300	6503	SO:0001819	synonymous_variant	7130				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.453C>T	2.37:g.152226592C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TI7|Q8WWI9	Silent	SNP	pfam_CUB,pfam_Link,superfamily_CUB,superfamily_C-type_lectin_fold,smart_Link,smart_CUB,pfscan_CUB,pfscan_Link,prints_Link	p.F151	ENST00000243347.3	37	c.453	CCDS2193.1	2																																																																																			TNFAIP6	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.383	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP6	HGNC	protein_coding	OTTHUMT00000254834.2	C	NM_007115		152226592	+1	no_errors	ENST00000243347	ensembl	human	known	70_37	silent	SNP	0.997	T
TNIK	23043	genome.wustl.edu	37	3	170786639	170786639	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:170786639G>A	ENST00000436636.2	-	30	4041	c.3697C>T	c.(3697-3699)Cat>Tat	p.H1233Y	TNIK_ENST00000284483.8_Missense_Mutation_p.H1225Y|TNIK_ENST00000357327.5_Missense_Mutation_p.H1204Y|TNIK_ENST00000470834.1_Missense_Mutation_p.H1196Y|TNIK_ENST00000460047.1_Missense_Mutation_p.H1170Y|TNIK_ENST00000475336.1_Missense_Mutation_p.H1141Y|TNIK_ENST00000488470.1_Missense_Mutation_p.H1178Y|TNIK_ENST00000341852.6_Missense_Mutation_p.H1149Y|TNIK_ENST00000538048.1_Missense_Mutation_p.H1185Y|TNIK_ENST00000369326.5_Missense_Mutation_p.H1211Y	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1233	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				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)			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)			GTACTTACATGAGATGGTATG	0.363																																																	0													71.0	68.0	69.0					3																	170786639		1867	4100	5967	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.3697C>T	3.37:g.170786639G>A	ENSP00000399511:p.His1233Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	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.H1233Y	ENST00000436636.2	37	c.3697	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845019	0.91197	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.04862	3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54	6.06	6.06	0.98353	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.27559	0.0677	M	0.74647	2.275	0.80722	D	1	P;P;P;D;P;P;P;D;P	0.53745	0.858;0.908;0.765;0.962;0.908;0.944;0.944;0.962;0.954	P;D;P;D;D;P;P;D;P	0.66716	0.8;0.922;0.537;0.946;0.922;0.8;0.655;0.946;0.874	T	0.00016	-1.2390	10	0.51188	T	0.08	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1185;1141;1196;1170;1149;1225;1204;1178;1233	F5H5M9;Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;.;TNIK_HUMAN	Y	1233;1211;1185;1149;1225;1141;1204;1170;1178;1196	ENSP00000399511:H1233Y;ENSP00000358332:H1211Y;ENSP00000443278:H1185Y;ENSP00000345352:H1149Y;ENSP00000284483:H1225Y;ENSP00000418156:H1141Y;ENSP00000349880:H1204Y;ENSP00000418916:H1170Y;ENSP00000418378:H1178Y;ENSP00000419990:H1196Y	ENSP00000284483:H1225Y	H	-	1	0	TNIK	172269333	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	CAT	TNIK	-	pfam_Citron,smart_Citron		0.363	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	G	XM_039796		170786639	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	missense	SNP	1.000	A
TP53BP1	7158	genome.wustl.edu	37	15	43748527	43748527	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:43748527C>A	ENST00000263801.3	-	12	2516	c.2264G>T	c.(2263-2265)aGt>aTt	p.S755I	TP53BP1_ENST00000382044.4_Missense_Mutation_p.S760I|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S760I|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S760I|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	755					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AATGACAACACTGGAGTCCTC	0.448								Other conserved DNA damage response genes																																									0													91.0	90.0	90.0					15																	43748527		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2264G>T	15.37:g.43748527C>A	ENSP00000263801:p.Ser755Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.S760I	ENST00000263801.3	37	c.2279	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172661	0.57584	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.12984	3.58;3.58;3.58;3.58;2.63	5.25	5.25	0.73442	.	0.185751	0.47455	D	0.000236	T	0.22322	0.0538	N	0.19112	0.55	0.36158	D	0.847934	D;D;D;D	0.76494	0.997;0.998;0.999;0.999	P;D;D;D	0.83275	0.89;0.991;0.996;0.996	T	0.11690	-1.0577	10	0.56958	D	0.05	-10.1359	12.7461	0.57281	0.0:0.8221:0.1779:0.0	.	760;755;760;760	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	I	755;760;760;760;760	ENSP00000263801:S755I;ENSP00000371475:S760I;ENSP00000371470:S760I;ENSP00000393497:S760I;ENSP00000388028:S760I	ENSP00000263801:S755I	S	-	2	0	TP53BP1	41535819	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	1.367000	0.34204	2.605000	0.88082	0.563000	0.77884	AGT	TP53BP1	-	NULL		0.448	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	C			43748527	-1	no_errors	ENST00000382044	ensembl	human	known	70_37	missense	SNP	0.983	A
TRAF3	7187	genome.wustl.edu	37	14	103336564	103336564	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:103336564C>T	ENST00000560371.1	+	2	243	c.26C>T	c.(25-27)tCt>tTt	p.S9F	TRAF3_ENST00000539721.1_Missense_Mutation_p.S9F|TRAF3_ENST00000347662.4_Missense_Mutation_p.S9F|TRAF3_ENST00000392745.2_Missense_Mutation_p.S9F|TRAF3_ENST00000351691.5_Missense_Mutation_p.S9F	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	9					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AAGATGGACTCTCCTGGCGCG	0.493																																																	0													66.0	69.0	68.0					14																	103336564		2203	4300	6503	SO:0001583	missense	7187			U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.26C>T	14.37:g.103336564C>T	ENSP00000454207:p.Ser9Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.S9F	ENST00000560371.1	37	c.26	CCDS9975.1	14	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908536	0.33721	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	T;T;T;T	0.45668	2.21;2.21;2.21;0.89	5.2	5.2	0.72013	.	2.312790	0.01520	N	0.018309	T	0.33089	0.0851	N	0.08118	0	0.32969	D	0.522112	B;P;B	0.34462	0.25;0.454;0.138	B;B;B	0.27887	0.063;0.084;0.037	T	0.47509	-0.9112	10	0.59425	D	0.04	-2.1645	18.7386	0.91765	0.0:1.0:0.0:0.0	.	9;9;9	Q13114-2;A6NHG8;Q13114	.;.;TRAF3_HUMAN	F	9	ENSP00000376500:S9F;ENSP00000328003:S9F;ENSP00000332468:S9F;ENSP00000445998:S9F	ENSP00000328003:S9F	S	+	2	0	TRAF3	102406317	0.081000	0.21417	0.102000	0.21198	0.019000	0.09904	4.046000	0.57376	2.432000	0.82394	0.655000	0.94253	TCT	TRAF3	-	pirsf_TNF_rcpt--assoc_TRAF		0.493	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF3	HGNC	protein_coding	OTTHUMT00000415735.1	C	NM_145725		103336564	+1	no_errors	ENST00000392745	ensembl	human	known	70_37	missense	SNP	0.958	T
TRIM37	4591	genome.wustl.edu	37	17	57139987	57139987	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:57139987G>T	ENST00000262294.7	-	11	1142	c.883C>A	c.(883-885)Cct>Act	p.P295T	TRIM37_ENST00000376149.3_Missense_Mutation_p.P173T|TRIM37_ENST00000393066.3_Missense_Mutation_p.P295T|TRIM37_ENST00000393065.2_Missense_Mutation_p.P261T	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	295	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTGTAAACAGGATCTGCTCTC	0.383									Mulibrey Nanism																																								0													71.0	67.0	69.0					17																	57139987		2203	4300	6503	SO:0001583	missense	4591	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.883C>A	17.37:g.57139987G>T	ENSP00000262294:p.Pro295Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING	p.P295T	ENST00000262294.7	37	c.883	CCDS32694.1	17	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853501	0.51270	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.47	5.47	0.80525	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81216	0.4776	M	0.81802	2.56	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.408	D;D;B	0.91635	0.987;0.999;0.387	T	0.82277	-0.0537	10	0.54805	T	0.06	-3.3286	19.3189	0.94229	0.0:0.0:1.0:0.0	.	261;173;295	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	T	295;295;173;261	ENSP00000376785:P295T;ENSP00000262294:P295T;ENSP00000365319:P173T;ENSP00000376784:P261T	ENSP00000262294:P295T	P	-	1	0	TRIM37	54494769	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.670000	0.98625	2.574000	0.86865	0.650000	0.86243	CCT	TRIM37	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH		0.383	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM37	HGNC	protein_coding	OTTHUMT00000445930.1	G	NM_015294		57139987	-1	no_errors	ENST00000262294	ensembl	human	known	70_37	missense	SNP	1.000	T
NDUFA13	51079	genome.wustl.edu	37	19	19626097	19626097	+	5'Flank	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:19626097C>T	ENST00000507754.4	+	0	0				YJEFN3_ENST00000608404.1_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|NDUFA13_ENST00000512771.3_5'Flank|NDUFA13_ENST00000428459.2_5'Flank|TSSK6_ENST00000360913.3_Missense_Mutation_p.R47Q|TSSK6_ENST00000585580.3_Missense_Mutation_p.R47Q|NDUFA13_ENST00000503283.1_5'Flank|NDUFA13_ENST00000252576.5_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CGGGGGCGCTCGCCGCCGGTC	0.627																																																	0													61.0	56.0	57.0					19																	19626097		2203	4300	6503	SO:0001631	upstream_gene_variant	83983			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19626097C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R47Q	ENST00000507754.4	37	c.140	CCDS12404.2	19	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444910	0.43429	.	.	ENSG00000178093	ENST00000360913	T	0.65178	-0.14	4.96	4.96	0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39687	U	0.001289	T	0.38427	0.1040	N	0.11427	0.14	0.38669	D	0.952251	B	0.18166	0.026	B	0.17098	0.017	T	0.35450	-0.9788	10	0.02654	T	1	.	13.7493	0.62897	0.0:1.0:0.0:0.0	.	47	Q9BXA6	TSSK6_HUMAN	Q	47	ENSP00000354168:R47Q	ENSP00000354168:R47Q	R	-	2	0	TSSK6	19487097	0.373000	0.25073	1.000000	0.80357	0.971000	0.66376	1.438000	0.35002	2.324000	0.78689	0.306000	0.20318	CGA	TSSK6	-	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		0.627	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TSSK6	HGNC	protein_coding	OTTHUMT00000367916.6	C	NM_015965		19626097	-1	no_errors	ENST00000360913	ensembl	human	known	70_37	missense	SNP	0.982	T
TST	7263	genome.wustl.edu	37	22	37414596	37414596	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr22:37414596C>G	ENST00000403892.3	-	1	912	c.178G>C	c.(178-180)Gac>Cac	p.D60H	MPST_ENST00000429360.2_5'Flank|MPST_ENST00000404802.3_5'Flank|MPST_ENST00000341116.3_5'Flank|MPST_ENST00000401419.3_5'Flank|MPST_ENST00000397129.1_5'Flank|MPST_ENST00000404393.1_5'Flank|TST_ENST00000249042.3_Missense_Mutation_p.D60H	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	60	Rhodanese 1. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						TCTTCTATGTCAAAGAAAGAG	0.667																																																	0													8.0	7.0	7.0					22																	37414596		2164	4251	6415	SO:0001583	missense	7263			Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.178G>C	22.37:g.37414596C>G	ENSP00000385828:p.Asp60His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRM1|Q6IB06	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.D60H	ENST00000403892.3	37	c.178	CCDS13938.1	22	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460815	0.84317	.	.	ENSG00000128311	ENST00000403892;ENST00000249042;ENST00000413912;ENST00000438203	T;T;T	0.27104	1.69;1.69;1.69	4.94	3.7	0.42460	Rhodanese-like (5);	0.045629	0.85682	D	0.000000	T	0.54382	0.1855	M	0.86343	2.81	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	T	0.64584	-0.6373	10	0.87932	D	0	-13.6068	14.1576	0.65428	0.0:0.9142:0.0:0.0858	.	60	Q16762	THTR_HUMAN	H	60	ENSP00000385828:D60H;ENSP00000249042:D60H;ENSP00000400764:D60H	ENSP00000249042:D60H	D	-	1	0	TST	35744542	1.000000	0.71417	0.991000	0.47740	0.977000	0.68977	4.059000	0.57470	2.284000	0.76573	0.561000	0.74099	GAC	TST	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom		0.667	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TST	HGNC	protein_coding	OTTHUMT00000318790.1	C			37414596	-1	no_errors	ENST00000249042	ensembl	human	known	70_37	missense	SNP	1.000	G
TYSND1	219743	genome.wustl.edu	37	10	71899836	71899836	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:71899836G>C	ENST00000287078.6	-	4	1544	c.1545C>G	c.(1543-1545)ttC>ttG	p.F515L	TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_3'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	515	Serine protease.				protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						TGGGAATGCTGAAGTTCAGGT	0.597																																																	0													133.0	112.0	119.0					10																	71899836		2203	4300	6503	SO:0001583	missense	219743			BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.1545C>G	10.37:g.71899836G>C	ENSP00000287078:p.Phe515Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,pirsf_Pept_S1A_Tysnd1	p.F515L	ENST00000287078.6	37	c.1545	CCDS31213.1	10	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780514	0.90195	.	.	ENSG00000156521	ENST00000287078	D	0.89485	-2.52	5.85	5.85	0.93711	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	D	0.94324	0.8176	M	0.74647	2.275	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93893	0.7181	10	0.54805	T	0.06	-29.0793	18.7214	0.91697	0.0:0.0:1.0:0.0	.	515	Q2T9J0	TYSD1_HUMAN	L	515	ENSP00000287078:F515L	ENSP00000287078:F515L	F	-	3	2	TYSND1	71569842	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.688000	0.61715	2.773000	0.95371	0.650000	0.86243	TTC	TYSND1	-	superfamily_Pept_cys/ser_Trypsin-like,pirsf_Pept_S1A_Tysnd1		0.597	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYSND1	HGNC	protein_coding	OTTHUMT00000048483.1	G	NM_173555		71899836	-1	no_errors	ENST00000287078	ensembl	human	known	70_37	missense	SNP	1.000	C
UBR4	23352	genome.wustl.edu	37	1	19413195	19413195	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:19413195C>G	ENST00000375254.3	-	100	14692	c.14665G>C	c.(14665-14667)Gac>Cac	p.D4889H	UBR4_ENST00000543981.1_Missense_Mutation_p.D553H|UBR4_ENST00000429347.2_Missense_Mutation_p.D412H|UBR4_ENST00000375224.1_Missense_Mutation_p.D596H|UBR4_ENST00000375267.2_Missense_Mutation_p.D4889H|UBR4_ENST00000375217.2_Missense_Mutation_p.D4882H|UBR4_ENST00000375226.2_Missense_Mutation_p.D4865H	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4889					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGATGGCAGTCGTAGTGCACA	0.597																																																	0													106.0	99.0	102.0					1																	19413195		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.14665G>C	1.37:g.19413195C>G	ENSP00000364403:p.Asp4889His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.D4889H	ENST00000375254.3	37	c.14665	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100587	0.76983	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.56411	0.1983	M	0.66506	2.035	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.55231	-0.8173	10	0.59425	D	0.04	.	18.5058	0.90897	0.0:1.0:0.0:0.0	.	553;412;4889;4865	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	H	4889;4889;4882;4865;596;412;553	ENSP00000364403:D4889H;ENSP00000364416:D4889H;ENSP00000364365:D4882H;ENSP00000364374:D4865H;ENSP00000364372:D596H;ENSP00000394173:D412H;ENSP00000444070:D553H	ENSP00000364365:D4882H	D	-	1	0	UBR4	19285782	1.000000	0.71417	0.996000	0.52242	0.501000	0.33797	7.484000	0.81180	2.700000	0.92200	0.563000	0.77884	GAC	UBR4	-	NULL		0.597	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	C	NM_020765		19413195	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	missense	SNP	1.000	G
UBR5	51366	genome.wustl.edu	37	8	103299757	103299757	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr8:103299757C>T	ENST00000520539.1	-	37	5467	c.4861G>A	c.(4861-4863)Gaa>Aaa	p.E1621K	UBR5_ENST00000521922.1_Missense_Mutation_p.E1615K|UBR5_ENST00000519528.1_5'UTR|UBR5_ENST00000220959.4_Missense_Mutation_p.E1621K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1621					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTTCTGTTTCAGCTGCTGCT	0.408																																					Ovarian(131;96 1741 5634 7352 27489)												0													191.0	144.0	160.0					8																	103299757		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.4861G>A	8.37:g.103299757C>T	ENSP00000429084:p.Glu1621Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.E1621K	ENST00000520539.1	37	c.4861	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	C	37	6.057674	0.97241	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.53423	0.62;0.62;0.62	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	L	0.49778	1.585	0.80722	D	1	P;P	0.52842	0.956;0.956	D;D	0.65010	0.931;0.931	T	0.64015	-0.6506	10	0.72032	D	0.01	.	20.3955	0.98984	0.0:1.0:0.0:0.0	.	1615;1621	E7EMW7;O95071	.;UBR5_HUMAN	K	1621;1621;1615	ENSP00000429084:E1621K;ENSP00000220959:E1621K;ENSP00000427819:E1615K	ENSP00000220959:E1621K	E	-	1	0	UBR5	103368933	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.830000	0.97506	0.655000	0.94253	GAA	UBR5	-	NULL		0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	C	NM_015902		103299757	-1	no_errors	ENST00000520539	ensembl	human	known	70_37	missense	SNP	1.000	T
UPF3A	65110	genome.wustl.edu	37	13	115067351	115067351	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:115067351G>A	ENST00000375299.3	+	9	1209	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	UPF3A_ENST00000351487.5_Missense_Mutation_p.E352K|UPF3A_ENST00000475218.2_3'UTR	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	385					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GAGTGAGGATGAGCAGAGATG	0.582																																																	0													32.0	28.0	29.0					13																	115067351		2203	4300	6503	SO:0001583	missense	65110			AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.1153G>A	13.37:g.115067351G>A	ENSP00000364448:p.Glu385Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Missense_Mutation	SNP	pfam_Nonsense_mediated_decay_UPF3	p.E385K	ENST00000375299.3	37	c.1153	CCDS9543.1	13	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359180	0.61403	.	.	ENSG00000169062	ENST00000375299;ENST00000351487	T;T	0.34275	1.37;1.37	5.14	5.14	0.70334	.	0.048133	0.85682	D	0.000000	T	0.62938	0.2469	M	0.78801	2.425	0.50813	D	0.999899	D;D	0.76494	0.999;0.998	D;D	0.77004	0.979;0.989	T	0.64279	-0.6445	9	.	.	.	-15.9347	18.9775	0.92743	0.0:0.0:1.0:0.0	.	352;385	Q9H1J1-2;Q9H1J1	.;REN3A_HUMAN	K	385;352	ENSP00000364448:E385K;ENSP00000329592:E352K	.	E	+	1	0	UPF3A	114085453	1.000000	0.71417	0.748000	0.31131	0.032000	0.12392	6.038000	0.70964	2.558000	0.86282	0.655000	0.94253	GAG	UPF3A	-	NULL		0.582	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPF3A	HGNC	protein_coding	OTTHUMT00000045968.2	G			115067351	+1	no_errors	ENST00000375299	ensembl	human	known	70_37	missense	SNP	0.999	A
UPK3A	7380	genome.wustl.edu	37	22	45691457	45691457	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr22:45691457G>C	ENST00000216211.4	+	6	753	c.721G>C	c.(721-723)Gat>Cat	p.D241H	UPK3A_ENST00000396082.2_Missense_Mutation_p.D120H	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	241					cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GGGGAGTTCTGATGGGGAAAC	0.582																																																	0													127.0	130.0	129.0					22																	45691457		2203	4300	6503	SO:0001583	missense	7380			AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"""uroplakin 3"""	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.721G>C	22.37:g.45691457G>C	ENSP00000216211:p.Asp241His	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QY25|O60261|Q32N05|Q5TII6	Missense_Mutation	SNP	NULL	p.D241H	ENST00000216211.4	37	c.721	CCDS14064.1	22	.	.	.	.	.	.	.	.	.	.	G	13.32	2.203422	0.38905	.	.	ENSG00000100373	ENST00000216211;ENST00000396082	T;D	0.86366	-0.38;-2.11	5.64	5.64	0.86602	.	0.283163	0.33732	N	0.004615	D	0.92854	0.7727	M	0.73962	2.25	0.09310	N	0.999997	D;D	0.89917	0.975;1.0	P;D	0.76575	0.826;0.988	D	0.87153	0.2210	10	0.72032	D	0.01	-9.7449	15.2084	0.73198	0.0:0.0:1.0:0.0	.	120;241	O75631-2;O75631	.;UPK3A_HUMAN	H	241;120	ENSP00000216211:D241H;ENSP00000379391:D120H	ENSP00000216211:D241H	D	+	1	0	UPK3A	44070121	0.939000	0.31865	0.030000	0.17652	0.118000	0.20060	4.233000	0.58651	2.676000	0.91093	0.557000	0.71058	GAT	UPK3A	-	NULL		0.582	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UPK3A	HGNC	protein_coding	OTTHUMT00000322276.1	G	NM_006953		45691457	+1	no_errors	ENST00000216211	ensembl	human	known	70_37	missense	SNP	0.117	C
UPP2	151531	genome.wustl.edu	37	2	158977950	158977950	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:158977950G>A	ENST00000005756.4	+	5	678	c.484G>A	c.(484-486)Gat>Aat	p.D162N	UPP2_ENST00000605860.1_Missense_Mutation_p.D219N|UPP2_ENST00000460456.1_Intron|UPP2_ENST00000409859.4_Missense_Mutation_p.D219N	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	162					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	TGTAATAACGGATATAGCTGT	0.398																																																	0													219.0	224.0	222.0					2																	158977950		2203	4299	6502	SO:0001583	missense	151531			AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.484G>A	2.37:g.158977950G>A	ENSP00000005756:p.Asp162Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV87	Missense_Mutation	SNP	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	p.D219N	ENST00000005756.4	37	c.655	CCDS2207.1	2	.	.	.	.	.	.	.	.	.	.	G	14.72	2.621076	0.46736	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	D;D	0.88201	-2.35;-2.35	5.52	5.52	0.82312	Nucleoside phosphorylase domain (1);	0.097549	0.64402	D	0.000002	D	0.90133	0.6917	M	0.63428	1.95	0.49582	D	0.999801	P	0.43578	0.811	P	0.46543	0.52	D	0.89270	0.3604	10	0.38643	T	0.18	.	18.0144	0.89235	0.0:0.0:1.0:0.0	.	162	O95045	UPP2_HUMAN	N	219;162	ENSP00000387230:D219N;ENSP00000005756:D162N	ENSP00000005756:D162N	D	+	1	0	UPP2	158686196	1.000000	0.71417	0.024000	0.17045	0.036000	0.12997	4.643000	0.61390	2.603000	0.88011	0.561000	0.74099	GAT	UPP2	-	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk		0.398	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPP2	HGNC	protein_coding	OTTHUMT00000254929.2	G	NM_173355		158977950	+1	no_errors	ENST00000409859	ensembl	human	known	70_37	missense	SNP	0.834	A
UQCRC2	7385	genome.wustl.edu	37	16	21964776	21964776	+	Splice_Site	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:21964776C>T	ENST00000268379.4	+	1	796	c.32C>T	c.(31-33)tCg>tTg	p.S11L	UQCRC2_ENST00000561553.1_Splice_Site_p.S11L	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	11					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		GGCTCTTTCTCGGTGAGCTCA	0.577																																					Colon(123;450 1645 12841 25393 45623)												0													50.0	52.0	51.0					16																	21964776		2198	4300	6498	SO:0001630	splice_region_variant	7385			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.33+1C>T	16.37:g.21964776C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSN4|Q9BQ05	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.S11L	ENST00000268379.4	37	c.32	CCDS10601.1	16	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612767	0.66672	.	.	ENSG00000140740	ENST00000268379	T	0.11930	2.73	5.26	5.26	0.73747	.	0.057508	0.64402	D	0.000001	T	0.15912	0.0383	L	0.59436	1.845	0.43714	D	0.996183	B	0.09022	0.002	B	0.04013	0.001	T	0.03202	-1.1061	10	0.23891	T	0.37	-1.6144	14.7239	0.69329	0.0:1.0:0.0:0.0	.	11	P22695	QCR2_HUMAN	L	11	ENSP00000268379:S11L	ENSP00000268379:S11L	S	+	2	0	UQCRC2	21872277	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	3.494000	0.53273	2.592000	0.87571	0.655000	0.94253	TCG	UQCRC2	-	NULL		0.577	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC2	HGNC	protein_coding	OTTHUMT00000254466.1	C	NM_003366	Missense_Mutation	21964776	+1	no_errors	ENST00000268379	ensembl	human	known	70_37	missense	SNP	1.000	T
UTP14C	9724	genome.wustl.edu	37	13	52604876	52604876	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:52604876C>T	ENST00000521776.2	+	2	2669	c.1936C>T	c.(1936-1938)Cgc>Tgc	p.R646C		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	646					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CAAGAAAAGACGCCAGTTTCT	0.532																																																	0													110.0	120.0	116.0					13																	52604876		2203	4300	6503	SO:0001583	missense	9724			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1936C>T	13.37:g.52604876C>T	ENSP00000428619:p.Arg646Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5FWG3|Q92555	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.R646C	ENST00000521776.2	37	c.1936	CCDS31978.1	13	.	.	.	.	.	.	.	.	.	.	C	9.162	1.019017	0.19355	.	.	ENSG00000253797	ENST00000521776	T	0.21031	2.03	2.9	-4.93	0.03066	.	0.145765	0.64402	D	0.000010	T	0.19485	0.0468	M	0.76328	2.33	0.54753	D	0.999986	B	0.26602	0.154	B	0.24269	0.052	T	0.03514	-1.1029	9	.	.	.	-4.0351	11.724	0.51698	0.0:0.8081:0.0:0.1919	.	646	Q5TAP6	UT14C_HUMAN	C	646	ENSP00000428619:R646C	.	R	+	1	0	UTP14C	51502877	0.859000	0.29813	0.898000	0.35279	0.550000	0.35303	0.477000	0.22196	-1.567000	0.01671	-0.693000	0.03709	CGC	UTP14C	-	pfam_SSU_processome_Utp14		0.532	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP14C	HGNC	protein_coding	OTTHUMT00000045049.2	C	NM_021645		52604876	+1	no_errors	ENST00000521776	ensembl	human	known	70_37	missense	SNP	0.953	T
VPS25	84313	genome.wustl.edu	37	17	40927461	40927461	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:40927461G>A	ENST00000253794.2	+	4	356	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	106					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		GAGGCCAGAAGAATGGGGGAA	0.458																																																	0													96.0	90.0	92.0					17																	40927461		2203	4300	6503	SO:0001583	missense	84313			AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"""vacuolar protein sorting 25 (yeast)"""			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.316G>A	17.37:g.40927461G>A	ENSP00000253794:p.Glu106Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R581	Missense_Mutation	SNP	pfam_ESCRT-II_cplx_vps25-sub	p.E106K	ENST00000253794.2	37	c.316	CCDS11438.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.215822	0.95104	.	.	ENSG00000131475	ENST00000253794	T	0.50001	0.76	4.76	4.76	0.60689	ESCRT-II complex, Vps25 subunit, C-terminal winged helix (1);	0.049288	0.85682	N	0.000000	T	0.75917	0.3915	M	0.94101	3.495	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	T	0.83285	-0.0036	10	0.66056	D	0.02	-6.8713	17.9606	0.89084	0.0:0.0:1.0:0.0	.	106	Q9BRG1	VPS25_HUMAN	K	106	ENSP00000253794:E106K	ENSP00000253794:E106K	E	+	1	0	VPS25	38180987	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.455000	0.97625	2.477000	0.83638	0.655000	0.94253	GAA	VPS25	-	pfam_ESCRT-II_cplx_vps25-sub		0.458	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS25	HGNC	protein_coding	OTTHUMT00000452383.1	G	NM_032353		40927461	+1	no_errors	ENST00000253794	ensembl	human	known	70_37	missense	SNP	1.000	A
VPS52	6293	genome.wustl.edu	37	6	33237985	33237985	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr6:33237985C>G	ENST00000445902.2	-	2	384	c.166G>C	c.(166-168)Gaa>Caa	p.E56Q	VPS52_ENST00000478934.1_5'UTR|RPS18_ENST00000474973.1_5'Flank|VPS52_ENST00000482399.1_3'UTR|RPS18_ENST00000439602.2_5'Flank|VPS52_ENST00000436044.2_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	56					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CCATCCACTTCATCCAGGATG	0.522																																																	0													153.0	155.0	154.0					6																	33237985		2203	4300	6503	SO:0001583	missense	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.166G>C	6.37:g.33237985C>G	ENSP00000409952:p.Glu56Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	pfam_Vps52,pfam_Exocyst_Exoc1	p.E56Q	ENST00000445902.2	37	c.166	CCDS4770.2	6	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932102	0.34096	.	.	ENSG00000223501	ENST00000445902;ENST00000418054	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.36138	0.0956	L	0.48642	1.525	0.80722	D	1	P	0.35272	0.493	B	0.28991	0.097	T	0.33059	-0.9883	9	0.40728	T	0.16	-14.4295	14.5864	0.68328	0.0:1.0:0.0:0.0	.	56	Q8N1B4	VPS52_HUMAN	Q	56;34	.	ENSP00000414785:E34Q	E	-	1	0	VPS52	33345963	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.435000	0.59941	2.826000	0.97356	0.579000	0.79373	GAA	VPS52	-	NULL		0.522	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS52	HGNC	protein_coding	OTTHUMT00000076598.2	C	NM_022553		33237985	-1	no_errors	ENST00000445902	ensembl	human	known	70_37	missense	SNP	1.000	G
WHSC1L1	54904	genome.wustl.edu	37	8	38205669	38205669	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr8:38205669G>C	ENST00000317025.8	-	2	538	c.21C>G	c.(19-21)ttC>ttG	p.F7L	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.F7L|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.F7L|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.F7L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	7					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TCCCTTGCATGAAAGAGAAAG	0.433			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													126.0	117.0	120.0					8																	38205669		2203	4300	6503	SO:0001583	missense	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.21C>G	8.37:g.38205669G>C	ENSP00000313983:p.Phe7Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.F7L	ENST00000317025.8	37	c.21	CCDS43729.1	8	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011842	0.93346	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985;ENST00000529223;ENST00000534155;ENST00000534539	D;D;D;T;T	0.96651	-4.08;-3.98;-3.97;-0.86;0.34	5.56	5.56	0.83823	.	0.000000	0.51477	U	0.000099	D	0.97390	0.9146	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.76494	0.982;0.99;0.999;0.982	D;D;D;D	0.77557	0.952;0.979;0.99;0.952	D	0.97957	1.0335	10	0.87932	D	0	.	19.8909	0.96929	0.0:0.0:1.0:0.0	.	7;7;7;7	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	L	7	ENSP00000393284:F7L;ENSP00000313983:F7L;ENSP00000434730:F7L;ENSP00000313410:F7L;ENSP00000435422:F7L	ENSP00000313410:F7L	F	-	3	2	WHSC1L1	38324826	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.416000	0.97383	2.765000	0.95021	0.655000	0.94253	TTC	WHSC1L1	-	NULL		0.433	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	G	NM_023034		38205669	-1	no_errors	ENST00000317025	ensembl	human	known	70_37	missense	SNP	1.000	C
WNK4	65266	genome.wustl.edu	37	17	40948022	40948022	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:40948022C>G	ENST00000246914.5	+	16	3423	c.3402C>G	c.(3400-3402)ttC>ttG	p.F1134L	CNTD1_ENST00000588527.1_5'Flank|CNTD1_ENST00000588408.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1134					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ATGAGGAGTTCTGGGCTGAGC	0.567																																					Esophageal Squamous(6;201 374 4964 23855 42828)												0													60.0	58.0	59.0					17																	40948022		2203	4300	6503	SO:0001583	missense	65266			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3402C>G	17.37:g.40948022C>G	ENSP00000246914:p.Phe1134Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F1134L	ENST00000246914.5	37	c.3402	CCDS11439.1	17	.	.	.	.	.	.	.	.	.	.	C	1.813	-0.474068	0.04414	.	.	ENSG00000126562	ENST00000246914	T	0.57595	0.39	5.18	4.17	0.49024	.	0.169277	0.29328	N	0.012474	T	0.22282	0.0537	N	0.05124	-0.11	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.25117	-1.0141	10	0.02654	T	1	-16.1428	5.4008	0.16295	0.1475:0.6335:0.1425:0.0766	.	1134;1134	Q96J92-3;Q96J92	.;WNK4_HUMAN	L	1134	ENSP00000246914:F1134L	ENSP00000246914:F1134L	F	+	3	2	WNK4	38201548	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	0.604000	0.24164	2.412000	0.81896	0.313000	0.20887	TTC	WNK4	-	NULL		0.567	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	HGNC	protein_coding	OTTHUMT00000452389.1	C			40948022	+1	no_errors	ENST00000246914	ensembl	human	known	70_37	missense	SNP	0.997	G
WNK4	65266	genome.wustl.edu	37	17	40948044	40948044	+	Missense_Mutation	SNP	C	C	T	rs371972756		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:40948044C>T	ENST00000246914.5	+	16	3445	c.3424C>T	c.(3424-3426)Cgg>Tgg	p.R1142W	CNTD1_ENST00000588527.1_5'Flank|CNTD1_ENST00000588408.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1142					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCAGAGTCTTCGGCAGAAGTG	0.567																																					Esophageal Squamous(6;201 374 4964 23855 42828)												0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	59.0	59.0	59.0		3424	5.0	1.0	17		59	0,8600		0,0,4300	no	missense	WNK4	NM_032387.4	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1142/1244	40948044	1,13005	2203	4300	6503	SO:0001583	missense	65266			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3424C>T	17.37:g.40948044C>T	ENSP00000246914:p.Arg1142Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R1142W	ENST00000246914.5	37	c.3424	CCDS11439.1	17	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338250	0.41398	2.27E-4	0.0	ENSG00000126562	ENST00000246914	D	0.89485	-2.52	4.96	4.96	0.65561	.	0.000000	0.40222	N	0.001148	D	0.94248	0.8153	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.923	D	0.95014	0.8154	10	0.87932	D	0	-15.074	18.2004	0.89836	0.0:1.0:0.0:0.0	.	1142;1142	Q96J92-3;Q96J92	.;WNK4_HUMAN	W	1142	ENSP00000246914:R1142W	ENSP00000246914:R1142W	R	+	1	2	WNK4	38201570	1.000000	0.71417	0.995000	0.50966	0.738000	0.42128	2.894000	0.48640	2.294000	0.77228	0.313000	0.20887	CGG	WNK4	-	NULL		0.567	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	HGNC	protein_coding	OTTHUMT00000452389.1	C			40948044	+1	no_errors	ENST00000246914	ensembl	human	known	70_37	missense	SNP	1.000	T
XPO1	7514	genome.wustl.edu	37	2	61709528	61709528	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:61709528G>A	ENST00000401558.2	-	23	3686	c.2959C>T	c.(2959-2961)Cct>Tct	p.P987S	RP11-355B11.2_ENST00000605437.1_RNA|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000603199.1_RNA|RP11-355B11.2_ENST00000603652.1_RNA|XPO1_ENST00000404992.2_Missense_Mutation_p.P987S|RP11-355B11.2_ENST00000578974.2_RNA|XPO1_ENST00000406957.1_Missense_Mutation_p.P987S	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	987					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TGTAGGTGAGGGAAGGCCGAC	0.408			Mis		CLL																																		-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	0													127.0	128.0	128.0					2																	61709528		2203	4300	6503	SO:0001583	missense	7514			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2959C>T	2.37:g.61709528G>A	ENSP00000384863:p.Pro987Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.P987S	ENST00000401558.2	37	c.2959	CCDS33205.1	2	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673379	0.67928	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.64803	-0.12;-0.12;-0.12	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.38838	1.175	0.80722	D	1	B;B	0.12013	0.005;0.004	B;B	0.15052	0.012;0.003	T	0.51244	-0.8730	10	0.48119	T	0.1	-15.4604	19.6691	0.95903	0.0:0.0:1.0:0.0	.	634;987	B3KWD0;O14980	.;XPO1_HUMAN	S	987	ENSP00000384863:P987S;ENSP00000385942:P987S;ENSP00000385559:P987S	ENSP00000384863:P987S	P	-	1	0	XPO1	61563032	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.755000	0.98912	2.721000	0.93114	0.591000	0.81541	CCT	XPO1	-	pfam_CRM1_C_dom,superfamily_ARM-type_fold		0.408	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	G	NM_003400		61709528	-1	no_errors	ENST00000401558	ensembl	human	known	70_37	missense	SNP	1.000	A
YTHDC1	91746	genome.wustl.edu	37	4	69179915	69179915	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:69179915C>G	ENST00000344157.4	-	17	2421	c.2086G>C	c.(2086-2088)Gac>Cac	p.D696H	YTHDC1_ENST00000355665.3_Missense_Mutation_p.D678H|YTHDC1_ENST00000579690.1_Missense_Mutation_p.D704H	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	696	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						cgctctctgtctcgtctgtta	0.512																																																	0													85.0	73.0	77.0					4																	69179915		2203	4300	6503	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.2086G>C	4.37:g.69179915C>G	ENSP00000339245:p.Asp696His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.D696H	ENST00000344157.4	37	c.2086	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454507	0.63290	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.29917	1.55;1.55	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.44850	0.1313	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.94	T	0.38887	-0.9640	10	0.56958	D	0.05	.	19.1452	0.93463	0.0:1.0:0.0:0.0	.	678;696	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	H	696;678	ENSP00000339245:D696H;ENSP00000347888:D678H	ENSP00000339245:D696H	D	-	1	0	YTHDC1	68862510	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.830000	0.75319	2.619000	0.88677	0.467000	0.42956	GAC	YTHDC1	-	NULL		0.512	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1	C	NM_133370		69179915	-1	no_errors	ENST00000344157	ensembl	human	known	70_37	missense	SNP	1.000	G
YTHDC1	91746	genome.wustl.edu	37	4	69179929	69179929	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:69179929C>G	ENST00000344157.4	-	17	2407	c.2072G>C	c.(2071-2073)aGa>aCa	p.R691T	YTHDC1_ENST00000355665.3_Missense_Mutation_p.R673T|YTHDC1_ENST00000579690.1_Missense_Mutation_p.R699T	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	691	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						tctgttatctctagggcggtc	0.532																																																	0													86.0	73.0	78.0					4																	69179929		2203	4300	6503	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.2072G>C	4.37:g.69179929C>G	ENSP00000339245:p.Arg691Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.R691T	ENST00000344157.4	37	c.2072	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275766	0.40294	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.28666	1.62;1.6	5.41	5.41	0.78517	.	0.048088	0.85682	D	0.000000	T	0.25975	0.0633	L	0.27053	0.805	0.46631	D	0.999135	P;P	0.40834	0.73;0.61	B;B	0.38755	0.281;0.191	T	0.02190	-1.1198	10	0.35671	T	0.21	.	18.8065	0.92040	0.0:1.0:0.0:0.0	.	673;691	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	T	691;673	ENSP00000339245:R691T;ENSP00000347888:R673T	ENSP00000339245:R691T	R	-	2	0	YTHDC1	68862524	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.080000	0.64437	2.543000	0.85770	0.467000	0.42956	AGA	YTHDC1	-	NULL		0.532	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1	C	NM_133370		69179929	-1	no_errors	ENST00000344157	ensembl	human	known	70_37	missense	SNP	1.000	G
YTHDC1	91746	genome.wustl.edu	37	4	69179971	69179971	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:69179971C>G	ENST00000344157.4	-	17	2365	c.2030G>C	c.(2029-2031)aGa>aCa	p.R677T	YTHDC1_ENST00000355665.3_Missense_Mutation_p.R659T|YTHDC1_ENST00000579690.1_Missense_Mutation_p.R685T	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	677	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ttcACGGGGTCTACTTCTCCG	0.483																																																	0													84.0	73.0	77.0					4																	69179971		2203	4300	6503	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.2030G>C	4.37:g.69179971C>G	ENSP00000339245:p.Arg677Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.R677T	ENST00000344157.4	37	c.2030	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292120	0.59976	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.37584	1.24;1.19	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.49729	0.1574	L	0.29908	0.895	0.58432	D	0.999996	D;D	0.57899	0.981;0.967	D;P	0.66351	0.943;0.879	T	0.52230	-0.8603	10	0.87932	D	0	.	19.1961	0.93690	0.0:1.0:0.0:0.0	.	659;677	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	T	677;659	ENSP00000339245:R677T;ENSP00000347888:R659T	ENSP00000339245:R677T	R	-	2	0	YTHDC1	68862566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.881000	0.69706	2.543000	0.85770	0.467000	0.42956	AGA	YTHDC1	-	NULL		0.483	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1	C	NM_133370		69179971	-1	no_errors	ENST00000344157	ensembl	human	known	70_37	missense	SNP	1.000	G
YTHDC1	91746	genome.wustl.edu	37	4	69188564	69188564	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:69188564G>C	ENST00000344157.4	-	11	1839	c.1504C>G	c.(1504-1506)Cag>Gag	p.Q502E	YTHDC1_ENST00000355665.3_Missense_Mutation_p.Q484E|YTHDC1_ENST00000579690.1_Missense_Mutation_p.Q502E	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	502					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TGAATGACCTGATACAAGTCA	0.443																																																	0													103.0	104.0	103.0					4																	69188564		2203	4300	6503	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1504C>G	4.37:g.69188564G>C	ENSP00000339245:p.Gln502Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.Q502E	ENST00000344157.4	37	c.1504	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579553	0.46006	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.22336	2.0;1.96	6.06	6.06	0.98353	.	0.050994	0.85682	D	0.000000	T	0.42177	0.1191	L	0.51422	1.61	0.80722	D	1	P;B	0.41910	0.764;0.019	D;B	0.63488	0.915;0.05	T	0.01146	-1.1437	10	0.13853	T	0.58	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	484;502	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	E	502;484	ENSP00000339245:Q502E;ENSP00000347888:Q484E	ENSP00000339245:Q502E	Q	-	1	0	YTHDC1	68871159	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.023000	0.93683	2.880000	0.98712	0.650000	0.86243	CAG	YTHDC1	-	NULL		0.443	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1	G	NM_133370		69188564	-1	no_errors	ENST00000344157	ensembl	human	known	70_37	missense	SNP	1.000	C
ZC3H11A	9877	genome.wustl.edu	37	1	203821436	203821436	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:203821436C>T	ENST00000545588.1	+	17	6169	c.2342C>T	c.(2341-2343)tCa>tTa	p.S781L	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.S781L|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.S781L|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.S781L|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.S781L	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	781					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGGGAGATTTCAGGAGGCAAA	0.463																																																	0													54.0	56.0	55.0					1																	203821436		2203	4300	6503	SO:0001583	missense	9877				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2342C>T	1.37:g.203821436C>T	ENSP00000438527:p.Ser781Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	smart_Znf_CCCH	p.S781L	ENST00000545588.1	37	c.2342	CCDS30978.1	1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812061	0.50527	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.69	5.69	0.88448	.	0.136830	0.51477	D	0.000086	T	0.52757	0.1754	M	0.72894	2.215	0.48288	D	0.999627	P	0.39131	0.661	B	0.38378	0.272	T	0.59451	-0.7452	10	0.87932	D	0	-25.6507	18.5924	0.91218	0.0:1.0:0.0:0.0	.	781	O75152	ZC11A_HUMAN	L	781;727;781;781;781;781	ENSP00000356183:S781L;ENSP00000356181:S781L;ENSP00000333253:S781L;ENSP00000438527:S781L;ENSP00000356179:S781L	ENSP00000333253:S781L	S	+	2	0	ZC3H11A	202088059	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	5.987000	0.70571	2.688000	0.91661	0.650000	0.86243	TCA	ZC3H11A	-	NULL		0.463	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3	C	NM_014827		203821436	+1	no_errors	ENST00000332127	ensembl	human	known	70_37	missense	SNP	1.000	T
ZDBF2	57683	genome.wustl.edu	37	2	207171629	207171629	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:207171629G>C	ENST00000374423.3	+	5	2763	c.2377G>C	c.(2377-2379)Gat>Cat	p.D793H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	793							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATAACTTTTGATTCTGATAT	0.383																																																	0													110.0	112.0	111.0					2																	207171629		1887	4113	6000	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2377G>C	2.37:g.207171629G>C	ENSP00000363545:p.Asp793His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.D793H	ENST00000374423.3	37	c.2377	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863984	0.51482	.	.	ENSG00000204186	ENST00000374423	T	0.57595	0.39	4.53	2.72	0.32119	.	0.852258	0.09780	N	0.756758	T	0.60353	0.2262	M	0.62723	1.935	0.27453	N	0.953383	D	0.60575	0.988	P	0.56163	0.793	T	0.50457	-0.8826	10	0.72032	D	0.01	.	5.5849	0.17269	0.0991:0.0:0.7057:0.1952	.	793	Q9HCK1	ZDBF2_HUMAN	H	793	ENSP00000363545:D793H	ENSP00000363545:D793H	D	+	1	0	ZDBF2	206879874	1.000000	0.71417	0.998000	0.56505	0.815000	0.46073	1.578000	0.36525	0.826000	0.34661	0.655000	0.94253	GAT	ZDBF2	-	NULL		0.383	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	G	NM_020923		207171629	+1	no_errors	ENST00000374423	ensembl	human	known	70_37	missense	SNP	0.999	C
ZHX3	23051	genome.wustl.edu	37	20	39832617	39832617	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:39832617C>G	ENST00000309060.3	-	4	1355	c.940G>C	c.(940-942)Gac>Cac	p.D314H	ZHX3_ENST00000544979.2_Missense_Mutation_p.D314H|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.D314H|ZHX3_ENST00000432768.2_Missense_Mutation_p.D314H|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.D314H|ZHX3_ENST00000540170.1_Missense_Mutation_p.D314H			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	314	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CTGTTAGAGTCCATGGCTGCA	0.542																																																	0													106.0	99.0	102.0					20																	39832617		2203	4300	6503	SO:0001583	missense	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.940G>C	20.37:g.39832617C>G	ENSP00000312222:p.Asp314His	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain	p.D314H	ENST00000309060.3	37	c.940	CCDS13315.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.031103|4.031103	0.75504|0.75504	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768|ENST00000421422	T;T;T;T;T|.	0.57273|.	0.41;1.82;1.82;1.58;0.41|.	5.88|5.88	5.88|5.88	0.94601|0.94601	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.82226|0.82226	0.4991|0.4991	M|M	0.80746|0.80746	2.51|2.51	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;1.0|.	T|T	0.81636|0.81636	-0.0843|-0.0843	10|5	0.87932|.	D|.	0|.	-32.6016|-32.6016	20.2422|20.2422	0.98381|0.98381	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	314;314;314|.	A8K8Q0;Q9H4I2;F5H820|.	.;ZHX3_HUMAN;.|.	H|A	314;314;314;314;92;314|22	ENSP00000312222:D314H;ENSP00000362360:D314H;ENSP00000442290:D314H;ENSP00000443783:D314H;ENSP00000415498:D314H|.	ENSP00000312222:D314H|.	D|G	-|-	1|2	0|0	ZHX3|ZHX3	39266031|39266031	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	7.818000|7.818000	0.86416|0.86416	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	GAC|GGA	ZHX3	-	superfamily_Homeodomain-like,smart_Homeodomain		0.542	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	C	NM_015035		39832617	-1	no_errors	ENST00000373263	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF266	10781	genome.wustl.edu	37	19	9524429	9524429	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:9524429C>T	ENST00000592904.1	-	5	3248	c.1172G>A	c.(1171-1173)aGa>aAa	p.R391K	ZNF266_ENST00000588221.1_Missense_Mutation_p.R391K|ZNF266_ENST00000590306.1_Missense_Mutation_p.R391K|ZNF266_ENST00000361151.1_Missense_Mutation_p.R391K|ZNF266_ENST00000588933.1_Missense_Mutation_p.R391K|ZNF266_ENST00000361451.2_Missense_Mutation_p.R391K|ZNF266_ENST00000592292.1_Missense_Mutation_p.R391K			Q14584	ZN266_HUMAN	zinc finger protein 266	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						GCGAGAGGATCTGGCAAAGGC	0.448																																																	0													75.0	76.0	75.0					19																	9524429		2203	4300	6503	SO:0001583	missense	10781			X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.1172G>A	19.37:g.9524429C>T	ENSP00000466714:p.Arg391Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R391K	ENST00000592904.1	37	c.1172	CCDS12213.1	19	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502533	0.44455	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.07114	3.22;3.22	2.53	-5.06	0.02946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04998	0.0134	L	0.38531	1.155	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39840	-0.9594	9	0.33940	T	0.23	.	1.4861	0.02447	0.1282:0.3736:0.2547:0.2435	.	391	Q14584	ZN266_HUMAN	K	391	ENSP00000354680:R391K;ENSP00000355047:R391K	ENSP00000355047:R391K	R	-	2	0	ZNF266	9385429	0.000000	0.05858	0.000000	0.03702	0.940000	0.58332	-3.752000	0.00375	-1.719000	0.01382	0.555000	0.69702	AGA	ZNF266	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF266	HGNC	protein_coding	OTTHUMT00000449033.1	C			9524429	-1	no_errors	ENST00000361151	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF283	284349	genome.wustl.edu	37	19	44352686	44352686	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:44352686G>A	ENST00000324461.7	+	7	2230	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	ZNF283_ENST00000588797.1_Missense_Mutation_p.E506K	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	645					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				ACTTGTTCATGAGAGAACTCA	0.368																																																	0													93.0	98.0	97.0					19																	44352686		1962	4157	6119	SO:0001583	missense	284349			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1933G>A	19.37:g.44352686G>A	ENSP00000327314:p.Glu645Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	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.E645K	ENST00000324461.7	37	c.1933	CCDS46097.1	19	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053396	0.36181	.	.	ENSG00000167637	ENST00000324461	T	0.41758	0.99	2.89	-0.911	0.10507	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17831	0.0428	N	0.10629	0.01	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.06092	-1.0846	9	0.38643	T	0.18	.	3.8047	0.08773	0.2733:0.3314:0.3952:0.0	.	645	Q8N7M2	ZN283_HUMAN	K	645	ENSP00000327314:E645K	ENSP00000327314:E645K	E	+	1	0	ZNF283	49044526	0.000000	0.05858	0.274000	0.24659	0.175000	0.22909	-0.475000	0.06599	0.115000	0.18071	-0.252000	0.11476	GAG	ZNF283	-	NULL		0.368	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF283	HGNC	protein_coding	OTTHUMT00000459909.1	G	NM_181845		44352686	+1	no_errors	ENST00000324461	ensembl	human	known	70_37	missense	SNP	0.949	A
ZNF283	284349	genome.wustl.edu	37	19	44352764	44352764	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:44352764G>C	ENST00000324461.7	+	7	2308	c.2011G>C	c.(2011-2013)Gag>Cag	p.E671Q	ZNF283_ENST00000588797.1_Missense_Mutation_p.E532Q	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	671					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TTACTCAAATGAGAAAATTGA	0.323																																																	0													54.0	57.0	56.0					19																	44352764		1868	4102	5970	SO:0001583	missense	284349			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.2011G>C	19.37:g.44352764G>C	ENSP00000327314:p.Glu671Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	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.E671Q	ENST00000324461.7	37	c.2011	CCDS46097.1	19	.	.	.	.	.	.	.	.	.	.	G	9.941	1.217382	0.22373	.	.	ENSG00000167637	ENST00000324461	T	0.07021	3.23	3.01	-1.4	0.08968	.	.	.	.	.	T	0.02156	0.0067	N	0.02751	-0.505	0.58432	D	0.999999	B	0.27498	0.18	B	0.24848	0.056	T	0.46762	-0.9168	9	0.02654	T	1	.	4.4621	0.11671	0.2917:0.1812:0.5271:0.0	.	671	Q8N7M2	ZN283_HUMAN	Q	671	ENSP00000327314:E671Q	ENSP00000327314:E671Q	E	+	1	0	ZNF283	49044604	0.002000	0.14202	0.005000	0.12908	0.693000	0.40251	0.074000	0.14662	0.044000	0.15775	0.467000	0.42956	GAG	ZNF283	-	NULL		0.323	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF283	HGNC	protein_coding	OTTHUMT00000459909.1	G	NM_181845		44352764	+1	no_errors	ENST00000324461	ensembl	human	known	70_37	missense	SNP	0.870	C
ZNF222	7673	genome.wustl.edu	37	19	44536300	44536300	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:44536300C>T	ENST00000187879.8	+	4	635	c.473C>T	c.(472-474)tCa>tTa	p.S158L	ZNF222_ENST00000391960.3_Missense_Mutation_p.S198L|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TGTTACATCTCAGCCCTTCAT	0.418																																																	0													154.0	160.0	158.0					19																	44536300		2203	4300	6503	SO:0001583	missense	7673			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.473C>T	19.37:g.44536300C>T	ENSP00000187879:p.Ser158Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	G5E9B9|Q8N6G7|Q9P1U5	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.S198L	ENST00000187879.8	37	c.593	CCDS33045.1	19	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675105	0.67928	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.28666	1.6;1.6	2.79	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46425	0.1392	L	0.53249	1.67	0.09310	N	1	D;D	0.67145	0.995;0.996	D;D	0.70016	0.928;0.967	T	0.14868	-1.0457	9	0.66056	D	0.02	.	9.0084	0.36127	0.2213:0.7787:0.0:0.0	.	198;158	G5E9B9;Q9UK12	.;ZN222_HUMAN	L	198;158;104	ENSP00000375822:S198L;ENSP00000187879:S158L	ENSP00000187879:S158L	S	+	2	0	ZNF222	49228140	0.000000	0.05858	0.002000	0.10522	0.847000	0.48162	0.219000	0.17641	1.531000	0.49152	0.205000	0.17691	TCA	ZNF222	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF222	HGNC	protein_coding	OTTHUMT00000460465.2	C			44536300	+1	no_errors	ENST00000391960	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF222	7673	genome.wustl.edu	37	19	44536308	44536308	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:44536308C>G	ENST00000187879.8	+	4	643	c.481C>G	c.(481-483)Cat>Gat	p.H161D	ZNF222_ENST00000391960.3_Missense_Mutation_p.H201D|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				CTCAGCCCTTCATATTCATCA	0.418																																																	0													152.0	158.0	155.0					19																	44536308		2203	4300	6503	SO:0001583	missense	7673			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.481C>G	19.37:g.44536308C>G	ENSP00000187879:p.His161Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	G5E9B9|Q8N6G7|Q9P1U5	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.H201D	ENST00000187879.8	37	c.601	CCDS33045.1	19	.	.	.	.	.	.	.	.	.	.	C	8.146	0.786277	0.16189	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.29142	1.58;1.58	2.79	-1.37	0.09056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13586	0.0329	N	0.13140	0.3	0.09310	N	1	P;B	0.40332	0.713;0.009	B;B	0.38755	0.281;0.014	T	0.13602	-1.0503	9	0.33940	T	0.23	.	1.7321	0.02934	0.4538:0.2719:0.1547:0.1195	.	201;161	G5E9B9;Q9UK12	.;ZN222_HUMAN	D	201;161;107	ENSP00000375822:H201D;ENSP00000187879:H161D	ENSP00000187879:H161D	H	+	1	0	ZNF222	49228148	0.000000	0.05858	0.000000	0.03702	0.814000	0.46013	-3.397000	0.00485	0.049000	0.15920	0.205000	0.17691	CAT	ZNF222	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF222	HGNC	protein_coding	OTTHUMT00000460465.2	C			44536308	+1	no_errors	ENST00000391960	ensembl	human	known	70_37	missense	SNP	0.000	G
ZIM2	23619	genome.wustl.edu	37	19	57301275	57301275	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:57301275C>T	ENST00000391708.3	-	9	984	c.442G>A	c.(442-444)Gag>Aag	p.E148K	ZIM2_ENST00000601070.1_Missense_Mutation_p.E148K|ZIM2_ENST00000221722.5_Missense_Mutation_p.E148K|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.E148K|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.E148K	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TCTAACATCTCTGTGTTCCTC	0.473																																																	0													80.0	68.0	72.0					19																	57301275		2203	4300	6503	SO:0001583	missense	23619			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.442G>A	19.37:g.57301275C>T	ENSP00000375589:p.Glu148Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3K1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E148K	ENST00000391708.3	37	c.442	CCDS33123.1	19	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654266	0.29425	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04551	3.6;3.6	3.34	-6.3	0.02007	.	.	.	.	.	T	0.02342	0.0072	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.49790	-0.8902	8	0.09843	T	0.71	.	14.7662	0.69640	0.0:0.7949:0.0:0.2051	.	148	Q9NZV7	ZIM2_HUMAN	K	148	ENSP00000375589:E148K;ENSP00000221722:E148K	ENSP00000221722:E148K	E	-	1	0	ZIM2	61993087	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-2.348000	0.01094	-1.704000	0.01407	-0.471000	0.05019	GAG	ZIM2	-	NULL		0.473	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM2	HGNC	protein_coding	OTTHUMT00000416094.2	C			57301275	-1	no_errors	ENST00000221722	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF34	80778	genome.wustl.edu	37	8	145999086	145999086	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr8:145999086C>A	ENST00000343459.4	-	6	1313	c.1248G>T	c.(1246-1248)gaG>gaT	p.E416D	ZNF34_ENST00000429371.2_Missense_Mutation_p.E395D			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		TATAGGGTTTCTCTCCAGTGT	0.423																																																	0													47.0	51.0	50.0					8																	145999086		2194	4296	6490	SO:0001583	missense	80778			BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"""Zinc fingers, C2H2-type"", ""-"""	13098	protein-coding gene	gene with protein product		194526	"""zinc finger protein 34 (KOX 32)"""			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.1248G>T	8.37:g.145999086C>A	ENSP00000341528:p.Glu416Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWN1|Q9BSZ0	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.E416D	ENST00000343459.4	37	c.1248	CCDS47945.1	8	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197592	0.58126	.	.	ENSG00000196378	ENST00000449516;ENST00000527190;ENST00000343459;ENST00000429371	T;T	0.26810	1.71;1.71	3.53	0.419	0.16438	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32736	N	0.005706	T	0.32010	0.0815	L	0.37507	1.11	0.26435	N	0.975878	D;D	0.58970	0.984;0.984	P;D	0.63597	0.833;0.916	T	0.09164	-1.0687	10	0.87932	D	0	.	7.7463	0.28871	0.0:0.5672:0.0:0.4328	.	375;416	E7EN25;Q8IZ26	.;ZNF34_HUMAN	D	375;345;416;395	ENSP00000341528:E416D;ENSP00000396894:E395D	ENSP00000341528:E416D	E	-	3	2	ZNF34	145969890	0.143000	0.22626	0.998000	0.56505	0.996000	0.88848	-0.174000	0.09839	0.056000	0.16144	0.561000	0.74099	GAG	ZNF34	-	pfscan_Znf_C2H2		0.423	ZNF34-006	KNOWN	basic|CCDS	protein_coding	ZNF34	HGNC	protein_coding	OTTHUMT00000382936.1	C	NM_030580		145999086	-1	no_errors	ENST00000343459	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF442	79973	genome.wustl.edu	37	19	12461293	12461293	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:12461293C>G	ENST00000242804.4	-	6	1688	c.1106G>C	c.(1105-1107)aGa>aCa	p.R369T	ZNF442_ENST00000438182.1_Missense_Mutation_p.R300T|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	369					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.R369I(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AGTGTGAGTTCTTTCATGACT	0.413																																																	1	Substitution - Missense(1)	large_intestine(1)											190.0	184.0	186.0					19																	12461293		2203	4298	6501	SO:0001583	missense	79973			AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1106G>C	19.37:g.12461293C>G	ENSP00000242804:p.Arg369Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJ48	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.R369T	ENST00000242804.4	37	c.1106	CCDS12271.1	19	.	.	.	.	.	.	.	.	.	.	C	13.24	2.176870	0.38413	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.25414	1.8;1.8	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30293	0.0760	M	0.83312	2.635	0.27952	N	0.937099	P	0.34562	0.457	B	0.34301	0.179	T	0.29027	-1.0025	9	0.62326	D	0.03	.	7.4953	0.27485	0.0:1.0:0.0:0.0	.	369	Q9H7R0	ZN442_HUMAN	T	369;300	ENSP00000242804:R369T;ENSP00000388634:R300T	ENSP00000242804:R369T	R	-	2	0	ZNF442	12322293	0.000000	0.05858	0.661000	0.29709	0.975000	0.68041	-0.282000	0.08445	0.737000	0.32582	0.313000	0.20887	AGA	ZNF442	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF442	HGNC	protein_coding	OTTHUMT00000344109.1	C	NM_030824		12461293	-1	no_errors	ENST00000242804	ensembl	human	known	70_37	missense	SNP	0.940	G
ZNF600	162966	genome.wustl.edu	37	19	53269068	53269068	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:53269068G>A	ENST00000338230.3	-	3	2208	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ATTTGCGACTGAAAACTTTGT	0.368																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)												0													113.0	113.0	113.0					19																	53269068		2203	4300	6503	SO:0001819	synonymous_variant	162966			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1941C>T	19.37:g.53269068G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6MZR0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F647	ENST00000338230.3	37	c.1941	CCDS12856.1	19																																																																																			ZNF600	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	HGNC	protein_coding	OTTHUMT00000463093.1	G	NM_198457		53269068	-1	no_errors	ENST00000338230	ensembl	human	known	70_37	silent	SNP	0.126	A
ZNF419	79744	genome.wustl.edu	37	19	58004285	58004285	+	Silent	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:58004285C>G	ENST00000221735.7	+	5	546	c.360C>G	c.(358-360)ctC>ctG	p.L120L	ZNF419_ENST00000354197.4_Silent_p.L108L|ZNF419_ENST00000415379.2_Silent_p.L74L|ZNF419_ENST00000424930.2_Silent_p.L121L|ZNF419_ENST00000442920.2_Silent_p.L107L|ZNF419_ENST00000426954.2_Silent_p.L108L|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000347466.6_Silent_p.L88L			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TAGGACTGCTCAGTTCAAACA	0.473																																																	0													75.0	76.0	76.0					19																	58004285		2203	4300	6503	SO:0001819	synonymous_variant	79744			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.360C>G	19.37:g.58004285C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Silent	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.L121	ENST00000221735.7	37	c.363	CCDS54326.1	19	.	.	.	.	.	.	.	.	.	.	C	1.026	-0.683364	0.03353	.	.	ENSG00000105136	ENST00000427558	.	.	.	1.45	-1.07	0.09968	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6393	0.04966	0.4876:0.3333:0.0:0.1791	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF419	62696097	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.061000	0.03472	-0.229000	0.09854	0.205000	0.17691	.	ZNF419	-	NULL		0.473	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	HGNC	protein_coding	OTTHUMT00000378506.1	C	NM_024691		58004285	+1	no_errors	ENST00000424930	ensembl	human	known	70_37	silent	SNP	0.000	G
ZNF660	285349	genome.wustl.edu	37	3	44636220	44636220	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:44636220C>G	ENST00000322734.2	+	3	868	c.535C>G	c.(535-537)Caa>Gaa	p.Q179E	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AAACCTTACTCAACATCAGCG	0.413																																																	0													89.0	95.0	93.0					3																	44636220		2203	4300	6503	SO:0001583	missense	285349			AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.535C>G	3.37:g.44636220C>G	ENSP00000324605:p.Gln179Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z331|Q8N9M8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q179E	ENST00000322734.2	37	c.535	CCDS2716.1	3	.	.	.	.	.	.	.	.	.	.	C	9.342	1.063197	0.19987	.	.	ENSG00000144792	ENST00000322734	T	0.16324	2.35	4.21	4.21	0.49690	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07503	0.0189	N	0.04260	-0.245	0.80722	D	1	P	0.43826	0.818	B	0.38156	0.266	T	0.37709	-0.9694	8	.	.	.	.	11.6431	0.51244	0.1784:0.8216:0.0:0.0	.	179	Q6AZW8	ZN660_HUMAN	E	179	ENSP00000324605:Q179E	.	Q	+	1	0	ZNF660	44611224	0.000000	0.05858	1.000000	0.80357	0.969000	0.65631	-0.153000	0.10144	2.319000	0.78375	0.650000	0.86243	CAA	ZNF660	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF660	HGNC	protein_coding	OTTHUMT00000256756.4	C	NM_173658		44636220	+1	no_errors	ENST00000322734	ensembl	human	known	70_37	missense	SNP	0.880	G
ZNF761	388561	genome.wustl.edu	37	19	53960273	53960273	+	RNA	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:53960273G>A	ENST00000454407.1	+	0	2965							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGGCTTTTGGGCATGATTCGC	0.428																																																	0																																												388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53960273G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZNB9	RNA	SNP	-	NULL	ENST00000454407.1	37	NULL		19																																																																																			ZNF761	-	-		0.428	ZNF761-203	KNOWN	basic	processed_transcript	ZNF761	HGNC	processed_transcript		G	NM_001008401		53960273	+1	no_errors	ENST00000334095	ensembl	human	known	70_37	rna	SNP	0.000	A
ZZEF1	23140	genome.wustl.edu	37	17	3989912	3989912	+	Silent	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:3989912G>A	ENST00000381638.2	-	15	2504	c.2380C>T	c.(2380-2382)Ctg>Ttg	p.L794L	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	794							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGTAGCTGCAGAAGCAGGGTT	0.507																																																	0													81.0	80.0	80.0					17																	3989912		2203	4300	6503	SO:0001819	synonymous_variant	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2380C>T	17.37:g.3989912G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.L794	ENST00000381638.2	37	c.2380	CCDS11043.1	17																																																																																			ZZEF1	-	NULL		0.507	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	G	NM_015113		3989912	-1	no_errors	ENST00000381638	ensembl	human	known	70_37	silent	SNP	0.998	A
ZPBP2	124626	genome.wustl.edu	37	17	38024615	38024615	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:38024615G>A	ENST00000348931.4	+	1	199	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	ZPBP2_ENST00000584588.1_Missense_Mutation_p.R3Q|ZPBP2_ENST00000377940.3_Missense_Mutation_p.R3Q	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	3					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCGATGATGCGAACGTGCGTC	0.692																																																	0													83.0	76.0	78.0					17																	38024615		2203	4300	6503	SO:0001583	missense	124626			BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.8G>A	17.37:g.38024615G>A	ENSP00000335384:p.Arg3Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	pfam_Sp38-bd,pfscan_Ig-like	p.R3Q	ENST00000348931.4	37	c.8	CCDS11352.1	17	.	.	.	.	.	.	.	.	.	.	G	8.230	0.804539	0.16467	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.54071	0.61;0.59	4.03	3.02	0.34903	.	0.550372	0.15201	N	0.275039	T	0.54919	0.1888	L	0.50333	1.59	0.22317	N	0.999208	D;D	0.69078	0.997;0.987	P;P	0.54174	0.744;0.478	T	0.40664	-0.9551	10	0.38643	T	0.18	-0.9825	8.823	0.35039	0.0:0.0:0.7655:0.2345	.	3;3	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	Q	3	ENSP00000335384:R3Q;ENSP00000367174:R3Q	ENSP00000335384:R3Q	R	+	2	0	ZPBP2	35278141	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	0.465000	0.22004	1.216000	0.43427	0.580000	0.79431	CGA	ZPBP2	-	NULL		0.692	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZPBP2	HGNC	protein_coding	OTTHUMT00000256609.2	G	NM_198844		38024615	+1	no_errors	ENST00000348931	ensembl	human	known	70_37	missense	SNP	1.000	A
