#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
ACBD4	79777	genome.wustl.edu	37	17	43214086	43214086	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:43214086G>A	ENST00000376955.4	+	4	534	c.237G>A	c.(235-237)atG>atA	p.M79I	ACBD4_ENST00000586346.1_Missense_Mutation_p.M79I|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000321854.8_Missense_Mutation_p.M79I|ACBD4_ENST00000398322.3_Missense_Mutation_p.M79I|ACBD4_ENST00000592162.1_Missense_Mutation_p.M79I|ACBD4_ENST00000591859.1_Missense_Mutation_p.M79I|ACBD4_ENST00000431281.1_Missense_Mutation_p.M79I	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	79	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.						fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						TGGGCAAGATGAGCAGGGAGG	0.612																																																	0													78.0	87.0	84.0					17																	43214086		2039	4178	6217	SO:0001583	missense	79777			BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 4"""				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.237G>A	17.37:g.43214086G>A	ENSP00000366154:p.Met79Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DX64|Q8IUT1|Q9H8Q4	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.M79I	ENST00000376955.4	37	c.237	CCDS45711.1	17	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664412	0.67700	.	.	ENSG00000181513	ENST00000431281;ENST00000321854;ENST00000398322;ENST00000376955	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.15	5.15	0.70609	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	0.044928	0.85682	D	0.000000	T	0.45935	0.1367	L	0.52364	1.645	0.36151	D	0.847446	D;P;D	0.69078	0.984;0.454;0.997	D;B;D	0.75484	0.955;0.192;0.986	T	0.52990	-0.8501	10	0.66056	D	0.02	.	16.1656	0.81754	0.0:0.0:1.0:0.0	.	79;79;79	Q8NC06-3;Q8NC06;Q8NC06-2	.;ACBD4_HUMAN;.	I	79	ENSP00000405969:M79I;ENSP00000314440:M79I;ENSP00000381367:M79I;ENSP00000366154:M79I	ENSP00000314440:M79I	M	+	3	0	ACBD4	40569612	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.037000	0.76531	2.677000	0.91161	0.561000	0.74099	ATG	ACBD4	-	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein		0.612	ACBD4-006	KNOWN	basic|CCDS	protein_coding	ACBD4	HGNC	protein_coding	OTTHUMT00000449816.1	G	NM_024722		43214086	+1	no_errors	ENST00000431281	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAMTS19	171019	genome.wustl.edu	37	5	128887582	128887582	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:128887582G>A	ENST00000274487.4	+	7	1481	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	446	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCACAAAGATGAACCATGTGA	0.299																																																	0													60.0	61.0	60.0					5																	128887582		2201	4291	6492	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1336G>A	5.37:g.128887582G>A	ENSP00000274487:p.Glu446Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E446K	ENST00000274487.4	37	c.1336	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413453	0.62511	.	.	ENSG00000145808	ENST00000274487	T	0.63744	-0.06	3.83	3.83	0.44106	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000004	T	0.64349	0.2590	N	0.16862	0.45	0.49483	D	0.999797	D	0.89917	1.0	D	0.91635	0.999	T	0.63559	-0.6610	9	.	.	.	.	15.6928	0.77469	0.0:0.0:1.0:0.0	.	446	Q8TE59	ATS19_HUMAN	K	446	ENSP00000274487:E446K	.	E	+	1	0	ADAMTS19	128915481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.259000	0.72494	2.432000	0.82394	0.591000	0.81541	GAA	ADAMTS19	-	pfam_Peptidase_M12B,pfam_Pept_M10_metallopeptidase,pfscan_Peptidase_M12B		0.299	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	G	NM_133638		128887582	+1	no_errors	ENST00000274487	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAMTS3	9508	genome.wustl.edu	37	4	73205317	73205317	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr4:73205317C>G	ENST00000286657.4	-	5	791	c.755G>C	c.(754-756)gGa>gCa	p.G252A		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	252					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G252E(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATCGTTTTCTCCCGCGTGTCT	0.493																																					NSCLC(168;1941 2048 2918 13048 43078)												1	Substitution - Missense(1)	breast(1)											271.0	259.0	263.0					4																	73205317		2203	4300	6503	SO:0001583	missense	9508			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.755G>C	4.37:g.73205317C>G	ENSP00000286657:p.Gly252Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G252A	ENST00000286657.4	37	c.755	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	C	1.562	-0.536429	0.04082	.	.	ENSG00000156140	ENST00000286657	T	0.60548	0.18	5.31	5.31	0.75309	.	0.065738	0.64402	D	0.000010	T	0.46092	0.1375	L	0.33485	1.01	0.47819	D	0.999529	B	0.17268	0.021	B	0.15484	0.013	T	0.42189	-0.9466	10	0.06625	T	0.88	.	19.1722	0.93583	0.0:1.0:0.0:0.0	.	252	O15072	ATS3_HUMAN	A	252	ENSP00000286657:G252A	ENSP00000286657:G252A	G	-	2	0	ADAMTS3	73424181	0.044000	0.20184	0.978000	0.43139	0.027000	0.11550	1.532000	0.36029	2.763000	0.94921	0.563000	0.77884	GGA	ADAMTS3	-	NULL		0.493	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	C			73205317	-1	no_errors	ENST00000286657	ensembl	human	known	70_37	missense	SNP	0.994	G
ALOX15B	247	genome.wustl.edu	37	17	7948588	7948588	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:7948588C>G	ENST00000380183.4	+	7	1021	c.882C>G	c.(880-882)atC>atG	p.I294M	ALOX15B_ENST00000380173.2_Missense_Mutation_p.I294M|ALOX15B_ENST00000572022.1_Missense_Mutation_p.I294M|ALOX15B_ENST00000573359.1_Missense_Mutation_p.I294M	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	294	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						ATCACGGCATCCTCTCTGGCA	0.567																																																	0													89.0	91.0	91.0					17																	7948588		2203	4300	6503	SO:0001583	missense	247			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.882C>G	17.37:g.7948588C>G	ENSP00000369530:p.Ile294Met	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.I294M	ENST00000380183.4	37	c.882	CCDS11128.1	17	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514000	0.44763	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	T;T	0.76448	-1.02;-1.02	4.09	-1.25	0.09405	Lipoxygenase, C-terminal (3);	0.458055	0.22507	N	0.059150	T	0.74397	0.3711	M	0.70275	2.135	0.23855	N	0.99665	B;B;B;P	0.37663	0.417;0.364;0.364;0.604	B;B;B;P	0.45712	0.411;0.287;0.287;0.491	T	0.66356	-0.5944	10	0.59425	D	0.04	-23.7066	2.5391	0.04722	0.1444:0.5171:0.1417:0.1968	.	294;294;294;294	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	M	294	ENSP00000369520:I294M;ENSP00000369530:I294M	ENSP00000344337:I294M	I	+	3	3	ALOX15B	7889313	0.000000	0.05858	0.144000	0.22314	0.439000	0.31926	-0.587000	0.05780	-0.035000	0.13691	0.467000	0.42956	ATC	ALOX15B	-	pfam_LipOase_C,superfamily_LipOase_C		0.567	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15B	HGNC	protein_coding	OTTHUMT00000226985.2	C			7948588	+1	no_errors	ENST00000380183	ensembl	human	known	70_37	missense	SNP	0.210	G
APBB1	322	genome.wustl.edu	37	11	6417049	6417049	+	Silent	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr11:6417049G>A	ENST00000609360.1	-	14	2031	c.1932C>T	c.(1930-1932)gcC>gcT	p.A644A	APBB1_ENST00000608704.1_Silent_p.A385A|APBB1_ENST00000609331.1_Silent_p.A409A|APBB1_ENST00000389906.2_Silent_p.A644A|APBB1_ENST00000299402.6_Silent_p.A642A|APBB1_ENST00000530885.1_Silent_p.A422A|APBB1_ENST00000608645.1_Silent_p.A385A|APBB1_ENST00000608394.1_Silent_p.A385A|APBB1_ENST00000311051.3_Silent_p.A642A|APBB1_ENST00000529519.1_Silent_p.A169A|APBB1_ENST00000608655.1_Silent_p.A424A|APBB1_ENST00000526240.1_5'UTR	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	644	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTGAGAGGCTGGCAGCATTGG	0.622																																					GBM(147;1810 2556 5672 39622)												0													64.0	68.0	67.0					11																	6417049		2200	4296	6496	SO:0001819	synonymous_variant	322			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1932C>T	11.37:g.6417049G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Silent	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,pfam_PTB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.A644	ENST00000609360.1	37	c.1932		11																																																																																			APBB1	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.622	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	APBB1	HGNC	protein_coding	OTTHUMT00000471831.1	G	NM_001164		6417049	-1	no_errors	ENST00000389906	ensembl	human	known	70_37	silent	SNP	1.000	A
APH1A	51107	genome.wustl.edu	37	1	150241157	150241157	+	Silent	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:150241157G>A	ENST00000369109.3	-	1	242	c.54C>T	c.(52-54)ttC>ttT	p.F18F	APH1A_ENST00000360244.4_Silent_p.F18F|APH1A_ENST00000414276.2_Silent_p.F18F|C1orf54_ENST00000369102.1_5'UTR|APH1A_ENST00000461320.1_5'UTR	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	18					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|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)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAAAAGCGCGAAGGCCGGGC	0.652																																																	0													24.0	32.0	29.0					1																	150241157		1888	4088	5976	SO:0001819	synonymous_variant	51107			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.54C>T	1.37:g.150241157G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Silent	SNP	pfam_Aph-1	p.F18	ENST00000369109.3	37	c.54	CCDS41390.1	1																																																																																			APH1A	-	pfam_Aph-1		0.652	APH1A-002	KNOWN	basic|CCDS	protein_coding	APH1A	HGNC	protein_coding	OTTHUMT00000035048.1	G	NM_016022		150241157	-1	no_errors	ENST00000369109	ensembl	human	known	70_37	silent	SNP	0.997	A
ARHGAP6	395	genome.wustl.edu	37	X	11157630	11157630	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:11157630C>T	ENST00000337414.4	-	13	3150	c.2278G>A	c.(2278-2280)Gaa>Aaa	p.E760K	ARHGAP6_ENST00000380736.1_Missense_Mutation_p.E557K|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.E557K|ARHGAP6_ENST00000534860.1_Intron	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	760					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GAGCTGCTTTCAAAAATGTCT	0.532																																																	0													10.0	12.0	11.0					X																	11157630		2063	4009	6072	SO:0001583	missense	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2278G>A	X.37:g.11157630C>T	ENSP00000338967:p.Glu760Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E760K	ENST00000337414.4	37	c.2278	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621396	0.66787	.	.	ENSG00000047648	ENST00000380736;ENST00000303025;ENST00000337414	T;T;T	0.26067	1.8;1.8;1.76	5.01	5.01	0.66863	.	0.000000	0.56097	D	0.000035	T	0.29749	0.0743	M	0.67953	2.075	0.80722	D	1	B;B	0.32071	0.355;0.214	B;B	0.24974	0.057;0.031	T	0.11227	-1.0596	10	0.49607	T	0.09	.	17.547	0.87865	0.0:1.0:0.0:0.0	.	760;760	O43182;A8KAL3	RHG06_HUMAN;.	K	557;557;760	ENSP00000370112:E557K;ENSP00000302312:E557K;ENSP00000338967:E760K	ENSP00000302312:E557K	E	-	1	0	ARHGAP6	11067551	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.429000	0.73387	2.071000	0.62044	0.594000	0.82650	GAA	ARHGAP6	-	NULL		0.532	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	C	NM_013427		11157630	-1	no_errors	ENST00000337414	ensembl	human	known	70_37	missense	SNP	1.000	T
ARMC1	55156	genome.wustl.edu	37	8	66525572	66525572	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr8:66525572C>T	ENST00000276569.3	-	4	616	c.372G>A	c.(370-372)atG>atA	p.M124I	ARMC1_ENST00000458464.2_Intron|ARMC1_ENST00000523384.1_Intron	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	124					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)	p.M124I(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			GACGTGAATTCATCTCATTAA	0.398																																																	1	Substitution - Missense(1)	lung(1)											149.0	139.0	143.0					8																	66525572		2203	4300	6503	SO:0001583	missense	55156			BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"""Armadillo repeat containing"""	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.372G>A	8.37:g.66525572C>T	ENSP00000276569:p.Met124Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_HeavyMe-assoc_HMA,pirsf_UCP013899_metal-bd	p.M124I	ENST00000276569.3	37	c.372	CCDS6181.1	8	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522770	0.44866	.	.	ENSG00000104442	ENST00000276569;ENST00000518908	T;T	0.39592	1.07;1.07	6.02	5.14	0.70334	.	0.238814	0.56097	N	0.000028	T	0.40719	0.1128	L	0.51422	1.61	0.80722	D	1	B	0.19817	0.039	B	0.18263	0.021	T	0.16571	-1.0398	10	0.35671	T	0.21	.	16.8946	0.86097	0.1289:0.8711:0.0:0.0	.	124	Q9NVT9	ARMC1_HUMAN	I	124	ENSP00000276569:M124I;ENSP00000429191:M124I	ENSP00000276569:M124I	M	-	3	0	ARMC1	66688126	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.060000	0.30530	1.535000	0.49220	0.655000	0.94253	ATG	ARMC1	-	pirsf_UCP013899_metal-bd		0.398	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC1	HGNC	protein_coding	OTTHUMT00000378480.1	C	NM_018120		66525572	-1	no_errors	ENST00000276569	ensembl	human	known	70_37	missense	SNP	1.000	T
ARSD	414	genome.wustl.edu	37	X	2825157	2825158	+	3'UTR	INS	-	-	AAAA	rs10634744|rs397742096		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:2825157_2825158insAAAA	ENST00000381154.1	-	0	2011_2012				ARSD-AS1_ENST00000414053.1_RNA	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D						cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				cactctgtctcaaaaaagaaag	0.505														717	0.189934	0.1566	0.036	3775	,	,		18580	0.3155		0.0338	False		,,,				2504	0.136																0																																										SO:0001624	3_prime_UTR_variant	414			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.*155->TTTT	X.37:g.2825158_2825161dupAAAA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UHJ8	RNA	INS	-	NULL	ENST00000381154.1	37	NULL	CCDS35196.1	X																																																																																			ARSD	-	-		0.505	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSD	HGNC	protein_coding	OTTHUMT00000055636.1	-			2825158	-1	no_errors	ENST00000495294	ensembl	human	known	70_37	rna	INS	0.277:0.277	AAAA
ATF4	468	genome.wustl.edu	37	22	39917809	39917809	+	Silent	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr22:39917809G>A	ENST00000337304.2	+	2	1140	c.258G>A	c.(256-258)ttG>ttA	p.L86L	ATF4_ENST00000404241.2_Silent_p.L86L|ATF4_ENST00000396680.1_Silent_p.L86L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	86					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)	ATTGGATGTTGGAGAAAATGG	0.488																																																	0													121.0	123.0	122.0					22																	39917809		2203	4300	6503	SO:0001819	synonymous_variant	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.258G>A	22.37:g.39917809G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UH31	Silent	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.L86	ENST00000337304.2	37	c.258	CCDS13996.1	22																																																																																			ATF4	-	NULL		0.488	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATF4	HGNC	protein_coding	OTTHUMT00000321305.1	G	NM_001675		39917809	+1	no_errors	ENST00000337304	ensembl	human	known	70_37	silent	SNP	1.000	A
ATG4A	115201	genome.wustl.edu	37	X	107397094	107397094	+	3'UTR	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:107397094C>G	ENST00000372232.3	+	0	1508				ATG4A_ENST00000489247.1_3'UTR|ATG4A_ENST00000545696.1_3'UTR|ATG4A_ENST00000372254.3_3'UTR|ATG4A_ENST00000345734.3_3'UTR|COL4A6_ENST00000418180.1_Intron	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase						autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						CACTGTTTCTCAGAaaaacaa	0.388																																																	0																																										SO:0001624	3_prime_UTR_variant	115201			AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"""AUT-like 2, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog A (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog A (S. cerevisiae)"""	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.*152C>G	X.37:g.107397094C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	RNA	SNP	-	NULL	ENST00000372232.3	37	NULL	CCDS14538.1	X																																																																																			ATG4A	-	-		0.388	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG4A	HGNC	protein_coding	OTTHUMT00000057860.1	C	NM_052936		107397094	+1	no_errors	ENST00000489247	ensembl	human	putative	70_37	rna	SNP	0.904	G
BRE	9577	genome.wustl.edu	37	2	28521339	28521339	+	Missense_Mutation	SNP	G	G	C	rs376668252		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr2:28521339G>C	ENST00000342045.2	+	12	1210	c.1069G>C	c.(1069-1071)Gaa>Caa	p.E357Q	BRE_ENST00000361704.2_Missense_Mutation_p.E357Q|BRE_ENST00000379624.1_Missense_Mutation_p.E357Q|BRE_ENST00000379632.2_Missense_Mutation_p.E357Q|BRE_ENST00000344773.2_Missense_Mutation_p.E357Q	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					GGATGGAAATGAAATGGCCAA	0.433																																																	0													104.0	104.0	104.0					2																	28521339		2203	4300	6503	SO:0001583	missense	9577			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.1069G>C	2.37:g.28521339G>C	ENSP00000339371:p.Glu357Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Brain/reproduct-express_prot	p.E357Q	ENST00000342045.2	37	c.1069	CCDS1763.1	2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403476	0.83230	.	.	ENSG00000158019	ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379623	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.76118	0.3943	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.67145	0.996;0.981;0.989;0.989	D;D;D;D	0.75484	0.986;0.932;0.969;0.969	T	0.73668	-0.3910	9	0.38643	T	0.18	-24.6372	19.3028	0.94150	0.0:0.0:1.0:0.0	.	357;357;357;357	Q9NXR7-1;Q9NXR7;Q9NXR7-4;Q9NXR7-3	.;BRE_HUMAN;.;.	Q	357;357;357;357;357;259	.	ENSP00000339371:E357Q	E	+	1	0	BRE	28374843	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.837000	0.99465	2.582000	0.87167	0.655000	0.94253	GAA	BRE	-	NULL		0.433	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BRE	HGNC	protein_coding	OTTHUMT00000215114.1	G			28521339	+1	no_errors	ENST00000344773	ensembl	human	known	70_37	missense	SNP	1.000	C
BTBD11	121551	genome.wustl.edu	37	12	108012145	108012145	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr12:108012145C>G	ENST00000280758.5	+	10	2970	c.2442C>G	c.(2440-2442)atC>atG	p.I814M	BTBD11_ENST00000490090.2_Missense_Mutation_p.I814M|BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000357167.4_Missense_Mutation_p.I351M|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	814						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAATTGATATCAGGAGCATAG	0.587																																																	0													58.0	39.0	45.0					12																	108012145		2203	4300	6503	SO:0001583	missense	121551			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2442C>G	12.37:g.108012145C>G	ENSP00000280758:p.Ile814Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.I814M	ENST00000280758.5	37	c.2442	CCDS31893.1	12	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852537	0.51270	.	.	ENSG00000151136	ENST00000280758;ENST00000490090;ENST00000357167	T;T;T	0.45276	1.09;1.12;0.9	5.17	3.05	0.35203	.	0.000000	0.85682	D	0.000000	T	0.54095	0.1837	L	0.60455	1.87	0.80722	D	1	D;D;D	0.71674	0.98;0.998;0.997	D;D;D	0.78314	0.948;0.991;0.932	T	0.55075	-0.8197	10	0.72032	D	0.01	.	6.4716	0.22011	0.2132:0.6165:0.0:0.1704	.	351;814;814	E9PHS4;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	M	814;814;351	ENSP00000280758:I814M;ENSP00000447319:I814M;ENSP00000349690:I351M	ENSP00000280758:I814M	I	+	3	3	BTBD11	106536275	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.823000	0.27366	1.317000	0.45149	0.563000	0.77884	ATC	BTBD11	-	NULL		0.587	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	C	NM_152322		108012145	+1	no_errors	ENST00000280758	ensembl	human	known	70_37	missense	SNP	1.000	G
C14orf166	51637	genome.wustl.edu	37	14	52466482	52466482	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr14:52466482C>T	ENST00000261700.3	+	5	595	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	C14orf166_ENST00000556760.1_Nonsense_Mutation_p.Q144*	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	144					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA transport (GO:0050658)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core binding (GO:0000993)			endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					GCTTCAGATTCAGCGTCATGA	0.343																																																	0													138.0	121.0	127.0					14																	52466482		2203	4300	6503	SO:0001587	stop_gained	51637			AF151857	CCDS9705.1	14q22.1	2014-05-29			ENSG00000087302	ENSG00000087302			23169	protein-coding gene	gene with protein product	"""RLL motif containing 1"""	610858				10810093, 24608264	Standard	NM_016039		Approved	CGI-99, RLLM1, CLE, CLE7, LCRP369	uc010aod.3	Q9Y224	OTTHUMG00000152332	ENST00000261700.3:c.430C>T	14.37:g.52466482C>T	ENSP00000261700:p.Gln144*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_UPF0568	p.Q144*	ENST00000261700.3	37	c.430	CCDS9705.1	14	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901019	0.92035	.	.	ENSG00000087302	ENST00000261700;ENST00000556760;ENST00000553362	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-18.6068	19.7181	0.96131	0.0:1.0:0.0:0.0	.	.	.	.	X	144;144;81	.	ENSP00000261700:Q144X	Q	+	1	0	C14orf166	51536232	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.410000	0.80065	2.664000	0.90586	0.563000	0.77884	CAG	C14orf166	-	pfam_UPF0568		0.343	C14orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf166	HGNC	protein_coding	OTTHUMT00000276887.1	C	NM_016039		52466482	+1	no_errors	ENST00000261700	ensembl	human	known	70_37	nonsense	SNP	1.000	T
C14orf39	317761	genome.wustl.edu	37	14	60945022	60945022	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr14:60945022C>G	ENST00000321731.3	-	5	478	c.319G>C	c.(319-321)Gac>Cac	p.D107H		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	107					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CTATACTTGTCTTTTTCAACA	0.294																																																	0													69.0	68.0	68.0					14																	60945022		2200	4294	6494	SO:0001583	missense	317761			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.319G>C	14.37:g.60945022C>G	ENSP00000324920:p.Asp107His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AQ4	Missense_Mutation	SNP	NULL	p.D107H	ENST00000321731.3	37	c.319	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	C	16.57	3.158844	0.57368	.	.	ENSG00000179008	ENST00000321731;ENST00000555476	T;T	0.55930	1.35;0.49	5.56	5.56	0.83823	.	0.072985	0.64402	D	0.000019	T	0.71651	0.3365	M	0.67953	2.075	0.38387	D	0.945298	D	0.89917	1.0	D	0.91635	0.999	T	0.74581	-0.3618	10	0.62326	D	0.03	.	17.3748	0.87389	0.0:1.0:0.0:0.0	.	107	Q8N1H7	S6OS1_HUMAN	H	107;78	ENSP00000324920:D107H;ENSP00000451665:D78H	ENSP00000324920:D107H	D	-	1	0	C14orf39	60014775	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	4.769000	0.62300	2.771000	0.95319	0.650000	0.86243	GAC	C14orf39	-	NULL		0.294	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	HGNC	protein_coding	OTTHUMT00000276948.1	C	NM_174978		60945022	-1	no_errors	ENST00000321731	ensembl	human	known	70_37	missense	SNP	1.000	G
C2orf16	84226	genome.wustl.edu	37	2	27802554	27802554	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr2:27802554G>A	ENST00000408964.2	+	1	3166	c.3115G>A	c.(3115-3117)Gat>Aat	p.D1039N	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1039						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CATATTTTACGATAGAGAAGA	0.453																																																	0													102.0	105.0	104.0					2																	27802554		2056	4226	6282	SO:0001583	missense	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3115G>A	2.37:g.27802554G>A	ENSP00000386190:p.Asp1039Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.D1039N	ENST00000408964.2	37	c.3115	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	G	4.342	0.062832	0.08388	.	.	ENSG00000221843	ENST00000408964	T	0.05319	3.46	4.73	-1.54	0.08584	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41998	-0.9477	9	0.59425	D	0.04	.	4.4817	0.11771	0.4237:0.1841:0.3922:0.0	.	1039	Q68DN1	CB016_HUMAN	N	1039	ENSP00000386190:D1039N	ENSP00000386190:D1039N	D	+	1	0	C2orf16	27656058	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.246000	0.18160	-0.353000	0.08224	-0.670000	0.03821	GAT	C2orf16	-	NULL		0.453	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	G	NM_032266		27802554	+1	no_errors	ENST00000408964	ensembl	human	known	70_37	missense	SNP	0.000	A
CALM1	801	genome.wustl.edu	37	14	90870837	90870837	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr14:90870837G>A	ENST00000356978.4	+	5	648	c.400G>A	c.(400-402)Gac>Aac	p.D134N	RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000544280.2_Missense_Mutation_p.D98N|CALM1_ENST00000447653.3_Missense_Mutation_p.D135N|CALM1_ENST00000553542.1_Missense_Mutation_p.D98N	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	134	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|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 cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	TATTGATGGAGACGGACAAGT	0.388																																																	0													136.0	129.0	131.0					14																	90870837		2203	4300	6503	SO:0001583	missense	801				CCDS9892.1	14q32.11	2013-02-25			ENSG00000198668	ENSG00000198668	2.7.11.19	"""EF-hand domain containing"", ""Endogenous ligands"""	1442	protein-coding gene	gene with protein product	"""prepro-calmodulin 1"""	114180		CALML2		6385987	Standard	NM_006888		Approved	CAMI, PHKD, DD132	uc001xyl.2	P62158	OTTHUMG00000171044	ENST00000356978.4:c.400G>A	14.37:g.90870837G>A	ENSP00000349467:p.Asp134Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.D134N	ENST00000356978.4	37	c.400	CCDS9892.1	14	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816247	0.50527	.	.	ENSG00000198668	ENST00000557020;ENST00000356978;ENST00000447653;ENST00000553542;ENST00000544280	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	5.45	5.45	0.79879	EF-hand-like domain (1);	0.052039	0.64402	D	0.000001	D	0.85017	0.5601	.	.	.	0.80722	D	1	P;B	0.39748	0.686;0.376	B;P	0.50314	0.267;0.637	D	0.86154	0.1589	9	0.87932	D	0	.	19.2956	0.94120	0.0:0.0:1.0:0.0	.	135;134	E7ETZ0;P62158	.;CALM_HUMAN	N	98;134;135;98;98	ENSP00000451062:D98N;ENSP00000349467:D134N;ENSP00000403491:D135N;ENSP00000450829:D98N;ENSP00000442853:D98N	ENSP00000349467:D134N	D	+	1	0	CALM1	89940590	1.000000	0.71417	0.911000	0.35937	0.993000	0.82548	9.808000	0.99193	2.545000	0.85829	0.650000	0.86243	GAC	CALM1	-	pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.388	CALM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CALM1	HGNC	protein_coding	OTTHUMT00000411346.1	G			90870837	+1	no_errors	ENST00000356978	ensembl	human	known	70_37	missense	SNP	1.000	A
CAMK2N2	94032	genome.wustl.edu	37	3	183978917	183978917	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr3:183978917G>A	ENST00000296238.3	-	1	334	c.157C>T	c.(157-159)Cga>Tga	p.R53*	ECE2_ENST00000402825.3_Intron|EIF2B5_ENST00000444495.1_Intron	NM_033259.2	NP_150284.1	Q96S95	CK2N2_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 2	53	Inhibitory domain. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein kinase inhibitor activity (GO:0008427)					all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)			CGCTTGGCTCGGCCGATCTGG	0.736																																																	0													14.0	18.0	17.0					3																	183978917		2200	4291	6491	SO:0001587	stop_gained	94032			AY037149	CCDS3257.1	3q27.1	2006-03-27			ENSG00000163888	ENSG00000163888			24197	protein-coding gene	gene with protein product		608721				11444830, 9724800	Standard	NM_033259		Approved	CaM-KIIN	uc003fnj.1	Q96S95	OTTHUMG00000156821	ENST00000296238.3:c.157C>T	3.37:g.183978917G>A	ENSP00000296238:p.Arg53*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	NULL	p.R53*	ENST00000296238.3	37	c.157	CCDS3257.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.789842	0.96945	.	.	ENSG00000163888	ENST00000296238	.	.	.	4.01	4.01	0.46588	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7497	9.1468	0.36937	0.0:0.0:0.7821:0.2179	.	.	.	.	X	53	.	ENSP00000296238:R53X	R	-	1	2	CAMK2N2	185461611	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.054000	0.30455	1.783000	0.52377	0.563000	0.77884	CGA	CAMK2N2	-	NULL		0.736	CAMK2N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2N2	HGNC	protein_coding	OTTHUMT00000346010.1	G	NM_033259		183978917	-1	no_errors	ENST00000296238	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CASZ1	54897	genome.wustl.edu	37	1	10720517	10720517	+	Silent	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:10720517C>T	ENST00000377022.3	-	6	899	c.582G>A	c.(580-582)caG>caA	p.Q194Q	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Silent_p.Q194Q	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	194					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCCGCGTGTTCTGGTCATCAT	0.652																																																	0													36.0	39.0	38.0					1																	10720517		2203	4300	6503	SO:0001819	synonymous_variant	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.582G>A	1.37:g.10720517C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q194	ENST00000377022.3	37	c.582	CCDS41246.1	1																																																																																			CASZ1	-	NULL		0.652	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	C	NM_017766		10720517	-1	no_errors	ENST00000377022	ensembl	human	known	70_37	silent	SNP	1.000	T
CATSPERD	257062	genome.wustl.edu	37	19	5729891	5729891	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:5729891delT	ENST00000381624.3	+	4	273	c.212delT	c.(211-213)gttfs	p.V71fs	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	71					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											AGGAAACAAGTTTTTTTCACA	0.323																																																	0													113.0	104.0	107.0					19																	5729891		1811	4063	5874	SO:0001589	frameshift_variant	257062			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.212delT	19.37:g.5729891delT	ENSP00000371037:p.Val71fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZRP1	Frame_Shift_Del	DEL	superfamily_WD40_repeat_dom	p.F73fs	ENST00000381624.3	37	c.212	CCDS12149.2	19																																																																																			CATSPERD	-	NULL		0.323	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	HGNC	protein_coding	OTTHUMT00000286953.2	T	NM_152784		5729891	+1	no_errors	ENST00000381624	ensembl	human	known	70_37	frame_shift_del	DEL	0.840	-
CD22	933	genome.wustl.edu	37	19	35836524	35836524	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:35836524C>G	ENST00000085219.5	+	12	2294	c.2228C>G	c.(2227-2229)tCt>tGt	p.S743C	MIR5196_ENST00000578146.1_RNA|CD22_ENST00000419549.2_Missense_Mutation_p.S571C|CD22_ENST00000594250.1_Missense_Mutation_p.S566C|CD22_ENST00000536635.2_Missense_Mutation_p.S655C|CD22_ENST00000544992.2_Intron|CD22_ENST00000270311.6_Intron|CD22_ENST00000341773.6_Missense_Mutation_p.S566C	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	743					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCCCCCCTCTCTGAAGGCCCC	0.587																																					Ovarian(42;1009 1133 23674 26041)												0													99.0	80.0	86.0					19																	35836524		2203	4300	6503	SO:0001583	missense	933			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2228C>G	19.37:g.35836524C>G	ENSP00000085219:p.Ser743Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S743C	ENST00000085219.5	37	c.2228	CCDS12457.1	19	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339069	0.41398	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000419549	T;T;T;T	0.56103	0.93;0.54;0.48;1.0	4.15	2.94	0.34122	.	1.203230	0.06125	N	0.669485	T	0.66307	0.2776	L	0.57536	1.79	0.09310	N	1	D;D;D;D	0.89917	0.998;0.999;0.998;1.0	P;D;P;D	0.69479	0.747;0.951;0.747;0.964	T	0.44097	-0.9350	10	0.54805	T	0.06	.	6.1433	0.20271	0.0:0.816:0.0:0.184	.	571;655;743;566	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	C	743;655;566;571	ENSP00000085219:S743C;ENSP00000442279:S655C;ENSP00000339349:S566C;ENSP00000403822:S571C	ENSP00000085219:S743C	S	+	2	0	CD22	40528364	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	0.646000	0.24797	0.856000	0.35383	0.462000	0.41574	TCT	CD22	-	NULL		0.587	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1	C	NM_001771		35836524	+1	no_errors	ENST00000085219	ensembl	human	known	70_37	missense	SNP	0.001	G
CLIP2	7461	genome.wustl.edu	37	7	73814818	73814818	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr7:73814818C>T	ENST00000395060.1	+	14	2999	c.2999C>T	c.(2998-3000)gCg>gTg	p.A1000V	CLIP2_ENST00000223398.6_Missense_Mutation_p.A1000V|CLIP2_ENST00000361545.5_Missense_Mutation_p.A965V			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	1000						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CTGCGGGATGCGCTGGACCAG	0.682																																																	0													34.0	36.0	35.0					7																	73814818		2203	4300	6503	SO:0001583	missense	7461			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2999C>T	7.37:g.73814818C>T	ENSP00000378500:p.Ala1000Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O14527|O43611	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.A1000V	ENST00000395060.1	37	c.2999	CCDS5569.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.964255|3.964255	0.74131|0.74131	.|.	.|.	ENSG00000106665|ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060|ENST00000487447	T;T;T|.	0.68025|.	-0.23;-0.3;-0.23|.	4.72|4.72	2.84|2.84	0.33178|0.33178	.|.	0.059832|.	0.64402|.	D|.	0.000003|.	T|T	0.40372|0.40372	0.1114|0.1114	N|N	0.20986|0.20986	0.625|0.625	0.43360|0.43360	D|D	0.995431|0.995431	D;D|.	0.57257|.	0.979;0.964|.	P;B|.	0.49502|.	0.613;0.408|.	T|T	0.11131|0.11131	-1.0600|-1.0600	10|5	0.51188|.	T|.	0.08|.	-7.0186|-7.0186	8.2677|8.2677	0.31824|0.31824	0.0:0.7513:0.1601:0.0886|0.0:0.7513:0.1601:0.0886	.|.	965;1000|.	Q9UDT6-2;Q9UDT6|.	.;CLIP2_HUMAN|.	V|C	1000;1000;965;1000|3	ENSP00000223398:A1000V;ENSP00000355151:A965V;ENSP00000378500:A1000V|.	ENSP00000223398:A1000V|.	A|R	+|+	2|1	0|0	CLIP2|CLIP2	73452754|73452754	0.999000|0.999000	0.42202|0.42202	0.092000|0.092000	0.20876|0.20876	0.970000|0.970000	0.65996|0.65996	4.353000|4.353000	0.59411|0.59411	0.957000|0.957000	0.37930|0.37930	0.456000|0.456000	0.33151|0.33151	GCG|CGC	CLIP2	-	NULL		0.682	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	C	NM_003388		73814818	+1	no_errors	ENST00000223398	ensembl	human	known	70_37	missense	SNP	0.973	T
CNTNAP3B	728577	genome.wustl.edu	37	9	43818172	43818172	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr9:43818172G>C	ENST00000377564.3	+	7	1452	c.1059G>C	c.(1057-1059)caG>caC	p.Q353H	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.Q353H	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	353	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						ACAAACCACAGATCCTCATGA	0.348																																																	0																																										SO:0001583	missense	728577			BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1059G>C	9.37:g.43818172G>C	ENSP00000366787:p.Gln353His	Somatic		WXS	Illumina HiSeq	Phase_IV	B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	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.Q353H	ENST00000377564.3	37	c.1059	CCDS55312.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.46|13.46	2.243410|2.243410	0.39697|0.39697	.|.	.|.	ENSG00000154529|ENSG00000154529	ENST00000377564;ENST00000276974;ENST00000341990;ENST00000403166|ENST00000377561	T;D|.	0.95307|.	-1.27;-3.67|.	2.68|2.68	-0.199|-0.199	0.13220|0.13220	.|.	.|.	.|.	.|.	.|.	T|T	0.64800|0.64800	0.2631|0.2631	M|M	0.88570|0.88570	2.965|2.965	0.30884|0.30884	N|N	0.731098|0.731098	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.64997|0.64997	-0.6275|-0.6275	7|5	0.87932|.	D|.	0|.	.|.	6.8082|6.8082	0.23788|0.23788	0.312:0.0:0.688:0.0|0.312:0.0:0.688:0.0	.|.	.|.	.|.	.|.	H|T	353|402	ENSP00000366787:Q353H;ENSP00000276974:Q353H|.	ENSP00000276974:Q353H|.	Q|R	+|+	3|2	2|0	CNTNAP3B|CNTNAP3B	43758168|43758168	1.000000|1.000000	0.71417|0.71417	0.028000|0.028000	0.17463|0.17463	0.951000|0.951000	0.60555|0.60555	1.572000|1.572000	0.36461|0.36461	-0.173000|-0.173000	0.10761|0.10761	0.413000|0.413000	0.27773|0.27773	CAG|AGA	CNTNAP3B	-	pfscan_Laminin_G		0.348	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3B	HGNC	protein_coding	OTTHUMT00000036930.3	G			43818172	+1	no_errors	ENST00000377564	ensembl	human	known	70_37	missense	SNP	1.000	C
COL4A5	1287	genome.wustl.edu	37	X	107683385	107683385	+	Silent	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:107683385C>T	ENST00000361603.2	+	1	274	c.30C>T	c.(28-30)gcC>gcT	p.A10A	COL4A6_ENST00000545689.1_5'Flank|COL4A6_ENST00000394872.2_5'Flank|COL4A6_ENST00000538570.1_5'Flank|COL4A5_ENST00000328300.6_Silent_p.A10A|COL4A6_ENST00000461897.1_5'Flank|COL4A6_ENST00000372216.4_5'Flank|COL4A6_ENST00000334504.7_5'Flank|COL4A5_ENST00000477429.1_3'UTR	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	10					axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCCTGGCTGCCGGCTTGTTCT	0.607									Alport syndrome with Diffuse Leiomyomatosis																																								0													53.0	42.0	46.0					X																	107683385		2203	4300	6503	SO:0001819	synonymous_variant	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.30C>T	X.37:g.107683385C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.A10	ENST00000361603.2	37	c.30	CCDS14543.1	X																																																																																			COL4A5	-	NULL		0.607	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	C			107683385	+1	no_errors	ENST00000328300	ensembl	human	known	70_37	silent	SNP	1.000	T
CPT1C	126129	genome.wustl.edu	37	19	50204795	50204795	+	Silent	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:50204795C>T	ENST00000392518.4	+	7	969	c.597C>T	c.(595-597)ttC>ttT	p.F199F	CPT1C_ENST00000323446.5_Silent_p.F199F|CPT1C_ENST00000405931.2_Silent_p.F199F|CPT1C_ENST00000598293.1_Silent_p.F199F|CPT1C_ENST00000354199.5_Silent_p.F199F	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	199					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ACGAGGACTTCGACTGGACCG	0.677																																																	0													39.0	35.0	37.0					19																	50204795		2203	4300	6503	SO:0001819	synonymous_variant	126129			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.597C>T	19.37:g.50204795C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Silent	SNP	pfam_Carn_acyl_trans	p.F199	ENST00000392518.4	37	c.597	CCDS12779.1	19																																																																																			CPT1C	-	pfam_Carn_acyl_trans		0.677	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1C	HGNC	protein_coding	OTTHUMT00000465873.1	C	NM_152359		50204795	+1	no_errors	ENST00000323446	ensembl	human	known	70_37	silent	SNP	0.998	T
CROCCP2	84809	genome.wustl.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																																	0																																												84809			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-		0.672	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	T	NR_026752.1		16946407	-1	no_errors	ENST00000412962	ensembl	human	known	70_37	rna	SNP	1.000	G
CRYBG3	131544	genome.wustl.edu	37	3	97655689	97655689	+	Silent	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr3:97655689G>A	ENST00000182096.4	+	16	2662	c.2598G>A	c.(2596-2598)gaG>gaA	p.E866E	CRYBG3_ENST00000389622.2_Silent_p.E73E|CRYBG3_ENST00000485253.1_3'UTR	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2814							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GGCCTAATGAGATCCCAAACT	0.398																																																	0													101.0	92.0	95.0					3																	97655689		1860	4106	5966	SO:0001819	synonymous_variant	131544					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2598G>A	3.37:g.97655689G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Silent	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.E866	ENST00000182096.4	37	c.2598		3																																																																																			CRYBG3	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin		0.398	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1	G	NM_153605		97655689	+1	no_errors	ENST00000182096	ensembl	human	known	70_37	silent	SNP	1.000	A
CSAG4	100130935	genome.wustl.edu	37	X	151896142	151896142	+	RNA	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:151896142G>A	ENST00000361201.4	-	0	588					NR_073432.1				CSAG family, member 4 (pseudogene)											endometrium(2)|kidney(2)|lung(1)	5						TGCCCAAAGAGAGACTGGAGA	0.517																																																	0																																												100130935			BC013171		Xq28	2014-01-21	2012-04-19		ENSG00000242599	ENSG00000242599			20923	pseudogene	pseudogene			"""CSAG family, member 4"""				Standard	NR_073432		Approved				OTTHUMG00000022646		X.37:g.151896142G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000361201.4	37	NULL		X																																																																																			CSAG4	-	-		0.517	CSAG4-001	KNOWN	basic	processed_transcript	CSAG4	HGNC	pseudogene	OTTHUMT00000058758.2	G			151896142	-1	no_errors	ENST00000361201	ensembl	human	known	70_37	rna	SNP	0.000	A
CSF1R	1436	genome.wustl.edu	37	5	149453030	149453030	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:149453030C>G	ENST00000286301.3	-	7	1207	c.916G>C	c.(916-918)Gag>Cag	p.E306Q	CSF1R_ENST00000543093.1_Intron	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	306	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGGTTCTGCTCAGAGCTCAAG	0.507																																																	0													116.0	106.0	109.0					5																	149453030		2203	4300	6503	SO:0001583	missense	1436			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.916G>C	5.37:g.149453030C>G	ENSP00000286301:p.Glu306Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E306Q	ENST00000286301.3	37	c.916	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	C	8.201	0.798260	0.16397	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.77098	-1.07	4.81	3.01	0.34805	Immunoglobulin-like fold (1);	0.272861	0.25813	N	0.028134	T	0.61324	0.2338	L	0.37750	1.13	0.80722	D	1	B;P	0.36465	0.107;0.554	B;B	0.33042	0.041;0.157	T	0.51116	-0.8746	10	0.12430	T	0.62	.	7.7217	0.28736	0.0:0.8001:0.0:0.1999	.	158;306	B4E2Y8;P07333	.;CSF1R_HUMAN	Q	306;158	ENSP00000286301:E306Q	ENSP00000286301:E306Q	E	-	1	0	CSF1R	149433223	0.887000	0.30362	1.000000	0.80357	0.835000	0.47333	0.826000	0.27407	0.439000	0.26476	0.655000	0.94253	GAG	CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt		0.507	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2	C	NM_005211		149453030	-1	no_errors	ENST00000286301	ensembl	human	known	70_37	missense	SNP	1.000	G
CSMD2	114784	genome.wustl.edu	37	1	34076831	34076831	+	Silent	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:34076831C>T	ENST00000373380.1	-	20	2992	c.2772G>A	c.(2770-2772)ctG>ctA	p.L924L	CSMD2_ENST00000373388.2_Silent_p.L150L|CSMD2_ENST00000373381.4_Silent_p.L2051L|CSMD2_ENST00000373377.1_Silent_p.L150L			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2011	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGAGAAGTTCAGGAACTGGA	0.547																																																	0													85.0	89.0	88.0					1																	34076831		2203	4300	6503	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2772G>A	1.37:g.34076831C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.L2051	ENST00000373380.1	37	c.6153		1																																																																																			CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.547	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	C	NM_052896		34076831	-1	no_errors	ENST00000373381	ensembl	human	known	70_37	silent	SNP	1.000	T
CTAGE4	100128553	genome.wustl.edu	37	7	143881197	143881197	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr7:143881197A>G	ENST00000486333.1	+	1	639	c.601A>G	c.(601-603)Agt>Ggt	p.S201G		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	201						integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						ATTTAAAATGAGTGAAGAACG	0.363																																																	0													0.0	1.0	1.0					7																	143881197		0	10	10	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.601A>G	7.37:g.143881197A>G	ENSP00000419539:p.Ser201Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K871|O95046	Missense_Mutation	SNP	superfamily_tRNA-bd_arm	p.S201G	ENST00000486333.1	37	c.601	CCDS55176.1	7	.	.	.	.	.	.	.	.	.	.	.	3.612	-0.079262	0.07141	.	.	ENSG00000225932	ENST00000486333	T	0.39406	1.08	.	.	.	.	.	.	.	.	T	0.32133	0.0819	L	0.43152	1.355	0.09310	N	1	B	0.17852	0.024	B	0.25506	0.061	T	0.30765	-0.9967	7	0.38643	T	0.18	.	.	.	.	.	201	Q8IX94	CTGE4_HUMAN	G	201	ENSP00000419539:S201G	ENSP00000419539:S201G	S	+	1	0	CTAGE4	143512130	0.036000	0.19791	0.033000	0.17914	0.033000	0.12548	1.980000	0.40618	0.129000	0.18514	0.128000	0.15822	AGT	CTAGE4	-	superfamily_tRNA-bd_arm		0.363	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE4	HGNC	protein_coding	OTTHUMT00000349970.1	A	NM_198495		143881197	+1	no_errors	ENST00000486333	ensembl	human	known	70_37	missense	SNP	0.036	G
CUBN	8029	genome.wustl.edu	37	10	16957870	16957870	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr10:16957870G>A	ENST00000377833.4	-	46	7225	c.7160C>T	c.(7159-7161)tCt>tTt	p.S2387F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2387	CUB 17. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAGCCAGAAGAATTCTGAAG	0.408																																																	0													82.0	83.0	83.0					10																	16957870		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7160C>T	10.37:g.16957870G>A	ENSP00000367064:p.Ser2387Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.S2387F	ENST00000377833.4	37	c.7160	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110227	0.77210	.	.	ENSG00000107611	ENST00000377833	T	0.19532	2.14	5.62	5.62	0.85841	CUB (5);	0.000000	0.46442	D	0.000295	T	0.55893	0.1949	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.62177	-0.6909	10	0.62326	D	0.03	.	19.7315	0.96183	0.0:0.0:1.0:0.0	.	2387	O60494	CUBN_HUMAN	F	2387	ENSP00000367064:S2387F	ENSP00000367064:S2387F	S	-	2	0	CUBN	16997876	1.000000	0.71417	0.987000	0.45799	0.568000	0.35870	7.329000	0.79170	2.689000	0.91719	0.644000	0.83932	TCT	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.408	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	G	NM_001081		16957870	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	missense	SNP	1.000	A
CYP2B6	1555	genome.wustl.edu	37	19	41522627	41522627	+	Silent	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:41522627C>T	ENST00000324071.4	+	9	1378	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	CYP2B6_ENST00000593831.1_Silent_p.F221F|CYP2B6_ENST00000330446.5_Silent_p.F257F	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	457					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	TCCAGAACTTCTCCATGGCCA	0.572																																																	0													89.0	66.0	74.0					19																	41522627		2203	4300	6503	SO:0001819	synonymous_variant	1555			AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.1371C>T	19.37:g.41522627C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWP3|Q2V565|Q9UK46	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like	p.F457	ENST00000324071.4	37	c.1371	CCDS12570.1	19																																																																																			CYP2B6	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.572	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2B6	HGNC	protein_coding	OTTHUMT00000463260.1	C	NM_000767		41522627	+1	no_errors	ENST00000324071	ensembl	human	known	70_37	silent	SNP	0.992	T
DGKI	9162	genome.wustl.edu	37	7	137294339	137294339	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr7:137294339G>C	ENST00000288490.5	-	9	1010	c.1010C>G	c.(1009-1011)tCa>tGa	p.S337*	DGKI_ENST00000446122.1_Nonsense_Mutation_p.S337*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.S337*|DGKI_ENST00000453654.2_Nonsense_Mutation_p.S37*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	337					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTTCCGATTTGAAGCCTTCAG	0.453																																																	0													129.0	109.0	116.0					7																	137294339		2203	4300	6503	SO:0001587	stop_gained	9162			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1010C>G	7.37:g.137294339G>C	ENSP00000288490:p.Ser337*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S337*	ENST00000288490.5	37	c.1010	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	G	39	7.869017	0.98534	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	19.6379	0.95744	0.0:0.0:1.0:0.0	.	.	.	.	X	37;285;337;337;337	.	ENSP00000288490:S337X	S	-	2	0	DGKI	136944879	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	7.354000	0.79424	2.657000	0.90304	0.655000	0.94253	TCA	DGKI	-	NULL		0.453	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	G	NM_004717		137294339	-1	no_errors	ENST00000424189	ensembl	human	known	70_37	nonsense	SNP	1.000	C
DENND2A	27147	genome.wustl.edu	37	7	140273623	140273623	+	Silent	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr7:140273623C>T	ENST00000275884.6	-	5	1848	c.1431G>A	c.(1429-1431)aaG>aaA	p.K477K	DENND2A_ENST00000537639.1_Silent_p.K477K|DENND2A_ENST00000496613.1_Silent_p.K477K|DENND2A_ENST00000492720.1_Silent_p.K477K			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	477					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GTATCTTTCTCTTCTTCCTGC	0.512																																																	0													184.0	185.0	184.0					7																	140273623		1963	4148	6111	SO:0001819	synonymous_variant	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1431G>A	7.37:g.140273623C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JUI3|Q1RMD5|Q86XY0	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.K477	ENST00000275884.6	37	c.1431	CCDS43659.1	7																																																																																			DENND2A	-	NULL		0.512	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	C	NM_015689		140273623	-1	no_errors	ENST00000275884	ensembl	human	known	70_37	silent	SNP	1.000	T
DHX57	90957	genome.wustl.edu	37	2	39088417	39088417	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr2:39088417C>T	ENST00000295373.6	-	5	1261	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	379							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GGTAGGTTCTCATTGGTGGAA	0.378																																					Melanoma(191;1090 2095 4375 23729 47341)												0													58.0	56.0	57.0					2																	39088417		2203	4300	6503	SO:0001583	missense	90957			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1135G>A	2.37:g.39088417C>T	ENSP00000295373:p.Glu379Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E379K	ENST00000295373.6	37	c.1135	CCDS1800.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.378648	0.95945	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.22743	1.94	5.55	5.55	0.83447	Ubiquitin-conjugating enzyme/RWD-like (1);RWD domain (1);	0.000000	0.56097	D	0.000030	T	0.40595	0.1123	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.05007	-1.0912	10	0.12430	T	0.62	.	19.5145	0.95157	0.0:1.0:0.0:0.0	.	379;379	Q6P158-2;Q6P158	.;DHX57_HUMAN	K	379;277	ENSP00000295373:E379K	ENSP00000295373:E379K	E	-	1	0	DHX57	38941921	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.812000	0.69194	2.618000	0.88619	0.655000	0.94253	GAG	DHX57	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD		0.378	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	C	NM_145646		39088417	-1	no_errors	ENST00000295373	ensembl	human	known	70_37	missense	SNP	1.000	T
DHX57	90957	genome.wustl.edu	37	2	39088645	39088645	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr2:39088645C>T	ENST00000295373.6	-	5	1033	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	303							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTACAGATTTCAAGTGAATTC	0.358																																					Melanoma(191;1090 2095 4375 23729 47341)												0													76.0	77.0	77.0					2																	39088645		2203	4300	6503	SO:0001583	missense	90957			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.907G>A	2.37:g.39088645C>T	ENSP00000295373:p.Glu303Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E303K	ENST00000295373.6	37	c.907	CCDS1800.1	2	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041881	0.35989	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.51325	0.71	5.78	5.78	0.91487	Zinc finger, CCCH-type (3);RWD domain (1);	0.108387	0.40908	D	0.000990	T	0.31979	0.0814	N	0.14661	0.345	0.34277	D	0.681676	B;B	0.25955	0.138;0.004	B;B	0.23716	0.048;0.01	T	0.42565	-0.9444	10	0.44086	T	0.13	.	13.2363	0.59971	0.0:0.9278:0.0:0.0722	.	303;303	Q6P158-2;Q6P158	.;DHX57_HUMAN	K	303;201	ENSP00000295373:E303K	ENSP00000295373:E303K	E	-	1	0	DHX57	38942149	0.898000	0.30612	0.960000	0.40013	0.660000	0.38997	1.879000	0.39618	2.724000	0.93272	0.563000	0.77884	GAA	DHX57	-	pfam_RWD-domain,pfam_Znf_CCCH,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH		0.358	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	C	NM_145646		39088645	-1	no_errors	ENST00000295373	ensembl	human	known	70_37	missense	SNP	0.974	T
DIRC2	84925	genome.wustl.edu	37	3	122598136	122598136	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr3:122598136C>T	ENST00000261038.5	+	9	1746	c.1348C>T	c.(1348-1350)Ccc>Tcc	p.P450S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	450					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		CTGGTGCCTTCCCGGGTCGTG	0.458																																																	0													329.0	336.0	334.0					3																	122598136		2203	4300	6503	SO:0001583	missense	84925			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.1348C>T	3.37:g.122598136C>T	ENSP00000261038:p.Pro450Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K561|Q8NBX9	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.P450S	ENST00000261038.5	37	c.1348	CCDS3018.1	3	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661622	0.29515	.	.	ENSG00000138463	ENST00000261038	T	0.57107	0.42	5.31	4.44	0.53790	Major facilitator superfamily domain, general substrate transporter (1);	0.108147	0.64402	N	0.000006	T	0.38374	0.1038	L	0.36672	1.1	0.45594	D	0.998534	B	0.20261	0.043	B	0.23419	0.046	T	0.13872	-1.0493	10	0.15499	T	0.54	.	7.7894	0.29112	0.1613:0.7573:0.0:0.0814	.	450	Q96SL1	DIRC2_HUMAN	S	450	ENSP00000261038:P450S	ENSP00000261038:P450S	P	+	1	0	DIRC2	124080826	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.442000	0.59988	1.214000	0.43395	0.650000	0.86243	CCC	DIRC2	-	superfamily_MFS_dom_general_subst_transpt		0.458	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	HGNC	protein_coding	OTTHUMT00000356180.2	C	NM_032839		122598136	+1	no_errors	ENST00000261038	ensembl	human	known	70_37	missense	SNP	1.000	T
DMBT1	1755	genome.wustl.edu	37	10	124348625	124348625	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr10:124348625C>A	ENST00000338354.3	+	17	2055	c.1949C>A	c.(1948-1950)tCa>tAa	p.S650*	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.S650*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.S640*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.S640*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	650	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGGCCACGTCAGCCCCAGGA	0.607																																					Ovarian(182;93 2026 18125 22222 38972)												0													222.0	169.0	187.0					10																	124348625		2016	4115	6131	SO:0001587	stop_gained	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.1949C>A	10.37:g.124348625C>A	ENSP00000342210:p.Ser650*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Nonsense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt	p.S650*	ENST00000338354.3	37	c.1949		10	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558468	0.86231	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	.	.	.	4.19	3.26	0.37387	.	0.331896	0.21803	N	0.068884	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.1085	0.06350	0.1612:0.4416:0.2982:0.099	.	.	.	.	X	650;650;650;650;650;650;640;650;640	.	ENSP00000342210:S650X	S	+	2	0	DMBT1	124338615	0.000000	0.05858	0.007000	0.13788	0.031000	0.12232	-1.385000	0.02540	2.049000	0.60858	0.485000	0.47835	TCA	DMBT1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	C	NM_004406		124348625	+1	no_errors	ENST00000368915	ensembl	human	known	70_37	nonsense	SNP	0.000	A
DNAH17	8632	genome.wustl.edu	37	17	76497914	76497914	+	Silent	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:76497914G>A	ENST00000585328.1	-	34	5347	c.5223C>T	c.(5221-5223)aaC>aaT	p.N1741N	DNAH17-AS1_ENST00000598378.1_3'UTR|RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000389840.5_Silent_p.N1733N	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1733	Stem. {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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGCGTTGAGGTTCCCCATGA	0.592																																																	0													151.0	156.0	154.0					17																	76497914		2191	4285	6476	SO:0001819	synonymous_variant	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5223C>T	17.37:g.76497914G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.N1733	ENST00000585328.1	37	c.5199		17																																																																																			DNAH17	-	NULL		0.592	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	G	NM_173628		76497914	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	silent	SNP	0.121	A
DNAH17	8632	genome.wustl.edu	37	17	76501416	76501416	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:76501416C>T	ENST00000585328.1	-	31	5030	c.4906G>A	c.(4906-4908)Gag>Aag	p.E1636K	DNAH17_ENST00000389840.5_Missense_Mutation_p.E1635K	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1635	Stem. {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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACCATGTACTCGTCCTCCTTG	0.562																																																	0													81.0	82.0	82.0					17																	76501416		2107	4221	6328	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4906G>A	17.37:g.76501416C>T	ENSP00000465516:p.Glu1636Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.E1635K	ENST00000585328.1	37	c.4903		17	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678187	0.88542	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.78126	-1.15	4.02	4.02	0.46733	Dynein heavy chain, domain-2 (1);	.	.	.	.	D	0.93154	0.7820	H	0.99104	4.43	0.50039	D	0.999842	D	0.89917	1.0	D	0.87578	0.998	D	0.96333	0.9245	9	0.87932	D	0	.	16.3311	0.83015	0.0:1.0:0.0:0.0	.	1635	Q9UFH2	DYH17_HUMAN	K	1636;1635	ENSP00000374490:E1635K	ENSP00000300671:E1636K	E	-	1	0	DNAH17	74013011	1.000000	0.71417	0.991000	0.47740	0.639000	0.38242	7.177000	0.77650	2.054000	0.61138	0.555000	0.69702	GAG	DNAH17	-	pfam_Dynein_heavy_dom-2		0.562	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	C	NM_173628		76501416	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH5	1767	genome.wustl.edu	37	5	13900383	13900383	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:13900383C>T	ENST00000265104.4	-	15	2295	c.2191G>A	c.(2191-2193)Gtc>Atc	p.V731I	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	731	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGTGGAGAGACTTCCAGACCC	0.423									Kartagener syndrome																																								0													94.0	100.0	98.0					5																	13900383		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2191G>A	5.37:g.13900383C>T	ENSP00000265104:p.Val731Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	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.V731I	ENST00000265104.4	37	c.2191	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422163	0.25639	.	.	ENSG00000039139	ENST00000265104	T	0.61859	0.07	5.51	4.52	0.55395	Dynein heavy chain, domain-1 (1);	0.053282	0.64402	D	0.000001	T	0.26810	0.0656	N	0.02854	-0.475	0.39667	D	0.970692	B	0.10296	0.003	B	0.24269	0.052	T	0.25676	-1.0125	10	0.17832	T	0.49	.	3.6065	0.08045	0.0:0.6444:0.0:0.3556	.	731	Q8TE73	DYH5_HUMAN	I	731	ENSP00000265104:V731I	ENSP00000265104:V731I	V	-	1	0	DNAH5	13953383	1.000000	0.71417	0.786000	0.31890	0.820000	0.46376	4.733000	0.62036	2.588000	0.87417	0.655000	0.94253	GTC	DNAH5	-	pfam_Dynein_heavy_dom-1		0.423	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	C	NM_001369		13900383	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAJC8	22826	genome.wustl.edu	37	1	28555487	28555487	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:28555487C>G	ENST00000263697.4	-	2	152	c.126G>C	c.(124-126)caG>caC	p.Q42H	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	42					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		GTCTTTCAATCTGATTTTTCG	0.378																																																	0													122.0	107.0	112.0					1																	28555487		1832	4097	5929	SO:0001583	missense	22826			AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"""Heat shock proteins / DNAJ (HSP40)"""	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.126G>C	1.37:g.28555487C>G	ENSP00000263697:p.Gln42His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.Q42H	ENST00000263697.4	37	c.126	CCDS41292.1	1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.755026	0.49362	.	.	ENSG00000126698	ENST00000263697	T	0.23348	1.91	5.16	2.06	0.26882	Heat shock protein DnaJ, N-terminal (2);	0.057555	0.64402	N	0.000001	T	0.27349	0.0671	M	0.73430	2.235	0.80722	D	1	P	0.35468	0.503	B	0.34452	0.183	T	0.08493	-1.0719	10	0.66056	D	0.02	-18.4717	9.1007	0.36667	0.0:0.7347:0.0:0.2653	.	42	O75937	DNJC8_HUMAN	H	42	ENSP00000263697:Q42H	ENSP00000263697:Q42H	Q	-	3	2	DNAJC8	28428074	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.331000	0.33793	0.476000	0.27440	-0.367000	0.07326	CAG	DNAJC8	-	superfamily_DnaJ_N		0.378	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC8	HGNC	protein_coding	OTTHUMT00000009860.1	C	NM_014280		28555487	-1	no_errors	ENST00000263697	ensembl	human	known	70_37	missense	SNP	1.000	G
DPY19L2P1	554236	genome.wustl.edu	37	7	35131356	35131357	+	RNA	DEL	TG	TG	-	rs182353742|rs376288775	byFrequency	TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr7:35131356_35131357delTG	ENST00000436258.1	-	0	2012_2013							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										AGGATGAGTTtgtgtgtgtgtg	0.406																																																	0																																												554236			BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131366_35131367delTG		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2E3	RNA	DEL	-	NULL	ENST00000436258.1	37	NULL		7																																																																																			DPY19L2P1	-	-		0.406	DPY19L2P1-002	KNOWN	basic	processed_transcript	DPY19L2P1	HGNC	pseudogene	OTTHUMT00000338113.1	TG			35131357	-1	no_errors	ENST00000436258	ensembl	human	known	70_37	rna	DEL	0.000:0.000	-
E2F5	1875	genome.wustl.edu	37	8	86127142	86127142	+	IGR	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr8:86127142C>T	ENST00000416274.2	+	0	1728				C8orf59_ENST00000431163.2_Intron|C8orf59_ENST00000524353.1_Intron|E2F5_ENST00000519128.1_3'UTR|C8orf59_ENST00000518562.1_Intron|C8orf59_ENST00000518091.1_Intron|C8orf59_ENST00000458398.2_Intron|C8orf59_ENST00000417663.2_Intron|C8orf59_ENST00000421308.2_Intron	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding						gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						CAAATGATTTCTGCTTACCAG	0.328																																																	0													42.0	41.0	41.0					8																	86127142		1812	4064	5876	SO:0001628	intergenic_variant	1875			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785		8.37:g.86127142C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PBN9|Q16601|Q92756	RNA	SNP	-	NULL	ENST00000416274.2	37	NULL	CCDS47885.1	8																																																																																			E2F5	-	-		0.328	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	E2F5	HGNC	protein_coding	OTTHUMT00000380274.1	C	NM_001951		86127142	+1	no_errors	ENST00000519128	ensembl	human	known	70_37	rna	SNP	0.002	T
EBF4	57593	genome.wustl.edu	37	20	2688657	2688657	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr20:2688657T>C	ENST00000609451.1	+	5	551	c.479T>C	c.(478-480)aTc>aCc	p.I160T	EBF4_ENST00000380648.4_Missense_Mutation_p.I156T			Q9BQW3	COE4_HUMAN	early B-cell factor 4	160					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ACCCATGAGATCATGTGCAGG	0.627																																																	0													157.0	138.0	144.0					20																	2688657		692	1591	2283	SO:0001583	missense	57593			BC019106	CCDS46573.1	20p13	2008-10-23			ENSG00000088881	ENSG00000088881			29278	protein-coding gene	gene with protein product		609935				10718198	Standard	NM_001110514		Approved	KIAA1442, COE4, RP5-860F19.3, O/E-4	uc002wgt.4	Q9BQW3	OTTHUMG00000031709	ENST00000609451.1:c.479T>C	20.37:g.2688657T>C	ENSP00000477023:p.Ile160Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q1MTP7|Q5JY53|Q9NUB6|Q9P2A6	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.I260T	ENST00000609451.1	37	c.779		20	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812362	0.50527	.	.	ENSG00000088881	ENST00000380648;ENST00000342725	T;T	0.53640	0.61;0.61	4.63	4.63	0.57726	.	0.000000	0.56097	D	0.000040	T	0.44095	0.1277	L	0.53249	1.67	0.45025	D	0.998044	B	0.06786	0.001	B	0.15052	0.012	T	0.43814	-0.9368	10	0.62326	D	0.03	-9.4437	12.3026	0.54882	0.0:0.0:0.0:1.0	.	156	E9PEI2	.	T	156;160	ENSP00000370022:I156T;ENSP00000345030:I160T	ENSP00000345030:I160T	I	+	2	0	EBF4	2636657	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.994000	0.88315	1.856000	0.53863	0.533000	0.62120	ATC	EBF4	-	NULL		0.627	EBF4-011	PUTATIVE	basic|appris_candidate_longest	protein_coding	EBF4	HGNC	protein_coding	OTTHUMT00000471930.1	T	XM_938882		2688657	+1	no_errors	ENST00000449079	ensembl	human	known	70_37	missense	SNP	1.000	C
EDC3	80153	genome.wustl.edu	37	15	74963937	74963937	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr15:74963937G>C	ENST00000315127.4	-	3	524	c.343C>G	c.(343-345)Cag>Gag	p.Q115E	EDC3_ENST00000426797.3_Missense_Mutation_p.Q115E|EDC3_ENST00000568176.1_Missense_Mutation_p.Q115E	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	115					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)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GGGATATTCTGAGGGGCACTG	0.532																																																	0													116.0	104.0	108.0					15																	74963937		2197	4296	6493	SO:0001583	missense	80153			BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"""yjeF domain containing (E.coli)"", ""LSM16 homolog (EDC3, S. cerevisiae)"", ""enhancer of mRNA decapping 3 homolog (S. cerevisiae)"""	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.343C>G	15.37:g.74963937G>C	ENSP00000320503:p.Gln115Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom	p.Q115E	ENST00000315127.4	37	c.343	CCDS10267.1	15	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774084	0.31411	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	.	.	.	5.29	5.29	0.74685	.	0.144050	0.48286	D	0.000191	T	0.43678	0.1258	L	0.27053	0.805	0.37687	D	0.923694	B	0.29716	0.255	B	0.26614	0.071	T	0.43130	-0.9410	9	0.10636	T	0.68	-24.0484	17.9228	0.88972	0.0:0.0:1.0:0.0	.	115	Q96F86	EDC3_HUMAN	E	115	.	ENSP00000320503:Q115E	Q	-	1	0	EDC3	72750990	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.516000	0.60496	2.484000	0.83849	0.655000	0.94253	CAG	EDC3	-	NULL		0.532	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC3	HGNC	protein_coding	OTTHUMT00000286399.1	G	NM_025083		74963937	-1	no_errors	ENST00000315127	ensembl	human	known	70_37	missense	SNP	1.000	C
ELOVL5	60481	genome.wustl.edu	37	6	53156762	53156762	+	Splice_Site	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr6:53156762C>G	ENST00000542638.1	-	3	506		c.e3-1		ELOVL5_ENST00000486973.1_Splice_Site|ELOVL5_ENST00000304434.6_Splice_Site|ELOVL5_ENST00000541407.1_Splice_Site|ELOVL5_ENST00000370918.4_Splice_Site			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5						alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					ACTCTAGTATCTGaaaaatta	0.279																																																	0													42.0	45.0	44.0					6																	53156762		2201	4296	6497	SO:0001630	splice_region_variant	60481			AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.59-1G>C	6.37:g.53156762C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Splice_Site	SNP	-	e2-1	ENST00000542638.1	37	c.59-1	CCDS4951.1	6	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354643	0.82243	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0206	0.97499	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELOVL5	53264721	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.324000	0.79115	2.731000	0.93534	0.591000	0.81541	.	ELOVL5	-	-		0.279	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL5	HGNC	protein_coding	OTTHUMT00000043566.1	C	NM_021814	Intron	53156762	-1	no_errors	ENST00000541407	ensembl	human	known	70_37	splice_site	SNP	1.000	G
ENGASE	64772	genome.wustl.edu	37	17	77077040	77077040	+	Missense_Mutation	SNP	C	C	T	rs200445672	byFrequency	TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:77077040C>T	ENST00000579016.1	+	6	757	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	ENGASE_ENST00000539857.2_Missense_Mutation_p.R67W	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	253						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TCCTTTCCTGCGGTACCTCAC	0.567													C|||	7	0.00139776	0.0	0.0	5008	,	,		14230	0.0		0.0	False		,,,				2504	0.0072																0													78.0	84.0	82.0					17																	77077040		2157	4262	6419	SO:0001583	missense	64772			AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.757C>T	17.37:g.77077040C>T	ENSP00000462333:p.Arg253Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	pfam_Glyco_hydro_85,pfscan_BRCT_dom	p.R253W	ENST00000579016.1	37	c.757	CCDS42394.1	17	.	.	.	.	.	.	.	.	.	.	C	9.525	1.109400	0.20714	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	5.0	1.7	0.24286	Glycoside hydrolase, family 85 (1);	0.369996	0.30473	N	0.009551	T	0.44138	0.1279	M	0.85197	2.74	0.29039	N	0.885215	B;B;B	0.33512	0.005;0.208;0.415	B;B;B	0.29663	0.001;0.062;0.105	T	0.43653	-0.9378	8	.	.	.	-13.2285	5.2238	0.15383	0.2613:0.5752:0.0:0.1634	.	67;253;253	B4DVK0;Q8NFI3;Q8NFI3-3	.;ENASE_HUMAN;.	W	253	.	.	R	+	1	2	ENGASE	74588635	0.443000	0.25641	0.602000	0.28890	0.047000	0.14425	1.973000	0.40550	0.636000	0.30508	-0.122000	0.15005	CGG	ENGASE	-	pfam_Glyco_hydro_85		0.567	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENGASE	HGNC	protein_coding	OTTHUMT00000395807.1	C	NM_022759		77077040	+1	no_errors	ENST00000579016	ensembl	human	known	70_37	missense	SNP	0.998	T
RP11-435B5.5	0	genome.wustl.edu	37	1	143398981	143398981	+	lincRNA	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:143398981G>A	ENST00000428624.1	+	0	4990				RP11-435B5.4_ENST00000423249.1_lincRNA																							TTTATTACTGGGCTATTTACA	0.239																																																	0																																												0																															1.37:g.143398981G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			BX004987.5	-	-		0.239	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000238261	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	G			143398981	+1	no_errors	ENST00000458155	ensembl	human	known	70_37	rna	SNP	0.000	A
EPHA4	2043	genome.wustl.edu	37	2	222307723	222307723	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr2:222307723C>T	ENST00000281821.2	-	11	1941	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	EPHA4_ENST00000409938.1_Missense_Mutation_p.E634K|EPHA4_ENST00000392071.4_Missense_Mutation_p.E583K|EPHA4_ENST00000409854.1_Missense_Mutation_p.E634K	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	634	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CTGCATACCTCACCAAATTCA	0.428																																																	0													106.0	105.0	105.0					2																	222307723		2203	4300	6503	SO:0001583	missense	2043			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1900G>A	2.37:g.222307723C>T	ENSP00000281821:p.Glu634Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,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.E634K	ENST00000281821.2	37	c.1900	CCDS2447.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.173107	0.94807	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85665	0.5749	N	0.16016	0.355	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87576	0.2481	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	634	P54764	EPHA4_HUMAN	K	634;634;634;583	ENSP00000281821:E634K;ENSP00000386276:E634K;ENSP00000386829:E634K;ENSP00000375923:E583K	ENSP00000281821:E634K	E	-	1	0	EPHA4	222015967	1.000000	0.71417	0.968000	0.41197	0.944000	0.59088	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GAG	EPHA4	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom		0.428	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	C			222307723	-1	no_errors	ENST00000281821	ensembl	human	known	70_37	missense	SNP	1.000	T
EVI5	7813	genome.wustl.edu	37	1	93159886	93159886	+	Silent	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:93159886C>G	ENST00000370331.1	-	8	1110	c.1101G>C	c.(1099-1101)ctG>ctC	p.L367L	EVI5_ENST00000543509.1_Silent_p.L367L|EVI5_ENST00000540033.1_Silent_p.L367L	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	367	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CAAGTTGCATCAGTTCTGCCT	0.348																																																	0													100.0	98.0	99.0					1																	93159886		2203	4300	6503	SO:0001819	synonymous_variant	7813			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1101G>C	1.37:g.93159886C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKX8|B9A6J0|Q9H1Y9	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L367	ENST00000370331.1	37	c.1101	CCDS30774.1	1																																																																																			EVI5	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom		0.348	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVI5	HGNC	protein_coding	OTTHUMT00000030047.1	C	NM_005665		93159886	-1	no_errors	ENST00000543509	ensembl	human	known	70_37	silent	SNP	0.999	G
EXOC8	149371	genome.wustl.edu	37	1	231472604	231472604	+	Silent	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:231472604C>T	ENST00000360394.2	-	1	974	c.888G>A	c.(886-888)gcG>gcA	p.A296A	EXOC8_ENST00000366645.1_Silent_p.A292A|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000008440.9_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	296					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CTCGAGGGGCCGCTGCCTCCT	0.557																																																	0													82.0	76.0	78.0					1																	231472604		2203	4300	6503	SO:0001819	synonymous_variant	149371			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.888G>A	1.37:g.231472604C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KU33|Q5TE82	Silent	SNP	pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A296	ENST00000360394.2	37	c.888	CCDS1593.1	1																																																																																			EXOC8	-	NULL		0.557	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOC8	HGNC	protein_coding		C	NM_175876		231472604	-1	no_errors	ENST00000360394	ensembl	human	known	70_37	silent	SNP	0.002	T
FAM171A1	221061	genome.wustl.edu	37	10	15255945	15255945	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr10:15255945G>A	ENST00000378116.4	-	8	1648	c.1642C>T	c.(1642-1644)Ctc>Ttc	p.L548F	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	548						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGTCTCTCGAGGTGATCTACT	0.537																																																	0													139.0	140.0	140.0					10																	15255945		2203	4300	6503	SO:0001583	missense	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1642C>T	10.37:g.15255945G>A	ENSP00000367356:p.Leu548Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.L548F	ENST00000378116.4	37	c.1642	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154063	0.57259	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.39406	1.08	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.68044	0.2958	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69840	-0.5036	10	0.72032	D	0.01	-23.2172	19.6296	0.95694	0.0:0.0:1.0:0.0	.	548	Q5VUB5	F1711_HUMAN	F	548;547	ENSP00000367356:L548F	ENSP00000367356:L548F	L	-	1	0	FAM171A1	15295951	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	5.624000	0.67764	2.873000	0.98535	0.563000	0.77884	CTC	FAM171A1	-	pfam_Uncharacterised_FAM171		0.537	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	G	XM_167709		15255945	-1	no_errors	ENST00000378116	ensembl	human	known	70_37	missense	SNP	1.000	A
KIF9	64147	genome.wustl.edu	37	3	47284477	47284477	+	Intron	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr3:47284477C>G	ENST00000265529.3	-	17	2390				KIF9_ENST00000352910.4_Intron|KIF9_ENST00000452770.2_Intron|KIF9_ENST00000444589.2_Intron|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000487440.1_Intron|KIF9_ENST00000335044.2_Intron			Q9HAQ2	KIF9_HUMAN	kinesin family member 9						ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		aggtactcttcacatgttgag	0.398																																					Colon(44;962 1147 15977 24541)												0																																										SO:0001627	intron_variant	285352			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1709+63G>C	3.37:g.47284477C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86Z28|Q9H8A4	RNA	SNP	-	NULL	ENST00000265529.3	37	NULL	CCDS2752.1	3																																																																																			RP11-447D11.2	-	-		0.398	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLJ39534	Clone_based_vega_gene	protein_coding	OTTHUMT00000257475.2	C			47284477	+1	no_errors	ENST00000429315	ensembl	human	known	70_37	rna	SNP	0.000	G
FLNA	2316	genome.wustl.edu	37	X	153580315	153580315	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:153580315C>T	ENST00000369850.3	-	42	7080	c.6844G>A	c.(6844-6846)Gag>Aag	p.E2282K	FLNA_ENST00000344736.4_Missense_Mutation_p.E2242K|FLNA_ENST00000360319.4_Missense_Mutation_p.E2274K|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000422373.1_Missense_Mutation_p.E2274K|FLNA_ENST00000369856.3_Missense_Mutation_p.E415K	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2282					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAAGAGATCTCAGCCTTGCTG	0.612																																																	0													53.0	56.0	55.0					X																	153580315		1956	4153	6109	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6844G>A	X.37:g.153580315C>T	ENSP00000358866:p.Glu2282Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E2282K	ENST00000369850.3	37	c.6844	CCDS48194.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|C	17.27|17.27	3.347007|3.347007	0.61183|0.61183	.|.	.|.	ENSG00000196924|ENSG00000196924	ENST00000369852|ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736;ENST00000444578	.|D;D;D;D;D;D	.|0.92199	.|-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	5.19|5.19	4.32|4.32	0.51571|0.51571	.|Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.94178	.|0.8132	L|L	0.49640|0.49640	1.575|1.575	0.58432|0.58432	D|D	0.999996|0.999996	.|D;P;P;P	.|0.65815	.|0.995;0.545;0.615;0.615	.|D;B;P;P	.|0.71184	.|0.972;0.264;0.462;0.462	.|D	.|0.94171	.|0.7423	.|10	.|0.72032	.|D	.|0.01	.|.	13.9741|13.9741	0.64259|0.64259	0.153:0.847:0.0:0.0|0.153:0.847:0.0:0.0	.|.	.|415;2274;2282;2282	.|E9PHF0;P21333-2;P21333;E9KL45	.|.;.;FLNA_HUMAN;.	.|K	-1|2274;2274;2282;415;2242;222	.|ENSP00000353467:E2274K;ENSP00000416926:E2274K;ENSP00000358866:E2282K;ENSP00000358872:E415K;ENSP00000358863:E2242K;ENSP00000397824:E222K	.|ENSP00000358863:E2242K	.|E	-|-	.|1	.|0	FLNA|FLNA	153233509|153233509	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.905000|0.905000	0.53344|0.53344	7.759000|7.759000	0.85235|0.85235	0.960000|0.960000	0.38005|0.38005	0.529000|0.529000	0.55759|0.55759	.|GAG	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.612	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	C			153580315	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	missense	SNP	1.000	T
GAL	51083	genome.wustl.edu	37	11	68455487	68455487	+	Missense_Mutation	SNP	G	G	T	rs541536020	byFrequency	TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr11:68455487G>T	ENST00000265643.3	+	4	400	c.142G>T	c.(142-144)Gtt>Ttt	p.V48F		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	48					cAMP-mediated signaling (GO:0019933)|feeding behavior (GO:0007631)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of root hair elongation (GO:1902891)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catagen (GO:0051795)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein kinase A signaling (GO:0010737)|regulation of glucocorticoid metabolic process (GO:0031943)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|secretory granule (GO:0030141)	neuropeptide hormone activity (GO:0005184)|type 1 galanin receptor binding (GO:0031764)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)	p.V48I(1)		lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		AACAGATGCCGTTGGCAACCA	0.572																																																	1	Substitution - Missense(1)	lung(1)											85.0	70.0	75.0					11																	68455487		2200	4294	6494	SO:0001583	missense	51083			L11144	CCDS8183.1	11q13.2	2013-02-26	2012-10-23		ENSG00000069482	ENSG00000069482		"""Endogenous ligands"""	4114	protein-coding gene	gene with protein product	"""galanin-message-associated peptide"", ""galanin/GMAP prepropeptide"""	137035	"""galanin"", ""galanin prepropeptide"""	GALN		7508413	Standard	XM_006718580		Approved	GMAP, GAL-GMAP, GLNN	uc001oob.3	P22466	OTTHUMG00000167890	ENST00000265643.3:c.142G>T	11.37:g.68455487G>T	ENSP00000265643:p.Val48Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14413	Missense_Mutation	SNP	pfam_GMAP,pfam_Galanin,smart_Galanin_pre,prints_Galanin	p.V48F	ENST00000265643.3	37	c.142	CCDS8183.1	11	.	.	.	.	.	.	.	.	.	.	G	9.925	1.213181	0.22289	.	.	ENSG00000069482	ENST00000265643	T	0.54866	0.55	4.03	-4.7	0.03288	Galanin (3);	0.454983	0.22311	N	0.061727	T	0.40862	0.1134	L	0.38175	1.15	0.09310	N	1	D	0.54772	0.968	P	0.48921	0.595	T	0.46373	-0.9196	10	0.72032	D	0.01	-13.9433	7.2548	0.26171	0.2661:0.1582:0.5756:0.0	.	48	P22466	GALA_HUMAN	F	48	ENSP00000265643:V48F	ENSP00000265643:V48F	V	+	1	0	GAL	68212063	0.007000	0.16637	0.022000	0.16811	0.016000	0.09150	-0.378000	0.07446	-0.856000	0.04120	-0.136000	0.14681	GTT	GAL	-	pfam_Galanin,smart_Galanin_pre,prints_Galanin		0.572	GAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL	HGNC	protein_coding	OTTHUMT00000396843.2	G	NM_001479		68455487	+1	no_errors	ENST00000265643	ensembl	human	known	70_37	missense	SNP	0.001	T
GEMIN5	25929	genome.wustl.edu	37	5	154272068	154272068	+	Silent	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:154272068C>T	ENST00000285873.7	-	25	3714	c.3639G>A	c.(3637-3639)ctG>ctA	p.L1213L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1213					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTGTTGGCTCAGCACTGCCA	0.587																																																	0													61.0	55.0	57.0					5																	154272068		2203	4300	6503	SO:0001819	synonymous_variant	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.3639G>A	5.37:g.154272068C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L1213	ENST00000285873.7	37	c.3639	CCDS4330.1	5																																																																																			GEMIN5	-	NULL		0.587	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	HGNC	protein_coding	OTTHUMT00000252507.1	C			154272068	-1	no_errors	ENST00000285873	ensembl	human	known	70_37	silent	SNP	1.000	T
GGH	8836	genome.wustl.edu	37	8	63948246	63948246	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr8:63948246C>G	ENST00000260118.6	-	2	595	c.193G>C	c.(193-195)Gag>Cag	p.E65Q		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	65	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	CCTGCAGACTCCAAGTACTTT	0.353																																																	0													117.0	111.0	113.0					8																	63948246		2203	4300	6503	SO:0001583	missense	8836			U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.193G>C	8.37:g.63948246C>G	ENSP00000260118:p.Glu65Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_C26,pfam_GATASE_1	p.E65Q	ENST00000260118.6	37	c.193	CCDS6177.1	8	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595711	0.86953	.	.	ENSG00000137563	ENST00000260118;ENST00000517622	T	0.48522	0.81	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.65138	-0.6241	10	0.32370	T	0.25	-13.5146	17.6477	0.88153	0.0:1.0:0.0:0.0	.	65	Q92820	GGH_HUMAN	Q	65;26	ENSP00000260118:E65Q	ENSP00000260118:E65Q	E	-	1	0	GGH	64110800	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.328000	0.65887	2.907000	0.99374	0.609000	0.83330	GAG	GGH	-	pfam_Peptidase_C26,pfam_GATASE_1		0.353	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGH	HGNC	protein_coding	OTTHUMT00000378453.1	C			63948246	-1	no_errors	ENST00000260118	ensembl	human	known	70_37	missense	SNP	1.000	G
GOT2	2806	genome.wustl.edu	37	16	58752559	58752559	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:58752559G>C	ENST00000245206.5	-	5	597	c.469C>G	c.(469-471)Ctg>Gtg	p.L157V	GOT2_ENST00000434819.2_Missense_Mutation_p.L114V|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	157					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	GGTTTGGGCAGAAAGACATCT	0.428																																																	0													89.0	83.0	85.0					16																	58752559		2198	4300	6498	SO:0001583	missense	2806				CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"""kynurenine aminotransferase IV"", ""aspartate aminotransferase 2"", ""aspartate transaminase 2"""	138150	"""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"""			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.469C>G	16.37:g.58752559G>C	ENSP00000245206:p.Leu157Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Asp_trans	p.L157V	ENST00000245206.5	37	c.469	CCDS10801.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.99|15.99	2.996502|2.996502	0.54147|0.54147	.|.	.|.	ENSG00000125166|ENSG00000125166	ENST00000425685|ENST00000245206;ENST00000434819	.|D;D	.|0.89415	.|-2.51;-2.51	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83533|0.83533	0.5275|0.5275	N|N	0.21508|0.21508	0.67|0.67	0.80722|0.80722	D|D	1|1	.|B;B	.|0.16802	.|0.003;0.019	.|B;B	.|0.26864	.|0.074;0.038	T|T	0.77175|0.77175	-0.2684|-0.2684	5|9	.|.	.|.	.|.	-0.7201|-0.7201	18.8967|18.8967	0.92426|0.92426	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|114;157	.|E7ERW2;P00505	.|.;AATM_HUMAN	L|V	117|157;114	.|ENSP00000245206:L157V;ENSP00000394100:L114V	.|.	F|L	-|-	3|1	2|2	GOT2|GOT2	57310060|57310060	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.944000|0.944000	0.59088|0.59088	7.807000|7.807000	0.86032|0.86032	2.723000|2.723000	0.93209|0.93209	0.561000|0.561000	0.74099|0.74099	TTC|CTG	GOT2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.428	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOT2	HGNC	protein_coding	OTTHUMT00000258289.3	G			58752559	-1	no_errors	ENST00000245206	ensembl	human	known	70_37	missense	SNP	1.000	C
GPATCH8	23131	genome.wustl.edu	37	17	42475272	42475272	+	Silent	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:42475272G>A	ENST00000591680.1	-	8	4203	c.4173C>T	c.(4171-4173)atC>atT	p.I1391I	GPATCH8_ENST00000434000.1_Silent_p.I1313I	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1391							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGTGAATGCCGATGGCGGCAG	0.572																																																	0													79.0	68.0	72.0					17																	42475272		2203	4300	6503	SO:0001819	synonymous_variant	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.4173C>T	17.37:g.42475272G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGP9|O60300|Q8TB99	Silent	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.I1391	ENST00000591680.1	37	c.4173	CCDS32666.1	17																																																																																			GPATCH8	-	NULL		0.572	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	G	NM_001002909		42475272	-1	no_errors	ENST00000591680	ensembl	human	known	70_37	silent	SNP	0.991	A
GPR116	221395	genome.wustl.edu	37	6	46828610	46828610	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr6:46828610G>C	ENST00000283296.7	-	16	2509	c.2221C>G	c.(2221-2223)Cag>Gag	p.Q741E	GPR116_ENST00000545669.1_Missense_Mutation_p.Q170E|GPR116_ENST00000362015.4_Missense_Mutation_p.Q741E|GPR116_ENST00000456426.2_Missense_Mutation_p.Q599E|GPR116_ENST00000265417.7_Missense_Mutation_p.Q741E	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	741					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATCTCATCCTGAGAGGGGCTC	0.423																																					NSCLC(59;410 1274 8751 36715 50546)												0													75.0	74.0	74.0					6																	46828610		2203	4300	6503	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2221C>G	6.37:g.46828610G>C	ENSP00000283296:p.Gln741Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.Q741E	ENST00000283296.7	37	c.2221	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	G	9.495	1.101825	0.20632	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.26373	1.77;2.15;1.78;1.77;1.74	5.68	5.68	0.88126	.	0.236188	0.30003	N	0.010642	T	0.23289	0.0563	M	0.72118	2.19	0.31086	N	0.711312	P;B;P;P;P	0.45768	0.622;0.394;0.61;0.866;0.495	B;B;B;P;B	0.48598	0.364;0.119;0.104;0.583;0.139	T	0.15464	-1.0436	10	0.18276	T	0.48	-5.4759	15.296	0.73910	0.0:0.0:1.0:0.0	.	170;296;741;599;741	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	E	741;741;741;599;112;741;170	ENSP00000283296:Q741E;ENSP00000354563:Q741E;ENSP00000412866:Q599E;ENSP00000265417:Q741E;ENSP00000441581:Q170E	ENSP00000265417:Q741E	Q	-	1	0	GPR116	46936569	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	4.113000	0.57851	2.689000	0.91719	0.655000	0.94253	CAG	GPR116	-	NULL		0.423	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	G	NM_015234		46828610	-1	no_errors	ENST00000265417	ensembl	human	known	70_37	missense	SNP	0.990	C
HELZ	9931	genome.wustl.edu	37	17	65134104	65134104	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:65134104C>G	ENST00000358691.5	-	22	3062	c.2896G>C	c.(2896-2898)Gaa>Caa	p.E966Q	HELZ_ENST00000580168.1_Missense_Mutation_p.E967Q	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	966						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTTCGAAGTTCAGCACGTATT	0.383																																																	0													205.0	208.0	207.0					17																	65134104		2091	4221	6312	SO:0001583	missense	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2896G>C	17.37:g.65134104C>G	ENSP00000351524:p.Glu966Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	I6L9H4	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E966Q	ENST00000358691.5	37	c.2896	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840320	0.51057	.	.	ENSG00000198265	ENST00000358691	D	0.82344	-1.6	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.87775	0.6262	L	0.38953	1.18	0.80722	D	1	D;D	0.89917	1.0;0.99	D;D	0.79784	0.993;0.952	D	0.89009	0.3427	10	0.72032	D	0.01	-16.334	18.8583	0.92262	0.0:1.0:0.0:0.0	.	967;966	B7ZLW2;P42694	.;HELZ_HUMAN	Q	966	ENSP00000351524:E966Q	ENSP00000351524:E966Q	E	-	1	0	HELZ	62564566	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.487000	0.81328	2.437000	0.82529	0.655000	0.94253	GAA	HELZ	-	NULL		0.383	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	C	NM_014877		65134104	-1	no_errors	ENST00000358691	ensembl	human	known	70_37	missense	SNP	1.000	G
HIPK4	147746	genome.wustl.edu	37	19	40890035	40890035	+	Silent	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:40890035G>A	ENST00000291823.2	-	2	761	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	159	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGGCGGATCCGAAGTCAATCA	0.632																																																	0													49.0	52.0	51.0					19																	40890035		2203	4300	6503	SO:0001819	synonymous_variant	147746			BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.477C>T	19.37:g.40890035G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K863|Q96M54	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.F159	ENST00000291823.2	37	c.477	CCDS12555.1	19																																																																																			HIPK4	-	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		0.632	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIPK4	HGNC	protein_coding	OTTHUMT00000462593.1	G	NM_144685		40890035	-1	no_errors	ENST00000291823	ensembl	human	known	70_37	silent	SNP	0.818	A
HK3	3101	genome.wustl.edu	37	5	176314515	176314515	+	Nonsense_Mutation	SNP	G	G	A	rs573086536	byFrequency	TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:176314515G>A	ENST00000292432.5	-	11	1628	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	513	Catalytic.|Hexokinase type-1 2.			LR -> SE (in Ref. 4; AAC50422). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCTCCCCTCGGAGCCCCTTG	0.662													G|||	2	0.000399361	0.0	0.0	5008	,	,		16500	0.002		0.0	False		,,,				2504	0.0																0													33.0	32.0	32.0					5																	176314515		2203	4300	6503	SO:0001587	stop_gained	3101				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1537C>T	5.37:g.176314515G>A	ENSP00000292432:p.Arg513*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N1E7	Nonsense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.R513*	ENST00000292432.5	37	c.1537	CCDS4407.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.893470	0.97074	.	.	ENSG00000160883	ENST00000292432	.	.	.	4.3	4.3	0.51218	.	0.761307	0.11248	N	0.583896	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.6941	6.2866	0.21037	0.1028:0.1899:0.7073:0.0	.	.	.	.	X	513	.	ENSP00000292432:R513X	R	-	1	2	HK3	176247121	0.025000	0.19082	0.405000	0.26409	0.985000	0.73830	0.238000	0.18004	1.936000	0.56123	0.462000	0.41574	CGA	HK3	-	pfam_Hexokinase_N		0.662	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK3	HGNC	protein_coding	OTTHUMT00000253428.1	G			176314515	-1	no_errors	ENST00000292432	ensembl	human	known	70_37	nonsense	SNP	0.039	A
HSP90AB1	3326	genome.wustl.edu	37	6	44218333	44218333	+	Silent	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr6:44218333C>T	ENST00000371554.1	+	6	1168	c.954C>T	c.(952-954)gtC>gtT	p.V318V	HSP90AB1_ENST00000353801.3_Silent_p.V318V|HSP90AB1_ENST00000371646.5_Silent_p.V318V			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	318					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTTGGCAGTCAAGGTGTGAG	0.473																																																	0													59.0	56.0	57.0					6																	44218333		2203	4300	6503	SO:0001819	synonymous_variant	3326			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.954C>T	6.37:g.44218333C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Silent	SNP	pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N	p.V318	ENST00000371554.1	37	c.954	CCDS4909.1	6																																																																																			HSP90AB1	-	pfam_Hsp90,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90		0.473	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSP90AB1	HGNC	protein_coding	OTTHUMT00000040730.1	C	NM_007355		44218333	+1	no_errors	ENST00000353801	ensembl	human	known	70_37	silent	SNP	1.000	T
IGDCC3	9543	genome.wustl.edu	37	15	65621255	65621255	+	Missense_Mutation	SNP	C	C	T	rs372840863		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr15:65621255C>T	ENST00000327987.4	-	14	2688	c.2437G>A	c.(2437-2439)Gaa>Aaa	p.E813K	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	813					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCTACTGTTCCGAGTGAGCT	0.632																																																	0													26.0	32.0	30.0					15																	65621255		2153	4238	6391	SO:0001583	missense	9543			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2437G>A	15.37:g.65621255C>T	ENSP00000332773:p.Glu813Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O95215	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E813K	ENST00000327987.4	37	c.2437	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314563	0.40996	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.66638	-0.22	5.26	3.38	0.38709	.	.	.	.	.	T	0.42653	0.1212	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21518	-1.0243	9	0.26408	T	0.33	3.6233	2.2141	0.03955	0.1577:0.5178:0.1529:0.1717	.	813	Q8IVU1	IGDC3_HUMAN	K	813;636	ENSP00000332773:E813K	ENSP00000332773:E813K	E	-	1	0	IGDCC3	63408308	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.112000	0.15479	0.596000	0.29794	0.650000	0.86243	GAA	IGDCC3	-	NULL		0.632	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	HGNC	protein_coding	OTTHUMT00000256826.1	C	NM_004884		65621255	-1	no_errors	ENST00000327987	ensembl	human	known	70_37	missense	SNP	0.000	T
IGLL5	100423062	genome.wustl.edu	37	22	23237847	23237847	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr22:23237847G>T	ENST00000526893.1	+	3	892	c.618G>T	c.(616-618)aaG>aaT	p.K206N	IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR|IGLJ1_ENST00000390320.2_RNA|IGLL5_ENST00000532223.2_Missense_Mutation_p.K207N	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	206	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCGTGGAGAAGACAGTGGCCC	0.617																																																	0													59.0	63.0	62.0					22																	23237847		2202	4294	6496	SO:0001583	missense	100423062			M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"""Immunoglobulin superfamily / C1-set domain containing"""	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.618G>T	22.37:g.23237847G>T	ENSP00000431254:p.Lys206Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	p.K207N	ENST00000526893.1	37	c.621	CCDS54506.1	22	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050236	0.55218	.	.	ENSG00000254709	ENST00000532223;ENST00000526893	T;T	0.00617	6.19;6.19	4.2	4.2	0.49525	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05686	0.0149	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01356	-1.1376	9	0.87932	D	0	.	14.3687	0.66823	0.0:0.0:1.0:0.0	.	206	B9A064	IGLL5_HUMAN	N	207;206	ENSP00000436353:K207N;ENSP00000431254:K206N	ENSP00000431254:K206N	K	+	3	2	IGLL5	21567847	0.998000	0.40836	0.575000	0.28536	0.509000	0.34042	3.056000	0.49923	2.284000	0.76573	0.650000	0.86243	AAG	IGLL5	-	pfscan_Ig-like		0.617	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	IGLL5	HGNC	protein_coding	OTTHUMT00000385699.1	G	NM_001178126		23237847	+1	no_errors	ENST00000532223	ensembl	human	known	70_37	missense	SNP	0.885	T
IL13RA2	3598	genome.wustl.edu	37	X	114245323	114245323	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:114245323C>T	ENST00000371936.1	-	7	839	c.590G>A	c.(589-591)tGc>tAc	p.C197Y	IL13RA2_ENST00000243213.1_Missense_Mutation_p.C197Y			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	197	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						GGGAAATCTGCATCCTATATT	0.358																																																	0													107.0	97.0	101.0					X																	114245323		2203	4299	6502	SO:0001583	missense	3598			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.590G>A	X.37:g.114245323C>T	ENSP00000361004:p.Cys197Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7E2|O00667	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.C197Y	ENST00000371936.1	37	c.590	CCDS14565.1	X	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487428	0.63962	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	D;D	0.99961	-9.31;-9.31	5.29	5.29	0.74685	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99964	0.9986	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95378	0.8470	10	0.87932	D	0	-13.4836	12.9359	0.58313	0.0:1.0:0.0:0.0	.	197;197	D0EFR8;Q14627	.;I13R2_HUMAN	Y	197	ENSP00000361004:C197Y;ENSP00000243213:C197Y	ENSP00000243213:C197Y	C	-	2	0	IL13RA2	114151579	1.000000	0.71417	0.990000	0.47175	0.951000	0.60555	4.551000	0.60740	2.452000	0.82932	0.544000	0.68410	TGC	IL13RA2	-	pfam_IL6_recept-bd,superfamily_Fibronectin_type3		0.358	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA2	HGNC	protein_coding	OTTHUMT00000057966.1	C	NM_000640		114245323	-1	no_errors	ENST00000243213	ensembl	human	known	70_37	missense	SNP	0.991	T
IL1R1	3554	genome.wustl.edu	37	2	102793102	102793102	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr2:102793102G>A	ENST00000410023.1	+	12	1911	c.1593G>A	c.(1591-1593)tgG>tgA	p.W531*	IL1R1_ENST00000409929.1_Nonsense_Mutation_p.W500*|IL1R1_ENST00000409589.1_Intron|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000233946.3_Nonsense_Mutation_p.W531*			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	531	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CAAGGTTCTGGAAGAATGTCA	0.483																																																	0													69.0	66.0	67.0					2																	102793102		2203	4300	6503	SO:0001587	stop_gained	3554			M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1593G>A	2.37:g.102793102G>A	ENSP00000386380:p.Trp531*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q587I7	Nonsense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1R_rcpt,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.W531*	ENST00000410023.1	37	c.1593	CCDS2055.1	2	.	.	.	.	.	.	.	.	.	.	G	38	7.271412	0.98179	.	.	ENSG00000115594	ENST00000409929;ENST00000410023;ENST00000233946	.	.	.	5.82	4.93	0.64822	.	0.058685	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1621	0.81727	0.0:0.0:0.8657:0.1343	.	.	.	.	X	500;531;531	.	ENSP00000233946:W531X	W	+	3	0	IL1R1	102159534	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.124000	0.77185	1.419000	0.47118	0.557000	0.71058	TGG	IL1R1	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1		0.483	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R1	HGNC	protein_coding	OTTHUMT00000253299.1	G			102793102	+1	no_errors	ENST00000233946	ensembl	human	known	70_37	nonsense	SNP	1.000	A
IFNL3	282617	genome.wustl.edu	37	19	39735130	39735130	+	Missense_Mutation	SNP	T	T	A	rs199677823		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:39735130T>A	ENST00000413851.2	-	2	223	c.185A>T	c.(184-186)gAg>gTg	p.E62V	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	62					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CAGAAGCGACTCTTCCTAGAC	0.617																																																	0													24.0	32.0	29.0					19																	39735130		2201	4298	6499	SO:0001583	missense	282617			AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.185A>T	19.37:g.39735130T>A	ENSP00000409000:p.Glu62Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	NULL	p.E62V	ENST00000413851.2	37	c.185	CCDS12530.1	19	.	.	.	.	.	.	.	.	.	.	T	15.47	2.841941	0.51057	.	.	ENSG00000197110	ENST00000413851	T	0.37058	1.22	3.01	3.01	0.34805	.	0.775606	0.11634	N	0.544460	T	0.55625	0.1932	M	0.81239	2.535	0.09310	N	1	D	0.59357	0.985	P	0.61201	0.885	T	0.41270	-0.9518	10	0.87932	D	0	-10.0409	7.6568	0.28379	0.0:0.0:0.0:1.0	.	62	Q8IZI9	IL28B_HUMAN	V	62	ENSP00000409000:E62V	ENSP00000409000:E62V	E	-	2	0	IL28B	44426970	0.007000	0.16637	0.052000	0.19188	0.307000	0.27823	1.388000	0.34442	1.388000	0.46506	0.172000	0.16884	GAG	IL28B	-	NULL		0.617	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL28B	HGNC	protein_coding	OTTHUMT00000463832.1	T	NM_172139		39735130	-1	no_errors	ENST00000413851	ensembl	human	known	70_37	missense	SNP	0.035	A
IRAK1	3654	genome.wustl.edu	37	X	153282519	153282519	+	Splice_Site	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:153282519C>T	ENST00000369980.3	-	8	1077		c.e8-1		IRAK1_ENST00000369974.2_Splice_Site|IRAK1_ENST00000393687.2_Splice_Site|IRAK1_ENST00000429936.2_Splice_Site|IRAK1_ENST00000393682.1_Splice_Site|MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000477274.1_Splice_Site	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1						activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|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)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|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)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGCCTGGGTCTGGGGTGGCA	0.607																																																	0													62.0	66.0	65.0					X																	153282519		2203	4300	6503	SO:0001630	splice_region_variant	3654			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.910-1G>A	X.37:g.153282519C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Splice_Site	SNP	-	e8-1	ENST00000369980.3	37	c.910-1	CCDS14740.1	X	.	.	.	.	.	.	.	.	.	.	.	7.477	0.647872	0.14516	.	.	ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936;ENST00000443220	.	.	.	4.83	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.20703	N	0.999862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3543	0.26711	0.3161:0.5263:0.1576:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IRAK1	152935713	0.040000	0.19996	0.018000	0.16275	0.583000	0.36354	1.647000	0.37260	0.818000	0.34468	-0.353000	0.07706	.	IRAK1	-	-		0.607	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1	HGNC	protein_coding	OTTHUMT00000061143.3	C		Intron	153282519	-1	no_errors	ENST00000369980	ensembl	human	known	70_37	splice_site	SNP	0.004	T
KAT6A	7994	genome.wustl.edu	37	8	41906386	41906386	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr8:41906386G>T	ENST00000396930.3	-	3	653	c.110C>A	c.(109-111)tCt>tAt	p.S37Y	KAT6A_ENST00000265713.2_Missense_Mutation_p.S37Y|KAT6A_ENST00000406337.1_Missense_Mutation_p.S37Y|KAT6A_ENST00000485568.1_Missense_Mutation_p.S37Y	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	37	Required for activation of RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ATGGGATGAAGACACAGCATT	0.388																																																	0													226.0	213.0	218.0					8																	41906386		2203	4300	6503	SO:0001583	missense	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.110C>A	8.37:g.41906386G>T	ENSP00000380136:p.Ser37Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S37Y	ENST00000396930.3	37	c.110	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392128	0.42410	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.84730	0.15;0.15;0.15;-1.89	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000002	D	0.90861	0.7129	L	0.54323	1.7	0.58432	D	0.999998	D;D	0.76494	0.997;0.999	D;D	0.68192	0.929;0.956	D	0.91107	0.4919	10	0.72032	D	0.01	-13.1176	19.7395	0.96220	0.0:0.0:1.0:0.0	.	37;37	A5PLL3;Q92794	.;KAT6A_HUMAN	Y	37	ENSP00000265713:S37Y;ENSP00000385888:S37Y;ENSP00000380136:S37Y;ENSP00000430606:S37Y	ENSP00000265713:S37Y	S	-	2	0	KAT6A	42025543	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.365000	0.79537	2.669000	0.90835	0.655000	0.94253	TCT	KAT6A	-	NULL		0.388	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	G	NM_006766		41906386	-1	no_errors	ENST00000265713	ensembl	human	known	70_37	missense	SNP	1.000	T
KAT8	84148	genome.wustl.edu	37	16	31141434	31141434	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:31141434G>C	ENST00000543774.2	+	8	1203	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	RP11-388M20.2_ENST00000563605.1_RNA|KAT8_ENST00000219797.4_Missense_Mutation_p.E290Q|KAT8_ENST00000448516.2_Missense_Mutation_p.E290Q			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	290	MYST-type HAT.|Sufficient for interaction with KANSL1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										CATCCTGACTGAGGTGGACCG	0.562																																																	0													186.0	194.0	191.0					16																	31141434		2197	4300	6497	SO:0001583	missense	84148			AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.868G>C	16.37:g.31141434G>C	ENSP00000456933:p.Glu290Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.E290Q	ENST00000543774.2	37	c.868	CCDS10706.1	16	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267809	0.80469	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	.	.	.	5.47	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.78181	0.4243	M	0.75264	2.295	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77004	0.981;0.989;0.981	T	0.80804	-0.1219	9	0.62326	D	0.03	-32.9328	14.941	0.70994	0.0:0.1443:0.8557:0.0	.	290;290;290	Q9H7Z6-2;Q9H7Z6;G5E9P2	.;KAT8_HUMAN;.	Q	290	.	ENSP00000219797:E290Q	E	+	1	0	KAT8	31048935	1.000000	0.71417	0.652000	0.29579	0.871000	0.50021	7.775000	0.85489	1.269000	0.44280	0.561000	0.74099	GAG	KAT8	-	pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase		0.562	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KAT8	HGNC	protein_coding	OTTHUMT00000255546.3	G	NM_032188		31141434	+1	no_errors	ENST00000448516	ensembl	human	known	70_37	missense	SNP	0.999	C
KCNB1	3745	genome.wustl.edu	37	20	47989992	47989992	+	Missense_Mutation	SNP	G	G	A	rs144379782		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr20:47989992G>A	ENST00000371741.4	-	2	2271	c.2105C>T	c.(2104-2106)gCg>gTg	p.A702V		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	702	Poly-Ala.				energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GACAGCAGCCGCAGCACTCCC	0.592																																																	0													34.0	35.0	34.0					20																	47989992		2203	4300	6503	SO:0001583	missense	3745			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2105C>T	20.37:g.47989992G>A	ENSP00000360806:p.Ala702Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14193	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,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_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.A702V	ENST00000371741.4	37	c.2105	CCDS13418.1	20	.	.	.	.	.	.	.	.	.	.	G	3.140	-0.176561	0.06380	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	T	0.22539	1.95	4.77	4.77	0.60923	.	1.437530	0.03974	N	0.292181	T	0.11537	0.0281	N	0.08118	0	0.35798	D	0.822955	P	0.40431	0.717	B	0.24269	0.052	T	0.24512	-1.0158	10	0.30078	T	0.28	.	14.0209	0.64555	0.0:0.0:1.0:0.0	.	702	Q14721	KCNB1_HUMAN	V	702;657	ENSP00000360806:A702V	ENSP00000360806:A702V	A	-	2	0	KCNB1	47423399	0.997000	0.39634	0.852000	0.33557	0.269000	0.26545	4.223000	0.58587	2.578000	0.87016	0.655000	0.94253	GCG	KCNB1	-	pfam_K_chnl_volt-dep_Kv2		0.592	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB1	HGNC	protein_coding	OTTHUMT00000080374.3	G	NM_004975		47989992	-1	no_errors	ENST00000371741	ensembl	human	known	70_37	missense	SNP	0.910	A
KCNQ5	56479	genome.wustl.edu	37	6	73904187	73904187	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr6:73904187G>A	ENST00000370398.1	+	14	1958	c.1849G>A	c.(1849-1851)Gaa>Aaa	p.E617K	KCNQ5_ENST00000342056.2_Missense_Mutation_p.E636K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.E618K|KCNQ5_ENST00000403813.2_Missense_Mutation_p.E608K|KCNQ5_ENST00000402622.2_Missense_Mutation_p.E627K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.E617K|KCNQ5_ENST00000414165.2_Missense_Mutation_p.E507K	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	617					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	ACAGTCCATAGAATCCAAGCT	0.408																																					GBM(142;1375 1859 14391 23261 44706)												0													65.0	61.0	62.0					6																	73904187		2203	4300	6503	SO:0001583	missense	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1849G>A	6.37:g.73904187G>A	ENSP00000359425:p.Glu617Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.E627K	ENST00000370398.1	37	c.1879	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655207	0.88056	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99709	-6.48;-6.48;-6.48;-6.48;-6.48;-6.48;-6.48	5.58	5.58	0.84498	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.052883	0.64402	D	0.000001	D	0.99691	0.9883	M	0.78049	2.395	0.46113	D	0.998873	D;D;D;D;D	0.89917	0.993;1.0;0.966;0.958;0.996	P;D;P;P;D	0.79108	0.786;0.987;0.897;0.835;0.992	D	0.98050	1.0387	10	0.66056	D	0.02	.	19.5623	0.95376	0.0:0.0:1.0:0.0	.	507;627;636;608;617	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	K	636;636;617;617;627;618;608;507	ENSP00000345055:E636K;ENSP00000347326:E617K;ENSP00000359425:E617K;ENSP00000385501:E627K;ENSP00000347853:E618K;ENSP00000384453:E608K;ENSP00000409861:E507K	ENSP00000345055:E636K	E	+	1	0	KCNQ5	73960908	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	9.869000	0.99810	2.620000	0.88729	0.561000	0.74099	GAA	KCNQ5	-	pfam_K_chnl_volt-dep_KCNQ_C		0.408	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	G	NM_019842		73904187	+1	no_errors	ENST00000402622	ensembl	human	known	70_37	missense	SNP	1.000	A
KIF4B	285643	genome.wustl.edu	37	5	154393426	154393426	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:154393426G>A	ENST00000435029.4	+	1	167	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	3					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GATCATGAAGGAAGAGGTGAA	0.577																																																	0													118.0	114.0	116.0					5																	154393426		2203	4300	6503	SO:0001583	missense	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.7G>A	5.37:g.154393426G>A	ENSP00000387875:p.Glu3Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E3K	ENST00000435029.4	37	c.7	CCDS47324.1	5	.	.	.	.	.	.	.	.	.	.	g	16.72	3.200870	0.58234	.	.	ENSG00000226650	ENST00000435029	T	0.70399	-0.48	1.48	0.577	0.17385	.	.	.	.	.	T	0.68128	0.2967	L	0.31578	0.945	0.41605	D	0.98887	D	0.76494	0.999	D	0.70935	0.971	T	0.62015	-0.6943	9	0.24483	T	0.36	.	5.8511	0.18694	0.1942:0.0:0.8058:0.0	.	3	Q2VIQ3	KIF4B_HUMAN	K	3	ENSP00000387875:E3K	ENSP00000387875:E3K	E	+	1	0	KIF4B	154373619	0.997000	0.39634	0.969000	0.41365	0.661000	0.39034	1.974000	0.40559	0.196000	0.20367	-0.251000	0.11542	GAA	KIF4B	-	NULL		0.577	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	G			154393426	+1	no_errors	ENST00000435029	ensembl	human	known	70_37	missense	SNP	1.000	A
KLHL42	57542	genome.wustl.edu	37	12	27944650	27944650	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr12:27944650C>G	ENST00000381271.2	+	2	1193	c.882C>G	c.(880-882)ttC>ttG	p.F294L		NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	294					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GGTCTAACTTCAAACTTGTGG	0.443																																																	0													191.0	184.0	187.0					12																	27944650		2203	4300	6503	SO:0001583	missense	57542			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.882C>G	12.37:g.27944650C>G	ENSP00000370671:p.Phe294Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2VPK1|Q8N334	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like	p.F294L	ENST00000381271.2	37	c.882	CCDS31763.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.920|6.920	0.539487|0.539487	0.13250|0.13250	.|.	.|.	ENSG00000087448|ENSG00000087448	ENST00000381271|ENST00000543254	T|.	0.67523|.	-0.27|.	4.86|4.86	4.86|4.86	0.63082|0.63082	Kelch-type beta propeller (1);|.	0.087960|.	0.64402|.	D|.	0.000008|.	T|T	0.44008|0.44008	0.1273|0.1273	N|N	0.17764|0.17764	0.52|0.52	0.53005|0.53005	D|D	0.999963|0.999963	B|.	0.21071|.	0.051|.	B|.	0.23716|.	0.048|.	T|T	0.28106|0.28106	-1.0054|-1.0054	10|5	0.40728|.	T|.	0.16|.	.|.	12.6485|12.6485	0.56748|0.56748	0.0:0.9179:0.0:0.0821|0.0:0.9179:0.0:0.0821	.|.	294|.	Q9P2K6|.	KLDC5_HUMAN|.	L|E	294|116	ENSP00000370671:F294L|.	ENSP00000370671:F294L|.	F|Q	+|+	3|1	2|0	KLHDC5|KLHDC5	27835917|27835917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.507000|1.507000	0.35758|0.35758	2.505000|2.505000	0.84491|0.84491	0.650000|0.650000	0.86243|0.86243	TTC|CAA	KLHDC5	-	pfam_Kelch_1,smart_Kelch_1		0.443	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC5	HGNC	protein_coding	OTTHUMT00000402904.1	C	NM_020782		27944650	+1	no_errors	ENST00000381271	ensembl	human	known	70_37	missense	SNP	1.000	G
KLHL2	11275	genome.wustl.edu	37	4	166235222	166235222	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr4:166235222G>C	ENST00000226725.6	+	13	1772	c.1513G>C	c.(1513-1515)Gat>Cat	p.D505H	KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000538127.1_Missense_Mutation_p.D417H|KLHL2_ENST00000506761.1_Missense_Mutation_p.D339H|KLHL2_ENST00000514860.1_Missense_Mutation_p.D509H|KLHL2_ENST00000421009.2_Missense_Mutation_p.D408H	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	505					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)		AGGAGGTCATGATGGCCCTTT	0.388																																																	0													264.0	238.0	247.0					4																	166235222		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.1513G>C	4.37:g.166235222G>C	ENSP00000226725:p.Asp505His	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.D505H	ENST00000226725.6	37	c.1513	CCDS34094.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.115184	0.94339	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39	6.13	6.13	0.99165	Galactose oxidase, beta-propeller (1);	0.044702	0.85682	D	0.000000	D	0.91442	0.7299	M	0.85099	2.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.993	D	0.91353	0.5106	10	0.87932	D	0	.	20.8599	0.99761	0.0:0.0:1.0:0.0	.	509;505;505	B4DFH7;B2RD18;O95198	.;.;KLHL2_HUMAN	H	505;509;417;408;339	ENSP00000226725:D505H;ENSP00000424198:D509H;ENSP00000437526:D417H;ENSP00000408974:D408H;ENSP00000424108:D339H	ENSP00000226725:D505H	D	+	1	0	KLHL2	166454672	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.865000	0.99609	2.937000	0.99478	0.650000	0.86243	GAT	KLHL2	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.388	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLHL2	HGNC	protein_coding	OTTHUMT00000364439.1	G			166235222	+1	no_errors	ENST00000226725	ensembl	human	known	70_37	missense	SNP	1.000	C
KSR1	8844	genome.wustl.edu	37	17	25932695	25932695	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:25932695G>A	ENST00000319524.6	+	15	1916	c.1916G>A	c.(1915-1917)cGc>cAc	p.R639H	KSR1_ENST00000268763.6_Missense_Mutation_p.R502H|KSR1_ENST00000509603.2_Missense_Mutation_p.R617H|KSR1_ENST00000398988.3_Missense_Mutation_p.R502H			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	639	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GTGGCCATTCGCCTGCTGGAG	0.652																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)												0													15.0	18.0	17.0					17																	25932695		2008	4158	6166	SO:0001583	missense	8844			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1916G>A	17.37:g.25932695G>A	ENSP00000323178:p.Arg639His	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R639H	ENST00000319524.6	37	c.1916		17	.	.	.	.	.	.	.	.	.	.	G	36	5.712142	0.96830	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T;T;T	0.46451	0.87;0.87;0.87	5.67	5.67	0.87782	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63486	0.2515	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;0.971	D;P	0.97110	1.0;0.449	T	0.64457	-0.6403	10	0.87932	D	0	.	18.7549	0.91828	0.0:0.0:1.0:0.0	.	637;617	Q8IVT5;F5H0K8	KSR1_HUMAN;.	H	639;617;502;502	ENSP00000323178:R639H;ENSP00000438795:R617H;ENSP00000268763:R502H	ENSP00000268763:R502H	R	+	2	0	KSR1	22956822	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.715000	0.98748	2.681000	0.91329	0.655000	0.94253	CGC	KSR1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.652	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	KSR1	HGNC	protein_coding		G	NM_014238		25932695	+1	no_errors	ENST00000319524	ensembl	human	known	70_37	missense	SNP	1.000	A
KRTAP9-8	83901	genome.wustl.edu	37	17	39394399	39394399	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:39394399C>G	ENST00000254072.6	+	1	103	c.96C>G	c.(94-96)tgC>tgG	p.C32W		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	32	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCACACCCTGCTGCCAGCCCT	0.617																																																	0													72.0	85.0	81.0					17																	39394399		2098	4296	6394	SO:0001583	missense	83901			AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.96C>G	17.37:g.39394399C>G	ENSP00000254072:p.Cys32Trp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.C32W	ENST00000254072.6	37	c.96	CCDS42334.1	17	.	.	.	.	.	.	.	.	.	.	.	15.58	2.874255	0.51695	.	.	ENSG00000187272	ENST00000254072	T	0.02552	4.25	2.95	0.841	0.18918	.	.	.	.	.	T	0.12178	0.0296	M	0.90542	3.125	0.44579	D	0.997544	D	0.64830	0.994	P	0.58520	0.84	T	0.00986	-1.1490	9	0.87932	D	0	.	7.0157	0.24887	0.0:0.7449:0.0:0.2551	.	32	Q9BYQ0	KRA98_HUMAN	W	32	ENSP00000254072:C32W	ENSP00000254072:C32W	C	+	3	2	KRTAP9-8	36647925	1.000000	0.71417	0.006000	0.13384	0.965000	0.64279	1.519000	0.35888	0.077000	0.16863	0.462000	0.41574	TGC	KRTAP9-8	-	NULL		0.617	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-8	HGNC	protein_coding	OTTHUMT00000257712.1	C			39394399	+1	no_errors	ENST00000254072	ensembl	human	known	70_37	missense	SNP	0.772	G
LAMB2	3913	genome.wustl.edu	37	3	49160436	49160436	+	Missense_Mutation	SNP	C	C	G	rs141317511		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr3:49160436C>G	ENST00000418109.1	-	28	4438	c.4274G>C	c.(4273-4275)gGt>gCt	p.G1425A	USP19_ENST00000434032.2_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.G1425A|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000398892.3_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1425	Domain alpha.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACAGCCGGCACCCCCACAAGG	0.662																																																	0								C	ALA/GLY	1,4405	2.1+/-5.4	0,1,2202	25.0	27.0	26.0		4274	4.7	1.0	3	dbSNP_134	26	2,8598	1.2+/-3.3	0,2,4298	yes	missense	LAMB2	NM_002292.3	60	0,3,6500	GG,GC,CC		0.0233,0.0227,0.0231	probably-damaging	1425/1799	49160436	3,13003	2203	4300	6503	SO:0001583	missense	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4274G>C	3.37:g.49160436C>G	ENSP00000388325:p.Gly1425Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16321	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.G1425A	ENST00000418109.1	37	c.4274	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797977	0.70567	2.27E-4	2.33E-4	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.54479	0.57;0.57	5.6	4.71	0.59529	.	0.053986	0.64402	D	0.000001	T	0.74496	0.3724	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78355	-0.2236	10	0.54805	T	0.06	.	15.7421	0.77905	0.1375:0.8625:0.0:0.0	.	1425	P55268	LAMB2_HUMAN	A	1425;1425;192	ENSP00000388325:G1425A;ENSP00000307156:G1425A	ENSP00000307156:G1425A	G	-	2	0	LAMB2	49135440	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.376000	0.79658	1.305000	0.44909	0.655000	0.94253	GGT	LAMB2	-	NULL		0.662	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	C	NM_002292		49160436	-1	no_errors	ENST00000305544	ensembl	human	known	70_37	missense	SNP	1.000	G
LIG4	3981	genome.wustl.edu	37	13	108861152	108861152	+	Missense_Mutation	SNP	G	G	A	rs141441003	byFrequency	TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr13:108861152G>A	ENST00000356922.4	-	2	2737	c.2465C>T	c.(2464-2466)tCg>tTg	p.S822L	LIG4_ENST00000405925.1_Missense_Mutation_p.S822L|LIG4_ENST00000442234.1_Missense_Mutation_p.S822L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	822	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AACAGCATACGAGTCCAAATA	0.423								Non-homologous end-joining																																									0								G	LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	90.0	85.0	87.0		2465,2465,2465	4.4	1.0	13	dbSNP_134	87	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense	LIG4	NM_001098268.1,NM_002312.3,NM_206937.1	145,145,145	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign,benign	822/912,822/912,822/912	108861152	3,13003	2203	4300	6503	SO:0001583	missense	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2465C>T	13.37:g.108861152G>A	ENSP00000349393:p.Ser822Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IY66|Q8TEU5	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.S822L	ENST00000356922.4	37	c.2465	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	G	0.342	-0.949670	0.02304	0.0	3.49E-4	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.61510	0.1;0.1;0.1	5.59	4.41	0.53225	BRCT (3);	1.311970	0.05045	N	0.477027	T	0.33030	0.0849	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.38950	-0.9637	10	0.07990	T	0.79	.	2.9351	0.05811	0.5416:0.2532:0.076:0.1292	.	822	P49917	DNLI4_HUMAN	L	822	ENSP00000385955:S822L;ENSP00000402030:S822L;ENSP00000349393:S822L	ENSP00000349393:S822L	S	-	2	0	LIG4	107659153	0.001000	0.12720	0.974000	0.42286	0.369000	0.29798	0.806000	0.27126	0.970000	0.38263	-0.570000	0.04155	TCG	LIG4	-	superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.423	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	G	NM_002312		108861152	-1	no_errors	ENST00000356922	ensembl	human	known	70_37	missense	SNP	0.039	A
LMTK3	114783	genome.wustl.edu	37	19	49004787	49004787	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:49004787G>C	ENST00000600059.1	-	8	1054	c.827C>G	c.(826-828)tCt>tGt	p.S276C	LMTK3_ENST00000270238.3_Missense_Mutation_p.S305C			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGTCAGGTCAGAGGTCAGCAG	0.687																																																	0													40.0	48.0	45.0					19																	49004787		2189	4264	6453	SO:0001583	missense	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.827C>G	19.37:g.49004787G>C	ENSP00000472020:p.Ser276Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0U1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,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.S305C	ENST00000600059.1	37	c.914		19	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567719	0.86439	.	.	ENSG00000142235	ENST00000270238	D	0.83591	-1.74	3.44	3.44	0.39384	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000003	D	0.90170	0.6928	M	0.80183	2.485	0.48830	D	0.999711	D	0.89917	1.0	D	0.79784	0.993	D	0.91363	0.5113	10	0.72032	D	0.01	.	12.8489	0.57846	0.0:0.0:1.0:0.0	.	276	Q96Q04	LMTK3_HUMAN	C	305	ENSP00000270238:S305C	ENSP00000270238:S305C	S	-	2	0	LMTK3	53696599	1.000000	0.71417	0.962000	0.40283	0.881000	0.50899	6.799000	0.75160	1.950000	0.56595	0.444000	0.29173	TCT	LMTK3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.687	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	G	NM_052895		49004787	-1	no_errors	ENST00000270238	ensembl	human	known	70_37	missense	SNP	1.000	C
CADM3	57863	genome.wustl.edu	37	1	159170740	159170740	+	3'UTR	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:159170740C>T	ENST00000368125.4	+	0	1382				CADM3_ENST00000368124.4_3'UTR|CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_5'Flank|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CTGCGCCCCCCAGGGGCCCTG	0.672																																																	0													28.0	31.0	30.0					1																	159170740		2203	4300	6503	SO:0001624	3_prime_UTR_variant	100131825			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.*28C>T	1.37:g.159170740C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IZQ9|Q9NVJ5|Q9UJP1	RNA	SNP	-	NULL	ENST00000368125.4	37	NULL	CCDS44251.1	1																																																																																			CTA-134P22.2	-	-		0.672	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LOC100131825	Clone_based_vega_gene	protein_coding	OTTHUMT00000090330.1	C	NM_021189		159170740	-1	no_errors	ENST00000415675	ensembl	human	known	70_37	rna	SNP	0.796	T
LOC81691	81691	genome.wustl.edu	37	16	20857632	20857632	+	Silent	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:20857632C>G	ENST00000261377.6	+	19	2423	c.2214C>G	c.(2212-2214)ctC>ctG	p.L738L	AC004381.6_ENST00000348433.6_Silent_p.L707L|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Silent_p.L738L	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					CGGGCACTCTCTGCCTCATCC	0.532																																																	0													106.0	104.0	104.0					16																	20857632		2201	4300	6501	SO:0001819	synonymous_variant	81691																														ENST00000261377.6:c.2214C>G	16.37:g.20857632C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_RRM_dom,superfamily_RNaseH-like_dom,smart_Exonuclease,smart_RRM_dom,pfscan_RRM_dom	p.L738	ENST00000261377.6	37	c.2214	CCDS10591.1	16																																																																																			AC004381.6	-	NULL		0.532	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC81691	Clone_based_vega_gene	protein_coding	OTTHUMT00000254418.2	C			20857632	+1	no_errors	ENST00000261377	ensembl	human	known	70_37	silent	SNP	0.997	G
LPGAT1	9926	genome.wustl.edu	37	1	211952327	211952327	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:211952327C>T	ENST00000366997.4	-	6	1013	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	LPGAT1_ENST00000366996.1_Missense_Mutation_p.E263K	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	263					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		TCTATAGGTTCAGCTTTGGGA	0.338																																																	0													174.0	178.0	177.0					1																	211952327		2203	4300	6503	SO:0001583	missense	9926			D86960	CCDS31018.1	1q32.3	2008-05-14	2004-11-25	2004-11-26	ENSG00000123684	ENSG00000123684			28985	protein-coding gene	gene with protein product		610473	"""family with sequence similarity 34, member A"""	FAM34A		9039502, 15485873	Standard	NM_014873		Approved	KIAA0205, FAM34A1, NET8	uc001hiv.3	Q92604	OTTHUMG00000037120	ENST00000366997.4:c.787G>A	1.37:g.211952327C>T	ENSP00000355964:p.Glu263Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53YL2	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.E263K	ENST00000366997.4	37	c.787	CCDS31018.1	1	.	.	.	.	.	.	.	.	.	.	C	9.561	1.118537	0.20877	.	.	ENSG00000123684	ENST00000366997;ENST00000366996	T;T	0.29397	1.57;1.57	5.89	5.89	0.94794	.	0.209892	0.56097	D	0.000024	T	0.20292	0.0488	L	0.28115	0.83	0.43408	D	0.995548	B	0.22346	0.068	B	0.13407	0.009	T	0.04915	-1.0918	10	0.05959	T	0.93	-28.1621	15.763	0.78101	0.0:0.8644:0.1356:0.0	.	263	Q92604	LGAT1_HUMAN	K	263	ENSP00000355964:E263K;ENSP00000355963:E263K	ENSP00000355963:E263K	E	-	1	0	LPGAT1	210018950	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.562000	0.45914	2.808000	0.96608	0.549000	0.68633	GAA	LPGAT1	-	NULL		0.338	LPGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPGAT1	HGNC	protein_coding	OTTHUMT00000090150.1	C	NM_014873		211952327	-1	no_errors	ENST00000366996	ensembl	human	known	70_37	missense	SNP	1.000	T
LYPD5	284348	genome.wustl.edu	37	19	44302644	44302644	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:44302644C>G	ENST00000377950.3	-	4	560	c.480G>C	c.(478-480)caG>caC	p.Q160H	LYPD5_ENST00000414615.2_Missense_Mutation_p.Q117H|AC115522.3_ENST00000595680.1_lincRNA|LYPD5_ENST00000594013.1_Missense_Mutation_p.Q117H	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	160	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				AGCAGGCGGTCTGGTCCTGGT	0.647																																																	0													109.0	93.0	99.0					19																	44302644		2203	4300	6503	SO:0001583	missense	284348			AK055031	CCDS12631.1, CCDS46096.1	19q13.31	2008-02-05				ENSG00000159871			26397	protein-coding gene	gene with protein product						12477932	Standard	NM_182573		Approved	FLJ30469	uc002oxm.4	Q6UWN5		ENST00000377950.3:c.480G>C	19.37:g.44302644C>G	ENSP00000367185:p.Gln160His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PEX9|Q96DR2	Missense_Mutation	SNP	pfam_LY6_UPAR	p.Q160H	ENST00000377950.3	37	c.480	CCDS46096.1	19	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861708	0.51482	.	.	ENSG00000159871	ENST00000377950;ENST00000414615	T;T	0.70631	-0.5;-0.5	4.25	0.543	0.17179	CD59 antigen, conserved site (1);CD59 antigen (1);	0.000000	0.35970	N	0.002878	T	0.69387	0.3105	L	0.32530	0.975	0.29268	N	0.870846	D	0.69078	0.997	D	0.65323	0.934	T	0.64711	-0.6343	10	0.22109	T	0.4	-10.2711	10.2199	0.43190	0.0:0.8026:0.0:0.1974	.	160	Q6UWN5	LYPD5_HUMAN	H	160;117	ENSP00000367185:Q160H;ENSP00000408433:Q117H	ENSP00000367185:Q160H	Q	-	3	2	LYPD5	48994484	0.995000	0.38212	0.945000	0.38365	0.633000	0.38033	0.552000	0.23376	-0.017000	0.14103	0.561000	0.74099	CAG	LYPD5	-	pfam_LY6_UPAR		0.647	LYPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD5	HGNC	protein_coding	OTTHUMT00000463611.1	C	NM_182573		44302644	-1	no_errors	ENST00000377950	ensembl	human	known	70_37	missense	SNP	0.939	G
MAP7D2	256714	genome.wustl.edu	37	X	20033420	20033420	+	Missense_Mutation	SNP	C	C	A	rs202062315		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:20033420C>A	ENST00000379651.3	-	11	1565	c.1547G>T	c.(1546-1548)cGg>cTg	p.R516L	MAP7D2_ENST00000452324.3_Missense_Mutation_p.R464L|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R557L|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R401L|MIR23C_ENST00000579846.1_RNA|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R471L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	516					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						AGCTACCTCCCGGGCCTTTGT	0.463																																																	0													142.0	113.0	123.0					X																	20033420		2203	4300	6503	SO:0001583	missense	256714			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1547G>T	X.37:g.20033420C>A	ENSP00000368972:p.Arg516Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	pfam_E-MAP-115	p.R557L	ENST00000379651.3	37	c.1670	CCDS14195.1	X	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767862	0.49680	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.73	0.695	0.18070	.	0.271361	0.31145	N	0.008170	T	0.33876	0.0878	M	0.69823	2.125	0.33801	D	0.626667	P;P;P;P;P	0.44946	0.846;0.712;0.815;0.846;0.815	B;B;B;B;B	0.39904	0.313;0.209;0.209;0.313;0.209	T	0.50329	-0.8841	10	0.48119	T	0.1	-4.8215	9.8503	0.41053	0.0:0.7278:0.0:0.2722	.	471;464;557;516;401	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	L	516;557;401;471;199;464	ENSP00000368972:R516L;ENSP00000368964:R557L;ENSP00000440691:R401L;ENSP00000388239:R471L;ENSP00000413301:R464L	ENSP00000368964:R557L	R	-	2	0	MAP7D2	19943341	1.000000	0.71417	0.984000	0.44739	0.073000	0.16967	1.348000	0.33987	0.017000	0.15025	-0.924000	0.02725	CGG	MAP7D2	-	pfam_E-MAP-115		0.463	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP7D2	HGNC	protein_coding	OTTHUMT00000056001.1	C	NM_152780		20033420	-1	no_errors	ENST00000379643	ensembl	human	known	70_37	missense	SNP	1.000	A
MAGEC1	9947	genome.wustl.edu	37	X	140994898	140994898	+	Nonsense_Mutation	SNP	C	C	T	rs370254815		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:140994898C>T	ENST00000285879.4	+	4	1994	c.1708C>T	c.(1708-1710)Cag>Tag	p.Q570*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	570										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCCCTCCTCAGGGGGAGGA	0.597										HNSCC(15;0.026)																																							0													233.0	253.0	246.0					X																	140994898		2203	4300	6503	SO:0001587	stop_gained	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1708C>T	X.37:g.140994898C>T	ENSP00000285879:p.Gln570*	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PK03|O75451|Q8TCV4	Nonsense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.Q570*	ENST00000285879.4	37	c.1708	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	22.2	4.263975	0.80358	.	.	ENSG00000155495	ENST00000285879	.	.	.	0.92	-1.84	0.07809	.	.	.	.	.	.	.	.	.	.	.	0.23607	N	0.997309	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.1643	0.25681	0.0:0.515:0.485:0.0	.	.	.	.	X	570	.	ENSP00000285879:Q570X	Q	+	1	0	MAGEC1	140822564	0.017000	0.18338	0.003000	0.11579	0.003000	0.03518	0.130000	0.15850	-1.365000	0.02158	-1.355000	0.01225	CAG	MAGEC1	-	NULL		0.597	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	C	NM_005462		140994898	+1	no_errors	ENST00000285879	ensembl	human	known	70_37	nonsense	SNP	0.336	T
MCHR2	84539	genome.wustl.edu	37	6	100368918	100368918	+	Silent	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr6:100368918G>A	ENST00000281806.2	-	6	1235	c.921C>T	c.(919-921)atC>atT	p.I307I	MCHR2_ENST00000369212.2_Silent_p.I307I	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CACTCAGCAGGATGTAGAGAA	0.443																																																	0													142.0	142.0	142.0					6																	100368918		2203	4300	6503	SO:0001819	synonymous_variant	84539			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.921C>T	6.37:g.100368918G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt	p.I307	ENST00000281806.2	37	c.921	CCDS5044.1	6																																																																																			MCHR2	-	pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn		0.443	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	HGNC	protein_coding	OTTHUMT00000041620.2	G	NM_032503		100368918	-1	no_errors	ENST00000281806	ensembl	human	known	70_37	silent	SNP	0.998	A
MED23	9439	genome.wustl.edu	37	6	131908764	131908764	+	3'UTR	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr6:131908764G>A	ENST00000368068.3	-	0	4341				MED23_ENST00000545957.1_3'UTR|MED23_ENST00000368058.1_3'UTR|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000403834.3_3'UTR|MED23_ENST00000368060.3_Intron|MED23_ENST00000354577.4_Intron	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23						gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TAAAAGGTTTGAGTCCACTCT	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.*55C>T	6.37:g.131908764G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	RNA	SNP	-	NULL	ENST00000368068.3	37	NULL	CCDS5147.1	6																																																																																			MED23	-	-		0.378	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	G			131908764	-1	no_errors	ENST00000479213	ensembl	human	known	70_37	rna	SNP	0.000	A
KMT2E	55904	genome.wustl.edu	37	7	104753145	104753145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr7:104753145C>T	ENST00000311117.3	+	27	5487	c.4942C>T	c.(4942-4944)Cag>Tag	p.Q1648*	KMT2E_ENST00000334877.4_Nonsense_Mutation_p.Q1606*|KMT2E_ENST00000257745.4_Nonsense_Mutation_p.Q1648*|SRPK2_ENST00000493638.1_Intron	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1648	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GAATTCCCATCAGCAACACTC	0.572																																																	0													125.0	110.0	115.0					7																	104753145		2203	4300	6503	SO:0001587	stop_gained	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4942C>T	7.37:g.104753145C>T	ENSP00000312379:p.Gln1648*	Somatic		WXS	Illumina HiSeq	Phase_IV	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Nonsense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.Q1648*	ENST00000311117.3	37	c.4942	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	c	44	10.875819	0.99482	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	.	.	.	2.95	2.95	0.34219	.	0.475989	0.15764	N	0.245789	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	14.3313	0.66559	0.0:1.0:0.0:0.0	.	.	.	.	X	1648;1606;1568;1648	.	ENSP00000257745:Q1648X	Q	+	1	0	MLL5	104540381	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.526000	0.67116	1.620000	0.50308	0.298000	0.19748	CAG	MLL5	-	NULL		0.572	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	HGNC	protein_coding	OTTHUMT00000348697.1	C			104753145	+1	no_errors	ENST00000257745	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MORC3	23515	genome.wustl.edu	37	21	37741397	37741397	+	Silent	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr21:37741397C>T	ENST00000400485.1	+	15	1807	c.1731C>T	c.(1729-1731)gtC>gtT	p.V577V	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	577					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						ATGAAGATGTCATCATCTTAG	0.383																																																	0													159.0	148.0	152.0					21																	37741397		2023	4177	6200	SO:0001819	synonymous_variant	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1731C>T	21.37:g.37741397C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA92|Q9UEZ2	Silent	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.V577	ENST00000400485.1	37	c.1731	CCDS42924.1	21																																																																																			MORC3	-	NULL		0.383	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	C	NM_015358		37741397	+1	no_errors	ENST00000400485	ensembl	human	known	70_37	silent	SNP	0.998	T
MORC3	23515	genome.wustl.edu	37	21	37741838	37741838	+	Silent	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr21:37741838C>T	ENST00000400485.1	+	15	2248	c.2172C>T	c.(2170-2172)atC>atT	p.I724I	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	724					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CTGATCAAATCAAAGTGTTAC	0.358																																																	0													88.0	80.0	82.0					21																	37741838		1864	4103	5967	SO:0001819	synonymous_variant	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2172C>T	21.37:g.37741838C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA92|Q9UEZ2	Silent	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.I724	ENST00000400485.1	37	c.2172	CCDS42924.1	21																																																																																			MORC3	-	NULL		0.358	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	C	NM_015358		37741838	+1	no_errors	ENST00000400485	ensembl	human	known	70_37	silent	SNP	0.020	T
MUC17	140453	genome.wustl.edu	37	7	100675897	100675897	+	Silent	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr7:100675897C>T	ENST00000306151.4	+	3	1264	c.1200C>T	c.(1198-1200)gtC>gtT	p.V400V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	400	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATATGCCTGTCAGCACCATAT	0.463																																																	0													194.0	204.0	200.0					7																	100675897		2203	4300	6503	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1200C>T	7.37:g.100675897C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O14761|Q685J2|Q8TDH7	Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.V400	ENST00000306151.4	37	c.1200	CCDS34711.1	7																																																																																			MUC17	-	NULL		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	C	NM_001040105		100675897	+1	no_errors	ENST00000306151	ensembl	human	known	70_37	silent	SNP	0.001	T
MUM1	84939	genome.wustl.edu	37	19	1360225	1360225	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:1360225C>T	ENST00000415183.3	+	4	334	c.308C>T	c.(307-309)tCg>tTg	p.S103L	MUM1_ENST00000311401.5_Missense_Mutation_p.S34L|MUM1_ENST00000591806.1_Missense_Mutation_p.S103L|MUM1_ENST00000344663.3_Missense_Mutation_p.S103L			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	102					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		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;0.000172)|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)		AGCGAGGGCTCGATTTGGAGT	0.597											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													97.0	94.0	95.0					19																	1360225		2203	4300	6503	SO:0001583	missense	84939			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.308C>T	19.37:g.1360225C>T	ENSP00000394925:p.Ser103Leu	Somatic	595	WXS	Illumina HiSeq	Phase_IV	A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	pfam_PWWP	p.S103L	ENST00000415183.3	37	c.308		19	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743834	0.30865	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183;ENST00000542512	T;T;T	0.34072	1.38;1.38;1.38	4.58	1.14	0.20703	.	2.327930	0.01483	N	0.016740	T	0.20577	0.0495	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.21793	-1.0235	10	0.59425	D	0.04	.	3.1057	0.06341	0.1807:0.5467:0.175:0.0976	.	103;103;34;102	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	L	103;34;103;32	ENSP00000345789:S103L;ENSP00000309135:S34L;ENSP00000394925:S103L	ENSP00000309135:S34L	S	+	2	0	MUM1	1311225	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.156000	0.10100	0.149000	0.19098	-0.137000	0.14449	TCG	MUM1	-	NULL		0.597	MUM1-016	NOVEL	basic|exp_conf	protein_coding	MUM1	HGNC	protein_coding	OTTHUMT00000449510.1	C	NM_032853		1360225	+1	no_errors	ENST00000344663	ensembl	human	known	70_37	missense	SNP	0.000	T
MUM1	84939	genome.wustl.edu	37	19	1360624	1360624	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:1360624C>T	ENST00000415183.3	+	4	733	c.707C>T	c.(706-708)tCa>tTa	p.S236L	MUM1_ENST00000311401.5_Missense_Mutation_p.S167L|MUM1_ENST00000591806.1_Missense_Mutation_p.S236L|MUM1_ENST00000344663.3_Missense_Mutation_p.S236L			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	235					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		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;0.000172)|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)		TCTTCCCTTTCAGAGGACGAC	0.577																																																	0													67.0	66.0	66.0					19																	1360624		2203	4300	6503	SO:0001583	missense	84939			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.707C>T	19.37:g.1360624C>T	ENSP00000394925:p.Ser236Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	pfam_PWWP	p.S236L	ENST00000415183.3	37	c.707		19	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470564	0.26423	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183;ENST00000542512	T;T;T	0.27890	1.67;1.64;1.65	4.49	2.31	0.28768	.	2.862850	0.00984	N	0.003438	T	0.27169	0.0666	L	0.34521	1.04	0.09310	N	1	P;P;P;P	0.39551	0.51;0.678;0.642;0.51	B;B;B;B	0.38458	0.142;0.235;0.274;0.142	T	0.21999	-1.0229	10	0.62326	D	0.03	.	5.8286	0.18568	0.0:0.6966:0.1979:0.1055	.	236;236;167;235	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	L	236;167;236;165	ENSP00000345789:S236L;ENSP00000309135:S167L;ENSP00000394925:S236L	ENSP00000309135:S167L	S	+	2	0	MUM1	1311624	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.483000	0.22292	0.595000	0.29777	0.650000	0.86243	TCA	MUM1	-	NULL		0.577	MUM1-016	NOVEL	basic|exp_conf	protein_coding	MUM1	HGNC	protein_coding	OTTHUMT00000449510.1	C	NM_032853		1360624	+1	no_errors	ENST00000344663	ensembl	human	known	70_37	missense	SNP	0.001	T
MXRA5	25878	genome.wustl.edu	37	X	3238287	3238287	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:3238287C>G	ENST00000217939.6	-	5	5593	c.5439G>C	c.(5437-5439)caG>caC	p.Q1813H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1813						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGATAGAACTCTGGGTGGAAG	0.507																																																	0													79.0	78.0	78.0					X																	3238287		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5439G>C	X.37:g.3238287C>G	ENSP00000217939:p.Gln1813His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q1813H	ENST00000217939.6	37	c.5439	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	C	1.597	-0.527521	0.04141	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64991	-0.13	3.53	0.239	0.15484	.	0.508110	0.14493	U	0.316214	T	0.32823	0.0842	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.11717	-1.0576	10	0.38643	T	0.18	.	1.5578	0.02588	0.1611:0.3439:0.3104:0.1846	.	1813	Q9NR99	MXRA5_HUMAN	H	1813	ENSP00000217939:Q1813H	ENSP00000217939:Q1813H	Q	-	3	2	MXRA5	3248287	0.001000	0.12720	0.036000	0.18154	0.027000	0.11550	-0.307000	0.08167	-0.028000	0.13850	0.464000	0.42555	CAG	MXRA5	-	NULL		0.507	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	C	NM_015419		3238287	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	missense	SNP	0.010	G
MYEOV	26579	genome.wustl.edu	37	11	69062904	69062904	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr11:69062904C>T	ENST00000308946.3	+	2	533	c.83C>T	c.(82-84)tCt>tTt	p.S28F	MYEOV_ENST00000441339.2_Missense_Mutation_p.S28F|MYEOV_ENST00000535407.1_5'UTR	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	28										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		ctggaacagtctccctcctgg	0.592																																																	0													241.0	170.0	194.0					11																	69062904		2200	4294	6494	SO:0001583	missense	26579			AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.83C>T	11.37:g.69062904C>T	ENSP00000308330:p.Ser28Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UGN6|Q9UGN7	Missense_Mutation	SNP	NULL	p.S28F	ENST00000308946.3	37	c.83	CCDS8190.1	11	.	.	.	.	.	.	.	.	.	.	C	9.559	1.117946	0.20877	.	.	ENSG00000172927	ENST00000441339;ENST00000308946	T;T	0.24350	1.86;1.86	1.5	-0.503	0.12000	.	.	.	.	.	T	0.10294	0.0252	N	0.08118	0	0.19300	N	0.999973	B	0.31383	0.321	B	0.23852	0.049	T	0.21109	-1.0255	9	0.87932	D	0	.	4.0896	0.09963	0.0:0.5736:0.0:0.4264	.	28	Q96EZ4	MYEOV_HUMAN	F	28	ENSP00000412482:S28F;ENSP00000308330:S28F	ENSP00000308330:S28F	S	+	2	0	MYEOV	68819480	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.478000	0.06575	-0.149000	0.11215	0.491000	0.48974	TCT	MYEOV	-	NULL		0.592	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MYEOV	HGNC	protein_coding	OTTHUMT00000396548.1	C			69062904	+1	no_errors	ENST00000308946	ensembl	human	known	70_37	missense	SNP	0.000	T
MYH10	4628	genome.wustl.edu	37	17	8395749	8395749	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:8395749C>G	ENST00000269243.4	-	32	4582	c.4444G>C	c.(4444-4446)Gaa>Caa	p.E1482Q	MYH10_ENST00000360416.3_Missense_Mutation_p.E1513Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1503Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1498Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1482					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GCTTTGGTTTCTTTCTCTCTG	0.602																																																	0													68.0	76.0	73.0					17																	8395749		2203	4300	6503	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4444G>C	17.37:g.8395749C>G	ENSP00000269243:p.Glu1482Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1503Q	ENST00000269243.4	37	c.4507	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790848	0.90367	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;T;T	0.86297	-2.1;-2.1;-1.29;-1.29	5.5	4.53	0.55603	Myosin tail (1);	0.099399	0.64402	D	0.000002	D	0.93536	0.7937	M	0.85197	2.74	0.58432	D	0.999999	D;P;D	0.59357	0.985;0.915;0.985	D;P;D	0.69824	0.966;0.905;0.966	D	0.94474	0.7687	10	0.72032	D	0.01	.	14.6396	0.68714	0.0:0.9305:0.0:0.0695	.	1491;1513;1482	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	1482;1513;1503;1498	ENSP00000269243:E1482Q;ENSP00000353590:E1513Q;ENSP00000379539:E1503Q;ENSP00000369315:E1498Q	ENSP00000269243:E1482Q	E	-	1	0	MYH10	8336474	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	7.609000	0.82925	1.558000	0.49541	0.655000	0.94253	GAA	MYH10	-	pfam_Myosin_tail		0.602	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	C			8395749	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	missense	SNP	1.000	G
MYLK3	91807	genome.wustl.edu	37	16	46746648	46746648	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:46746648G>A	ENST00000394809.4	-	10	2141	c.2026C>T	c.(2026-2028)Cct>Tct	p.P676S	MYLK3_ENST00000562104.1_5'Flank|MYLK3_ENST00000536476.1_Missense_Mutation_p.P335S	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	676	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGGAACTCAGGAGTGCCGAAG	0.542																																																	0													91.0	76.0	81.0					16																	46746648		2203	4300	6503	SO:0001583	missense	91807			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.2026C>T	16.37:g.46746648G>A	ENSP00000378288:p.Pro676Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B5BUL9|B7Z5U8|Q32MK1|Q96DV1	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.P676S	ENST00000394809.4	37	c.2026	CCDS10723.2	16	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372472	0.82573	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.47869	0.83;0.83	5.85	4.89	0.63831	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	0.35436	N	0.003211	T	0.72827	0.3509	M	0.85710	2.77	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.79107	-0.1939	10	0.87932	D	0	.	17.0555	0.86532	0.0:0.127:0.873:0.0	.	676	Q32MK0	MYLK3_HUMAN	S	676;335	ENSP00000378288:P676S;ENSP00000439297:P335S	ENSP00000378288:P676S	P	-	1	0	MYLK3	45304149	1.000000	0.71417	0.669000	0.29828	0.970000	0.65996	7.935000	0.87658	1.459000	0.47892	0.655000	0.94253	CCT	MYLK3	-	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		0.542	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK3	HGNC	protein_coding	OTTHUMT00000255743.2	G	NM_182493		46746648	-1	no_errors	ENST00000394809	ensembl	human	known	70_37	missense	SNP	0.996	A
MYOF	26509	genome.wustl.edu	37	10	95113616	95113616	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr10:95113616C>T	ENST00000359263.4	-	32	3432	c.3433G>A	c.(3433-3435)Gtc>Atc	p.V1145I	MYOF_ENST00000358334.5_Missense_Mutation_p.V1132I|MYOF_ENST00000371502.4_Missense_Mutation_p.V1145I|MYOF_ENST00000371501.4_Missense_Mutation_p.V1145I	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1145	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCTTGATAGACATAGCAGCGC	0.348																																																	0													134.0	128.0	130.0					10																	95113616		1855	4106	5961	SO:0001583	missense	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3433G>A	10.37:g.95113616C>T	ENSP00000352208:p.Val1145Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.V1145I	ENST00000359263.4	37	c.3433	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	C	3.016	-0.202761	0.06219	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.95	3.66	0.41972	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.296983	0.37577	N	0.002022	T	0.49406	0.1555	N	0.21373	0.66	0.33806	D	0.627316	B;B	0.02656	0.0;0.0	B;B	0.15052	0.002;0.012	T	0.48592	-0.9022	10	0.02654	T	1	-11.8237	9.4418	0.38673	0.0:0.21:0.0:0.79	.	1132;1145	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	I	1132;1145;1145;1145	ENSP00000351094:V1132I;ENSP00000352208:V1145I;ENSP00000360556:V1145I;ENSP00000360557:V1145I	ENSP00000351094:V1132I	V	-	1	0	MYOF	95103606	0.015000	0.18098	0.732000	0.30844	0.887000	0.51463	0.158000	0.16422	0.523000	0.28482	-0.471000	0.05019	GTC	MYOF	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.348	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	C	NM_013451		95113616	-1	no_errors	ENST00000359263	ensembl	human	known	70_37	missense	SNP	0.869	T
MYSM1	114803	genome.wustl.edu	37	1	59147737	59147737	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:59147737C>G	ENST00000472487.1	-	8	1018	c.979G>C	c.(979-981)Gat>Cat	p.D327H	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	327					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CCCCTTCCATCATGCTTGTTG	0.338																																																	0													120.0	110.0	113.0					1																	59147737		1833	4094	5927	SO:0001583	missense	114803			AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.979G>C	1.37:g.59147737C>G	ENSP00000418734:p.Asp327His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	pfam_SWIRM,pfam_JAB1_Mov34_MPN_PAD1,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB1_Mov34_MPN_PAD1,pfscan_SWIRM,pfscan_Myb-like_dom	p.D327H	ENST00000472487.1	37	c.979	CCDS41343.1	1	.	.	.	.	.	.	.	.	.	.	C	1.247	-0.619619	0.03663	.	.	ENSG00000162601	ENST00000472487	T	0.22945	1.93	4.64	-2.32	0.06745	.	1.544640	0.02962	N	0.143286	T	0.15132	0.0365	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13953	-1.0490	10	0.37606	T	0.19	3.6115	1.6909	0.02852	0.1412:0.4331:0.1166:0.3091	.	327	Q5VVJ2	MYSM1_HUMAN	H	327	ENSP00000418734:D327H	ENSP00000418734:D327H	D	-	1	0	MYSM1	58920325	0.000000	0.05858	0.000000	0.03702	0.149000	0.21700	0.382000	0.20635	-0.692000	0.05128	0.585000	0.79938	GAT	MYSM1	-	NULL		0.338	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYSM1	HGNC	protein_coding	OTTHUMT00000026343.2	C	XM_055481		59147737	-1	no_errors	ENST00000472487	ensembl	human	known	70_37	missense	SNP	0.000	G
NALCN	259232	genome.wustl.edu	37	13	102029363	102029363	+	Silent	SNP	G	G	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr13:102029363G>T	ENST00000251127.6	-	5	501	c.420C>A	c.(418-420)ggC>ggA	p.G140G	NALCN_ENST00000376196.3_Silent_p.G140G|NALCN_ENST00000376200.5_Silent_p.G140G|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	140					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCGCAACATGCCCCAAGGTG	0.393																																																	0													75.0	73.0	74.0					13																	102029363		2203	4300	6503	SO:0001819	synonymous_variant	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.420C>A	13.37:g.102029363G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.G140	ENST00000251127.6	37	c.420	CCDS9498.1	13																																																																																			NALCN	-	pfam_Ion_trans_dom		0.393	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	G	NM_052867		102029363	-1	no_errors	ENST00000251127	ensembl	human	known	70_37	silent	SNP	0.999	T
NAV1	89796	genome.wustl.edu	37	1	201757712	201757712	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:201757712G>A	ENST00000367296.4	+	10	3532	c.3112G>A	c.(3112-3114)Gag>Aag	p.E1038K	NAV1_ENST00000367302.1_Intron|NAV1_ENST00000367297.4_Missense_Mutation_p.E1038K|NAV1_ENST00000295624.6_Missense_Mutation_p.E1038K|NAV1_ENST00000367295.1_Missense_Mutation_p.E647K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Intron	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1038					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GTCCCTGGCCGAGAGACCCAA	0.617																																																	0													123.0	106.0	112.0					1																	201757712		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3112G>A	1.37:g.201757712G>A	ENSP00000356265:p.Glu1038Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.E1038K	ENST00000367296.4	37	c.3112	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.582064|5.582064	0.96578|0.96578	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000367296;ENST00000295624;ENST00000367297;ENST00000391966;ENST00000367295|ENST00000430015	T;T;T;T|.	0.14391|.	2.65;2.66;2.51;2.65|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.110960|.	0.64402|.	D|.	0.000011|.	T|T	0.75867|0.75867	0.3908|0.3908	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	D;P;D;D;P|.	0.67145|.	0.986;0.921;0.996;0.975;0.954|.	P;B;P;B;B|.	0.62184|.	0.555;0.242;0.899;0.304;0.311|.	T|T	0.74917|0.74917	-0.3501|-0.3501	10|5	0.87932|.	D|.	0|.	-27.7916|-27.7916	18.7921|18.7921	0.91978|0.91978	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1038;647;1038;546;1038|.	Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3|.	.;.;NAV1_HUMAN;.;.|.	K|Q	1038;1038;1038;546;647|595	ENSP00000356265:E1038K;ENSP00000295624:E1038K;ENSP00000356266:E1038K;ENSP00000356264:E647K|.	ENSP00000295624:E1038K|.	E|R	+|+	1|2	0|0	NAV1|NAV1	200024335|200024335	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.777000|9.777000	0.99008|0.99008	2.526000|2.526000	0.85167|0.85167	0.561000|0.561000	0.74099|0.74099	GAG|CGA	NAV1	-	NULL		0.617	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	G	NM_020443		201757712	+1	no_errors	ENST00000367296	ensembl	human	known	70_37	missense	SNP	1.000	A
NCOA3	8202	genome.wustl.edu	37	20	46265142	46265142	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr20:46265142C>G	ENST00000371998.3	+	12	2203	c.2012C>G	c.(2011-2013)tCc>tGc	p.S671C	NCOA3_ENST00000371997.3_Missense_Mutation_p.S681C|NCOA3_ENST00000372004.3_Missense_Mutation_p.S671C|NCOA3_ENST00000341724.6_Missense_Mutation_p.S681C			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	671	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCCTCTACATCCAATATGCAT	0.473																																																	0													80.0	78.0	78.0					20																	46265142		2203	4300	6503	SO:0001583	missense	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.2012C>G	20.37:g.46265142C>G	ENSP00000361066:p.Ser671Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom	p.S671C	ENST00000371998.3	37	c.2012	CCDS13407.1	20	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007671	0.54361	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.6	5.6	0.85130	Steroid receptor coactivator (1);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	L	0.57536	1.79	0.58432	D	0.999998	B;D;B;B;P;B	0.76494	0.236;0.999;0.417;0.417;0.562;0.417	B;D;B;B;B;B	0.68353	0.261;0.957;0.444;0.444;0.316;0.444	T	0.65220	-0.6221	10	0.37606	T	0.19	-15.4548	19.9698	0.97280	0.0:1.0:0.0:0.0	.	671;681;675;671;671;671	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	C	671;681;671;671;681	ENSP00000342123:S681C;ENSP00000361073:S671C;ENSP00000361066:S671C;ENSP00000361065:S681C	ENSP00000345671:S671C	S	+	2	0	NCOA3	45698549	1.000000	0.71417	0.990000	0.47175	0.853000	0.48598	3.998000	0.57024	2.786000	0.95864	0.561000	0.74099	TCC	NCOA3	-	pfam_SRC-1,pirsf_Nuclear_rcpt_coactivator		0.473	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1	C	NM_006534		46265142	+1	no_errors	ENST00000371998	ensembl	human	known	70_37	missense	SNP	1.000	G
NDC80	10403	genome.wustl.edu	37	18	2577797	2577797	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr18:2577797G>C	ENST00000261597.4	+	4	414	c.232G>C	c.(232-234)Gag>Cag	p.E78Q		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	78	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTCCAGTTCTGAGAAAATCAA	0.368																																																	0													82.0	82.0	82.0					18																	2577797		2203	4300	6503	SO:0001583	missense	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.232G>C	18.37:g.2577797G>C	ENSP00000261597:p.Glu78Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PJX2	Missense_Mutation	SNP	pfam_Kinetochore_Ndc80,superfamily_t-SNARE	p.E78Q	ENST00000261597.4	37	c.232	CCDS11827.1	18	.	.	.	.	.	.	.	.	.	.	G	19.26	3.794291	0.70452	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.43294	0.95	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	L	0.41710	1.295	0.80722	D	1	D	0.57899	0.981	D	0.63033	0.91	T	0.32771	-0.9894	10	0.13853	T	0.58	-18.3372	19.69	0.95996	0.0:0.0:1.0:0.0	.	78	O14777	NDC80_HUMAN	Q	78	ENSP00000261597:E78Q	ENSP00000261597:E78Q	E	+	1	0	NDC80	2567797	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.676000	0.91199	2.648000	0.89879	0.650000	0.86243	GAG	NDC80	-	pfam_Kinetochore_Ndc80		0.368	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDC80	HGNC	protein_coding	OTTHUMT00000254327.1	G	NM_006101		2577797	+1	no_errors	ENST00000261597	ensembl	human	known	70_37	missense	SNP	1.000	C
NDC80	10403	genome.wustl.edu	37	18	2579017	2579017	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr18:2579017G>C	ENST00000261597.4	+	6	750	c.568G>C	c.(568-570)Gac>Cac	p.D190H		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	190	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTGGCTAATAGACTGCATCAA	0.388																																																	0													95.0	83.0	87.0					18																	2579017		2203	4300	6503	SO:0001583	missense	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.568G>C	18.37:g.2579017G>C	ENSP00000261597:p.Asp190His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PJX2	Missense_Mutation	SNP	pfam_Kinetochore_Ndc80,superfamily_t-SNARE	p.D190H	ENST00000261597.4	37	c.568	CCDS11827.1	18	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622559	0.87460	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.46819	0.86	5.31	5.31	0.75309	.	0.044427	0.85682	D	0.000000	T	0.66056	0.2751	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.66760	-0.5842	10	0.59425	D	0.04	-16.3711	17.5208	0.87787	0.0:0.0:1.0:0.0	.	190	O14777	NDC80_HUMAN	H	190	ENSP00000261597:D190H	ENSP00000261597:D190H	D	+	1	0	NDC80	2569017	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.222000	0.89777	2.648000	0.89879	0.555000	0.69702	GAC	NDC80	-	pfam_Kinetochore_Ndc80		0.388	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDC80	HGNC	protein_coding	OTTHUMT00000254327.1	G	NM_006101		2579017	+1	no_errors	ENST00000261597	ensembl	human	known	70_37	missense	SNP	1.000	C
Unknown	0	genome.wustl.edu	37	14	19488869	19488869	+	IGR	SNP	G	G	C	rs3000010	byFrequency	TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr14:19488869G>C								RP11-536C10.16 (74971 upstream) : MED15P1 (10976 downstream)																							CTTGCTGATGGGTCTTCTTCA	0.378													g|||	1718	0.343051	0.4887	0.3285	5008	,	,		41329	0.2192		0.3509	False		,,,				2504	0.2761																0																																										SO:0001628	intergenic_variant	100419029																															14.37:g.19488869G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		14																																																																																			NF1P4	-	-	0	0.378					NF1P4	HGNC			G			19488869	-1	no_errors	ENST00000548793	ensembl	human	known	70_37	rna	SNP	1.000	C
NKD1	85407	genome.wustl.edu	37	16	50667159	50667159	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:50667159C>T	ENST00000268459.3	+	10	1104	c.880C>T	c.(880-882)Cga>Tga	p.R294*		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	294					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R294*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAATCCCACTCGATCTCGCTC	0.587																																																	1	Substitution - Nonsense(1)	large_intestine(1)											103.0	101.0	102.0					16																	50667159		2198	4300	6498	SO:0001587	stop_gained	85407			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.880C>T	16.37:g.50667159C>T	ENSP00000268459:p.Arg294*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC39|Q8WZ08	Nonsense_Mutation	SNP	pfscan_EF_HAND_2	p.R294*	ENST00000268459.3	37	c.880	CCDS10743.1	16	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976278	0.74360	.	.	ENSG00000140807	ENST00000268459	.	.	.	4.54	1.13	0.20643	.	0.109667	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.986	8.5192	0.33264	0.362:0.5178:0.1202:0.0	.	.	.	.	X	294	.	ENSP00000268459:R294X	R	+	1	2	NKD1	49224660	0.937000	0.31787	0.077000	0.20336	0.528000	0.34623	1.610000	0.36869	0.507000	0.28148	-0.302000	0.09304	CGA	NKD1	-	NULL		0.587	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKD1	HGNC	protein_coding	OTTHUMT00000256873.1	C			50667159	+1	no_errors	ENST00000268459	ensembl	human	known	70_37	nonsense	SNP	0.543	T
NLGN3	54413	genome.wustl.edu	37	X	70367612	70367613	+	Frame_Shift_Ins	INS	-	-	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:70367612_70367613insT	ENST00000358741.3	+	2	316_317	c.13_14insT	c.(13-15)cttfs	p.L5fs	NLGN3_ENST00000374051.3_Frame_Shift_Ins_p.L5fs|NLGN3_ENST00000536169.1_Frame_Shift_Ins_p.L5fs	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	5					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GTGGCTGCGGCTTGGCCCGCCC	0.653																																					Esophageal Squamous(103;760 1488 16849 22250 40351)												0																																										SO:0001589	frameshift_variant	54413			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.15dupT	X.37:g.70367614_70367614dupT	ENSP00000351591:p.Leu5fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Frame_Shift_Ins	INS	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.G6fs	ENST00000358741.3	37	c.13_14	CCDS55441.1	X																																																																																			NLGN3	-	NULL		0.653	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	-	NM_018977		70367613	+1	no_errors	ENST00000358741	ensembl	human	known	70_37	frame_shift_ins	INS	0.999:0.999	T
NOMO2	283820	genome.wustl.edu	37	16	18542930	18542930	+	Splice_Site	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:18542930C>T	ENST00000381474.3	-	13	1461		c.e13-1		NOMO2_ENST00000330537.6_Splice_Site|NOMO2_ENST00000543392.1_Splice_Site	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2							endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						GAACCATCACCTGCGGAAACG	0.542																																																	0													92.0	69.0	77.0					16																	18542930		2193	4277	6470	SO:0001630	splice_region_variant	283820			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.1396-1G>A	16.37:g.18542930C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G177	Splice_Site	SNP	-	e13-1	ENST00000381474.3	37	c.1396-1	CCDS32394.1	16	.	.	.	.	.	.	.	.	.	.	c	10.77	1.443332	0.25987	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	.	.	.	3.13	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7009	0.62608	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOMO2	18450431	1.000000	0.71417	0.958000	0.39756	0.208000	0.24298	6.815000	0.75242	1.724000	0.51502	0.455000	0.32223	.	NOMO2	-	-		0.542	NOMO2-002	KNOWN	basic|CCDS	protein_coding	NOMO2	HGNC	protein_coding	OTTHUMT00000435858.1	C	NM_001004060	Intron	18542930	-1	no_errors	ENST00000381474	ensembl	human	known	70_37	splice_site	SNP	1.000	T
NR1H4	9971	genome.wustl.edu	37	12	100904813	100904813	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr12:100904813C>T	ENST00000551379.1	+	2	395	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	NR1H4_ENST00000392986.3_Missense_Mutation_p.R113C|NR1H4_ENST00000548884.1_Missense_Mutation_p.R113C|NR1H4_ENST00000188403.7_Missense_Mutation_p.R123C|NR1H4_ENST00000549996.1_Missense_Mutation_p.R113C			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	123					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	AAAGAAGCCCCGCATGGGCGC	0.527																																																	0													87.0	93.0	91.0					12																	100904813		2203	4300	6503	SO:0001583	missense	9971			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.367C>T	12.37:g.100904813C>T	ENSP00000447149:p.Arg123Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.R123C	ENST00000551379.1	37	c.367	CCDS55876.1	12	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416918	0.62511	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.94417	-3.12;-3.17;-3.42;-3.18;-3.12	5.9	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.83603	2.65	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	0.91635	0.999;0.997;0.999;0.997;0.978	D	0.97261	0.9904	10	0.54805	T	0.06	.	14.1059	0.65088	0.3855:0.6145:0.0:0.0	.	113;123;123;113;113	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	C	113;113;113;123;123	ENSP00000448506:R113C;ENSP00000376712:R113C;ENSP00000448978:R113C;ENSP00000447149:R123C;ENSP00000188403:R123C	ENSP00000188403:R123C	R	+	1	0	NR1H4	99428944	0.971000	0.33674	0.934000	0.37439	0.779000	0.44077	1.041000	0.30291	1.455000	0.47813	0.650000	0.86243	CGC	NR1H4	-	NULL		0.527	NR1H4-006	KNOWN	basic|CCDS	protein_coding	NR1H4	HGNC	protein_coding	OTTHUMT00000409140.1	C	NM_005123		100904813	+1	no_errors	ENST00000551379	ensembl	human	known	70_37	missense	SNP	1.000	T
NOS1	4842	genome.wustl.edu	37	12	117658014	117658014	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr12:117658014C>A	ENST00000338101.4	-	27	4142	c.4138G>T	c.(4138-4140)Gag>Tag	p.E1380*	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Nonsense_Mutation_p.E1346*			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCCCCTTGCTCCTTCAGGGCT	0.607																																					Esophageal Squamous(162;1748 2599 51982 52956)												0													129.0	140.0	136.0					12																	117658014		2202	4299	6501	SO:0001587	stop_gained	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4138G>T	12.37:g.117658014C>A	ENSP00000337459:p.Glu1380*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.E1346*	ENST00000338101.4	37	c.4036	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	C	48	14.459174	0.99796	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	.	.	.	4.29	3.4	0.38934	.	0.166092	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-32.5012	12.1056	0.53810	0.0:0.9163:0.0:0.0837	.	.	.	.	X	1241;1346;1380	.	ENSP00000320758:E1346X	E	-	1	0	NOS1	116142397	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.539000	0.60657	1.037000	0.40024	0.561000	0.74099	GAG	NOS1	-	pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_met		0.607	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	C			117658014	-1	no_errors	ENST00000317775	ensembl	human	known	70_37	nonsense	SNP	1.000	A
OARD1	221443	genome.wustl.edu	37	6	41036673	41036673	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr6:41036673G>A	ENST00000479950.1	-	5	576	c.263C>T	c.(262-264)tCg>tTg	p.S88L	OARD1_ENST00000244558.9_Intron|OARD1_ENST00000486443.1_Missense_Mutation_p.S49L|OARD1_ENST00000424266.2_Missense_Mutation_p.S88L|OARD1_ENST00000373154.2_Intron|OARD1_ENST00000480585.1_Intron|OARD1_ENST00000463088.1_Missense_Mutation_p.S88L|OARD1_ENST00000468811.1_Missense_Mutation_p.S88L|OARD1_ENST00000467234.1_5'Flank|OARD1_ENST00000482515.1_Intron|OARD1_ENST00000464633.1_Intron			Q9Y530	OARD1_HUMAN	O-acyl-ADP-ribose deacylase 1	88	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				purine nucleoside metabolic process (GO:0042278)		deacetylase activity (GO:0019213)|purine nucleoside binding (GO:0001883)										TGGCTTGTGCGAAGCCCTTTT	0.413																																																	0													86.0	86.0	86.0					6																	41036673		2203	4300	6503	SO:0001583	missense	221443			AJ420538	CCDS34445.1	6p21.1	2013-03-14	2012-11-06	2012-11-06	ENSG00000124596	ENSG00000124596			21257	protein-coding gene	gene with protein product	"""terminal ADP-ribose protein glycohydrolase 1"""	614393	"""chromosome 6 open reading frame 130"""	C6orf130		21849506	Standard	NM_145063		Approved	MGC19570, dJ34B21.3, TARG1	uc003opm.3	Q9Y530	OTTHUMG00000014667	ENST00000479950.1:c.263C>T	6.37:g.41036673G>A	ENSP00000420484:p.Ser88Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEK4|A8K4H4|Q96F23	Missense_Mutation	SNP	pfam_A1pp,smart_A1pp,pfscan_A1pp	p.S88L	ENST00000479950.1	37	c.263	CCDS34445.1	6	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655501	0.29425	.	.	ENSG00000124596	ENST00000479950;ENST00000463088;ENST00000424266;ENST00000468811;ENST00000486443;ENST00000488238	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	6.08	6.08	0.98989	Appr-1-p processing (2);	0.315884	0.34986	N	0.003524	T	0.26048	0.0635	L	0.57536	1.79	0.80722	D	1	P	0.41546	0.754	B	0.37989	0.262	T	0.07195	-1.0785	10	0.11182	T	0.66	-17.8447	17.8194	0.88645	0.0:0.0:1.0:0.0	.	88	Q9Y530	CF130_HUMAN	L	88;88;88;88;49;88	ENSP00000420484:S88L;ENSP00000420193:S88L;ENSP00000416829:S88L;ENSP00000420601:S88L;ENSP00000419175:S49L;ENSP00000420414:S88L	ENSP00000416829:S88L	S	-	2	0	C6orf130	41144651	0.998000	0.40836	0.994000	0.49952	0.996000	0.88848	2.902000	0.48703	2.894000	0.99253	0.655000	0.94253	TCG	OARD1	-	pfam_A1pp,smart_A1pp,pfscan_A1pp		0.413	OARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OARD1	HGNC	protein_coding	OTTHUMT00000040494.2	G	NM_145063		41036673	-1	no_errors	ENST00000424266	ensembl	human	known	70_37	missense	SNP	0.974	A
OGN	4969	genome.wustl.edu	37	9	95155461	95155461	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr9:95155461C>T	ENST00000262551.4	-	4	754	c.334G>A	c.(334-336)Gat>Aat	p.D112N	CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.D112N|OGN_ENST00000468743.1_5'Flank	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	112					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						GGTACAGCATCAATGTCAACT	0.368																																																	0													139.0	122.0	128.0					9																	95155461		2203	4300	6503	SO:0001583	missense	4969			AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8126	protein-coding gene	gene with protein product	"""mimecan proteoglycan"""	602383	"""osteoglycin (osteoinductive factor)"""			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.334G>A	9.37:g.95155461C>T	ENSP00000262551:p.Asp112Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FIB0|Q9UF90|Q9UNK5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D112N	ENST00000262551.4	37	c.334	CCDS6695.1	9	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608118	0.46527	.	.	ENSG00000106809	ENST00000262551;ENST00000375561;ENST00000447356	D;D;D	0.83419	-1.72;-1.72;-1.72	5.08	5.08	0.68730	Leucine-rich repeat-containing N-terminal (1);	0.547135	0.21100	N	0.080165	T	0.79759	0.4501	L	0.54323	1.7	0.33953	D	0.644733	B;B	0.32302	0.242;0.363	B;B	0.24701	0.055;0.055	T	0.82942	-0.0207	10	0.34782	T	0.22	.	18.8517	0.92235	0.0:1.0:0.0:0.0	.	170;112	B4DI63;P20774	.;MIME_HUMAN	N	112;112;170	ENSP00000262551:D112N;ENSP00000364711:D112N;ENSP00000396709:D170N	ENSP00000262551:D112N	D	-	1	0	OGN	94195282	0.864000	0.29904	0.993000	0.49108	0.507000	0.33981	2.165000	0.42396	2.547000	0.85894	0.650000	0.86243	GAT	OGN	-	NULL		0.368	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OGN	HGNC	protein_coding	OTTHUMT00000053087.1	C	NM_024416		95155461	-1	no_errors	ENST00000262551	ensembl	human	known	70_37	missense	SNP	0.993	T
OSGIN2	734	genome.wustl.edu	37	8	90937101	90937101	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr8:90937101G>C	ENST00000297438.2	+	6	1214	c.859G>C	c.(859-861)Gaa>Caa	p.E287Q	OSGIN2_ENST00000451899.2_Missense_Mutation_p.E331Q	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	287					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTCAATGCCTGAATTTGGAGC	0.468																																																	0													121.0	115.0	117.0					8																	90937101		2203	4299	6502	SO:0001583	missense	734			AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.859G>C	8.37:g.90937101G>C	ENSP00000297438:p.Glu287Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E331Q	ENST00000297438.2	37	c.991	CCDS6248.1	8	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685594	0.68157	.	.	ENSG00000164823	ENST00000297438;ENST00000451899	T;T	0.74315	-0.83;-0.83	5.48	5.48	0.80851	.	0.130725	0.64402	D	0.000001	T	0.77519	0.4142	L	0.29908	0.895	0.80722	D	1	D;D	0.67145	0.996;0.989	P;P	0.58660	0.843;0.832	T	0.76688	-0.2867	10	0.39692	T	0.17	-23.563	19.3615	0.94440	0.0:0.0:1.0:0.0	.	331;287	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	Q	287;331	ENSP00000297438:E287Q;ENSP00000396445:E331Q	ENSP00000297438:E287Q	E	+	1	0	OSGIN2	91006276	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.004000	0.88535	2.587000	0.87381	0.650000	0.86243	GAA	OSGIN2	-	NULL		0.468	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	OSGIN2	HGNC	protein_coding	OTTHUMT00000375691.1	G	NM_004337		90937101	+1	no_errors	ENST00000451899	ensembl	human	known	70_37	missense	SNP	1.000	C
PARP9	83666	genome.wustl.edu	37	3	122259323	122259323	+	Silent	SNP	C	C	T	rs376768463		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr3:122259323C>T	ENST00000360356.2	-	8	2093	c.1866G>A	c.(1864-1866)tcG>tcA	p.S622S	PARP9_ENST00000492382.1_Silent_p.S167S|PARP9_ENST00000477522.2_Silent_p.S587S|PARP9_ENST00000471785.1_Silent_p.S587S|PARP9_ENST00000462315.1_Silent_p.S587S	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	622					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		ACTCACCTAACGAGCGCCAAA	0.433																																																	0								C	,,,,,	0,4406		0,0,2203	56.0	54.0	55.0		1866,1761,1761,1761,1761,1866	-5.8	0.0	3		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PARP9	NM_001146102.1,NM_001146103.1,NM_001146104.1,NM_001146105.1,NM_001146106.1,NM_031458.2	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	622/855,587/820,587/820,587/820,587/711,622/855	122259323	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83666			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1866G>A	3.37:g.122259323C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S622	ENST00000360356.2	37	c.1866	CCDS3014.1	3																																																																																			PARP9	-	NULL		0.433	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARP9	HGNC	protein_coding	OTTHUMT00000355957.1	C	NM_031458		122259323	-1	no_errors	ENST00000360356	ensembl	human	known	70_37	silent	SNP	0.000	T
PARP14	54625	genome.wustl.edu	37	3	122399840	122399840	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr3:122399840C>T	ENST00000474629.2	+	1	376	c.110C>T	c.(109-111)tCg>tTg	p.S37L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	37					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CCGAAGAGGTCGGGAGGCGGC	0.672																																																	0													30.0	34.0	33.0					3																	122399840		1869	4090	5959	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.110C>T	3.37:g.122399840C>T	ENSP00000418194:p.Ser37Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S37L	ENST00000474629.2	37	c.110	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002438	0.54254	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.25085	1.82	4.23	4.23	0.50019	.	.	.	.	.	T	0.49677	0.1571	M	0.81497	2.545	0.34163	D	0.668873	D	0.89917	1.0	D	0.66602	0.945	T	0.66056	-0.6018	9	0.72032	D	0.01	.	11.9743	0.53083	0.0:1.0:0.0:0.0	.	37	Q460N5	PAR14_HUMAN	L	37	ENSP00000418194:S37L	ENSP00000381228:S37L	S	+	2	0	PARP14	123882530	0.982000	0.34865	0.097000	0.21041	0.138000	0.21146	4.493000	0.60341	2.183000	0.69458	0.655000	0.94253	TCG	PARP14	-	NULL		0.672	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	C	NM_017554		122399840	+1	no_errors	ENST00000474629	ensembl	human	known	70_37	missense	SNP	0.529	T
PCBP3	54039	genome.wustl.edu	37	21	47337528	47337528	+	Silent	SNP	C	C	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr21:47337528C>A	ENST00000400314.1	+	11	1040	c.702C>A	c.(700-702)gcC>gcA	p.A234A	PCBP3_ENST00000449640.1_Silent_p.A234A|PCBP3_ENST00000400308.1_Silent_p.A209A|PCBP3_ENST00000400309.1_Silent_p.A234A|PCBP3_ENST00000400304.1_Silent_p.A225A|PCBP3_ENST00000400310.1_Silent_p.A234A			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	234					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		GACAGTATGCCATCCCTCACC	0.542																																																	0													254.0	274.0	268.0					21																	47337528		2084	4210	6294	SO:0001819	synonymous_variant	54039			AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.702C>A	21.37:g.47337528C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.A234	ENST00000400314.1	37	c.702	CCDS42974.2	21																																																																																			PCBP3	-	NULL		0.542	PCBP3-001	KNOWN	basic|CCDS	protein_coding	PCBP3	HGNC	protein_coding	OTTHUMT00000206808.2	C			47337528	+1	no_errors	ENST00000400314	ensembl	human	known	70_37	silent	SNP	1.000	A
PCDHA10	56139	genome.wustl.edu	37	5	140236854	140236854	+	Silent	SNP	G	G	A	rs375802816		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:140236854G>A	ENST00000307360.5	+	1	1221	c.1221G>A	c.(1219-1221)gtG>gtA	p.V407V	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.V407V|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	407	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCATTGGTGCTGGACAGCG	0.627																																																	0													144.0	130.0	134.0					5																	140236854		2197	4275	6472	SO:0001819	synonymous_variant	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1221G>A	5.37:g.140236854G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L493|O75280|Q9NRU2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V407	ENST00000307360.5	37	c.1221	CCDS54921.1	5																																																																																			PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.627	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	G	NM_018901		140236854	+1	no_errors	ENST00000307360	ensembl	human	known	70_37	silent	SNP	0.902	A
PCDHB2	56133	genome.wustl.edu	37	5	140475758	140475758	+	Missense_Mutation	SNP	G	G	A	rs368304890		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:140475758G>A	ENST00000194155.4	+	1	1532	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	462	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCCTGTTCGTCCGCGAGAA	0.637																																																	0													85.0	85.0	85.0					5																	140475758		2203	4296	6499	SO:0001583	missense	56133			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1384G>A	5.37:g.140475758G>A	ENSP00000194155:p.Val462Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4KMU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V462I	ENST00000194155.4	37	c.1384	CCDS4244.1	5	.	.	.	.	.	.	.	.	.	.	G	6.470	0.454811	0.12283	.	.	ENSG00000112852	ENST00000194155	T	0.53857	0.6	5.11	1.79	0.24919	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.27798	0.0684	N	0.20445	0.575	0.09310	N	1	P	0.49090	0.919	B	0.37480	0.251	T	0.08027	-1.0742	9	0.25106	T	0.35	.	3.0966	0.06312	0.1593:0.2428:0.4739:0.124	.	462	Q9Y5E7	PCDB2_HUMAN	I	462	ENSP00000194155:V462I	ENSP00000194155:V462I	V	+	1	0	PCDHB2	140455942	0.015000	0.18098	0.334000	0.25495	0.286000	0.27126	0.141000	0.16076	0.519000	0.28406	0.650000	0.86243	GTC	PCDHB2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.637	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	HGNC	protein_coding	OTTHUMT00000251801.2	G	NM_018936		140475758	+1	no_errors	ENST00000194155	ensembl	human	known	70_37	missense	SNP	0.022	A
PCDHB14	56122	genome.wustl.edu	37	5	140605248	140605248	+	Missense_Mutation	SNP	G	G	A	rs142658705		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:140605248G>A	ENST00000239449.4	+	1	2171	c.2171G>A	c.(2170-2172)cGc>cAc	p.R724H	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R571H	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	724					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R724H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGGGTCGCTGCTCGGTG	0.662																																					Ovarian(141;50 1831 27899 33809 37648)												1	Substitution - Missense(1)	lung(1)						G	HIS/ARG	0,4406		0,0,2203	65.0	80.0	75.0		2171	1.1	0.0	5	dbSNP_134	75	1,8593		0,1,4296	no	missense	PCDHB14	NM_018934.2	29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	724/799	140605248	1,12999	2203	4297	6500	SO:0001583	missense	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2171G>A	5.37:g.140605248G>A	ENSP00000239449:p.Arg724His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R724H	ENST00000239449.4	37	c.2171	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	18.67	3.674687	0.67928	0.0	1.16E-4	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.53206	0.63;0.64	4.36	1.1	0.20463	.	.	.	.	.	T	0.56804	0.2010	M	0.81112	2.525	0.09310	N	1	D	0.65815	0.995	P	0.51701	0.677	T	0.48948	-0.8989	9	0.52906	T	0.07	.	8.6311	0.33919	0.0:0.3138:0.5244:0.1617	.	724	Q9Y5E9	PCDBE_HUMAN	H	571;724	ENSP00000444518:R571H;ENSP00000239449:R724H	ENSP00000239449:R724H	R	+	2	0	PCDHB14	140585432	0.085000	0.21516	0.001000	0.08648	0.850000	0.48378	0.046000	0.14035	0.336000	0.23639	0.650000	0.86243	CGC	PCDHB14	-	NULL		0.662	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	G	NM_018934		140605248	+1	no_errors	ENST00000239449	ensembl	human	known	70_37	missense	SNP	0.001	A
PDE4A	5141	genome.wustl.edu	37	19	10572231	10572231	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:10572231G>A	ENST00000352831.6	+	12	1605	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	PDE4A_ENST00000592685.1_Missense_Mutation_p.E477K|PDE4A_ENST00000380702.2_Missense_Mutation_p.E477K|PDE4A_ENST00000344979.3_Missense_Mutation_p.E260K|PDE4A_ENST00000293683.5_Missense_Mutation_p.E473K|PDE4A_ENST00000440014.2_Missense_Mutation_p.E438K	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	499	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	GTACAACGATGAGTCGGTGCT	0.647																																																	0													75.0	67.0	70.0					19																	10572231		2203	4300	6503	SO:0001583	missense	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1495G>A	19.37:g.10572231G>A	ENSP00000270474:p.Glu499Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.E499K	ENST00000352831.6	37	c.1495	CCDS45961.1	19	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117092	0.77323	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	3.92	3.92	0.45320	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.055797	0.64402	D	0.000001	D	0.83644	0.5299	L	0.35487	1.065	0.80722	D	1	B;D;D;D;P	0.89917	0.175;1.0;0.999;0.968;0.941	B;D;D;P;P	0.85130	0.029;0.997;0.992;0.686;0.522	D	0.85522	0.1204	10	0.72032	D	0.01	.	13.4357	0.61082	0.0:0.0:1.0:0.0	.	165;260;438;473;499	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	K	477;499;473;438;260;165	ENSP00000370078:E477K;ENSP00000270474:E499K;ENSP00000293683:E473K;ENSP00000394754:E438K;ENSP00000341007:E260K	ENSP00000293683:E473K	E	+	1	0	PDE4A	10433231	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	6.369000	0.73109	2.032000	0.59987	0.585000	0.79938	GAG	PDE4A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.647	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4A	HGNC	protein_coding	OTTHUMT00000451244.1	G			10572231	+1	no_errors	ENST00000352831	ensembl	human	known	70_37	missense	SNP	1.000	A
PDLIM5	10611	genome.wustl.edu	37	4	95444929	95444929	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr4:95444929C>G	ENST00000317968.4	+	3	287	c.151C>G	c.(151-153)Ctc>Gtc	p.L51V	PDLIM5_ENST00000514743.1_Missense_Mutation_p.L51V|PDLIM5_ENST00000437932.1_Missense_Mutation_p.L51V|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000380180.3_Missense_Mutation_p.L51V|PDLIM5_ENST00000450793.1_Missense_Mutation_p.L51V|PDLIM5_ENST00000318007.5_Missense_Mutation_p.L51V|PDLIM5_ENST00000538141.1_Missense_Mutation_p.L51V|PDLIM5_ENST00000508216.1_Missense_Mutation_p.L51V	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	51	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CGATGTGGTTCTCAGCATTGA	0.393																																																	0													125.0	116.0	119.0					4																	95444929		2203	4300	6503	SO:0001583	missense	10611			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.151C>G	4.37:g.95444929C>G	ENSP00000321746:p.Leu51Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.L51V	ENST00000317968.4	37	c.151	CCDS3641.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.386|9.386	1.074169|1.074169	0.20227|0.20227	.|.	.|.	ENSG00000163110|ENSG00000163110	ENST00000513341|ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000503974;ENST00000508216;ENST00000514743	.|T;T;T;T;T;T;T;T;T	.|0.34275	.|1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.96|5.96	3.17|3.17	0.36434|0.36434	.|PDZ/DHR/GLGF (4);	.|0.073324	.|0.56097	.|D	.|0.000028	T|T	0.40645|0.40645	0.1125|0.1125	L|L	0.35793|0.35793	1.09|1.09	0.80722|0.80722	D|D	1|1	.|P;B;B;P;B;B	.|0.47604	.|0.898;0.014;0.019;0.569;0.002;0.039	.|P;B;B;B;B;B	.|0.59357	.|0.856;0.017;0.078;0.279;0.007;0.413	T|T	0.10474|0.10474	-1.0628|-1.0628	5|10	.|0.10111	.|T	.|0.7	.|.	12.1149|12.1149	0.53860|0.53860	0.1264:0.6302:0.2435:0.0|0.1264:0.6302:0.2435:0.0	.|.	.|51;51;51;51;51;51	.|E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3	.|.;.;PDLI5_HUMAN;.;.;.	L|V	18|51	.|ENSP00000398469:L51V;ENSP00000369527:L51V;ENSP00000322021:L51V;ENSP00000401579:L51V;ENSP00000439795:L51V;ENSP00000321746:L51V;ENSP00000424297:L51V;ENSP00000426804:L51V;ENSP00000424360:L51V	.|ENSP00000321746:L51V	F|L	+|+	3|1	2|0	PDLIM5|PDLIM5	95663952|95663952	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	2.743000|2.743000	0.47442|0.47442	0.858000|0.858000	0.35431|0.35431	0.650000|0.650000	0.86243|0.86243	TTC|CTC	PDLIM5	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.393	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM5	HGNC	protein_coding	OTTHUMT00000253586.1	C			95444929	+1	no_errors	ENST00000317968	ensembl	human	known	70_37	missense	SNP	1.000	G
PFDN6	10471	genome.wustl.edu	37	6	33258518	33258518	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr6:33258518G>A	ENST00000395131.1	+	5	692	c.286G>A	c.(286-288)Gat>Aat	p.D96N	PFDN6_ENST00000374606.5_Missense_Mutation_p.D96N|WDR46_ENST00000374617.4_5'Flank|PFDN6_ENST00000374610.2_Missense_Mutation_p.D96N|PFDN6_ENST00000463584.1_Intron|WDR46_ENST00000477718.1_5'Flank|RGL2_ENST00000437840.2_5'Flank|PFDN6_ENST00000374607.1_Missense_Mutation_p.D96N			O15212	PFD6_HUMAN	prefoldin subunit 6	96					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(1)	2						CCAGCTTCGGGATCTTGAGCG	0.557																																																	0													46.0	43.0	44.0					6																	33258518		2202	4297	6499	SO:0001583	missense	10471			BC039033	CCDS4773.1	6p21.3	2006-02-24	2006-02-24	2006-02-24	ENSG00000204220	ENSG00000204220			4926	protein-coding gene	gene with protein product		605660	"""HLA class II region expressed gene KE2"", ""prefoldin 6"""	HKE2		9545376, 9630229	Standard	NM_001185181		Approved	KE-2, H2-KE2, PFD6	uc031sny.1	O15212	OTTHUMG00000031247	ENST00000395131.1:c.286G>A	6.37:g.33258518G>A	ENSP00000378563:p.Asp96Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_PFD_beta-like,superfamily_Prefoldin	p.D96N	ENST00000395131.1	37	c.286	CCDS4773.1	6	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296524	0.81025	.	.	ENSG00000204220	ENST00000395131;ENST00000374606;ENST00000374610;ENST00000374607	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.48	5.48	0.80851	Prefoldin beta-like (1);Prefoldin (1);	0.052946	0.64402	D	0.000001	T	0.40040	0.1101	L	0.57130	1.785	0.58432	D	0.999997	P	0.40107	0.703	P	0.47941	0.562	T	0.13818	-1.0495	10	0.42905	T	0.14	.	14.7297	0.69372	0.0:0.0:1.0:0.0	.	96	O15212	PFD6_HUMAN	N	96	ENSP00000378563:D96N;ENSP00000363734:D96N;ENSP00000363738:D96N;ENSP00000363735:D96N	ENSP00000363734:D96N	D	+	1	0	PFDN6	33366496	1.000000	0.71417	0.999000	0.59377	0.431000	0.31685	7.734000	0.84928	2.852000	0.98041	0.643000	0.83706	GAT	PFDN6	-	pfam_PFD_beta-like,superfamily_Prefoldin		0.557	PFDN6-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PFDN6	HGNC	protein_coding	OTTHUMT00000276361.1	G	NM_014260		33258518	+1	no_errors	ENST00000374606	ensembl	human	known	70_37	missense	SNP	1.000	A
PHF8	23133	genome.wustl.edu	37	X	54022200	54022200	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:54022200C>T	ENST00000357988.5	-	12	1715	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	PHF8_ENST00000338946.6_Missense_Mutation_p.E417K|PHF8_ENST00000338154.6_Missense_Mutation_p.E417K|PHF8_ENST00000322659.8_Missense_Mutation_p.E417K	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	453					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|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)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						ATCTCATCCTCATGGTCTGGC	0.493																																																	0													84.0	61.0	69.0					X																	54022200		2203	4300	6503	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1357G>A	X.37:g.54022200C>T	ENSP00000350676:p.Glu453Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.E453K	ENST00000357988.5	37	c.1357	CCDS55420.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.00|14.00	2.405965|2.405965	0.42715|0.42715	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659|ENST00000396282;ENST00000448003	T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51193|0.51193	0.1660|0.1660	N|N	0.16266|0.16266	0.395|0.395	0.50313|0.50313	D|D	0.999862|0.999862	P;P;P;B|.	0.52316|.	0.897;0.919;0.952;0.107|.	B;B;P;B|.	0.44359|.	0.365;0.261;0.447;0.021|.	T|T	0.47560|0.47560	-0.9108|-0.9108	10|5	0.16896|.	T|.	0.51|.	-15.2321|-15.2321	17.2714|17.2714	0.87103|0.87103	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	417;417;453;453|.	Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1|.	.;.;.;PHF8_HUMAN|.	K|I	453;417;417;447;417|320;97	ENSP00000350676:E453K;ENSP00000338868:E417K;ENSP00000340051:E417K;ENSP00000319473:E417K|.	ENSP00000319473:E417K|.	E|M	-|-	1|3	0|0	PHF8|PHF8	54038925|54038925	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.972000|0.972000	0.66771|0.66771	5.358000|5.358000	0.66064|0.66064	2.346000|2.346000	0.79739|0.79739	0.544000|0.544000	0.68410|0.68410	GAG|ATG	PHF8	-	NULL		0.493	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	C	NM_015107		54022200	-1	no_errors	ENST00000357988	ensembl	human	known	70_37	missense	SNP	1.000	T
PHKG2	5261	genome.wustl.edu	37	16	30764777	30764777	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:30764777G>A	ENST00000563588.1	+	6	694	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	PHKG2_ENST00000328273.7_Missense_Mutation_p.R152Q|RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000424889.3_Missense_Mutation_p.R152Q	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	152	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			ATTGTGCATCGAGATCTGAAG	0.542																																																	0													72.0	70.0	70.0					16																	30764777		2197	4300	6497	SO:0001583	missense	5261			S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.455G>A	16.37:g.30764777G>A	ENSP00000455607:p.Arg152Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0C7|B4DEB7|E9PEU3|P11800	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,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R152Q	ENST00000563588.1	37	c.455	CCDS10690.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.794607	0.96952	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T;T	0.60920	0.15;0.15	5.62	5.62	0.85841	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	0.38381	N	0.001704	D	0.84206	0.5421	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	D	0.89008	0.3426	10	0.87932	D	0	-3.6489	18.4328	0.90632	0.0:0.0:1.0:0.0	.	152;152	P15735;P15735-2	PHKG2_HUMAN;.	Q	152	ENSP00000329968:R152Q;ENSP00000388571:R152Q	ENSP00000329968:R152Q	R	+	2	0	PHKG2	30672278	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.633000	0.89246	0.655000	0.94253	CGA	PHKG2	-	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,prints_Ser-Thr/Tyr_kinase_cat_dom		0.542	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHKG2	HGNC	protein_coding	OTTHUMT00000255531.2	G	NM_000294		30764777	+1	no_errors	ENST00000563588	ensembl	human	known	70_37	missense	SNP	1.000	A
PITPNM2	57605	genome.wustl.edu	37	12	123494554	123494554	+	Silent	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr12:123494554G>A	ENST00000542749.1	-	4	549	c.486C>T	c.(484-486)ttC>ttT	p.F162F	PITPNM2_ENST00000320201.4_Silent_p.F162F|PITPNM2_ENST00000546049.1_Silent_p.F162F|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_Silent_p.F162F|MIR4304_ENST00000580964.1_RNA|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	162					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGGTTGACTGGAACAGCTTGG	0.542																																																	0													128.0	133.0	131.0					12																	123494554		2203	4300	6503	SO:0001819	synonymous_variant	57605			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.486C>T	12.37:g.123494554G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9P271	Silent	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.F162	ENST00000542749.1	37	c.486	CCDS9242.1	12																																																																																			PITPNM2	-	pfam_PI_transfer		0.542	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PITPNM2	HGNC	protein_coding	OTTHUMT00000401342.1	G	NM_020845		123494554	-1	no_errors	ENST00000320201	ensembl	human	known	70_37	silent	SNP	1.000	A
PKD1	5310	genome.wustl.edu	37	16	2158464	2158464	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:2158464G>A	ENST00000262304.4	-	15	6912	c.6704C>T	c.(6703-6705)tCa>tTa	p.S2235L	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Missense_Mutation_p.S2235L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2235	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTCCCCAAATGACACGACAAA	0.672																																																	0													43.0	41.0	42.0					16																	2158464		2190	4291	6481	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6704C>T	16.37:g.2158464G>A	ENSP00000262304:p.Ser2235Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.S2235L	ENST00000262304.4	37	c.6704	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	g	28.2	4.896833	0.91962	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.72615	-0.67;-0.67	5.35	5.35	0.76521	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);Polycystin cation channel (1);	0.067299	0.64402	D	0.000008	D	0.84524	0.5491	M	0.76328	2.33	0.46609	D	0.999121	D;D	0.76494	0.995;0.999	D;D	0.77557	0.94;0.99	D	0.86112	0.1563	10	0.87932	D	0	.	19.1617	0.93535	0.0:0.0:1.0:0.0	.	2235;2235	P98161-3;P98161	.;PKD1_HUMAN	L	2235;2235;1586;514	ENSP00000262304:S2235L;ENSP00000399501:S2235L	ENSP00000262304:S2235L	S	-	2	0	PKD1	2098465	1.000000	0.71417	0.989000	0.46669	0.889000	0.51656	9.373000	0.97168	2.539000	0.85634	0.544000	0.68410	TCA	PKD1	-	pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat		0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2158464	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	1.000	A
PKP3	11187	genome.wustl.edu	37	11	399985	399985	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr11:399985C>T	ENST00000331563.2	+	6	1368	c.1292C>T	c.(1291-1293)tCa>tTa	p.S431L		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	431					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGAACCTTTCATCCAGCGAC	0.667																																																	0													25.0	24.0	24.0					11																	399985		2168	4277	6445	SO:0001583	missense	11187			Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.1292C>T	11.37:g.399985C>T	ENSP00000331678:p.Ser431Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	F8J390|Q53EX8	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S431L	ENST00000331563.2	37	c.1292	CCDS7695.1	11	.	.	.	.	.	.	.	.	.	.	c	18.90	3.721233	0.68959	.	.	ENSG00000184363	ENST00000331563	T	0.51817	0.69	4.19	4.19	0.49359	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	T	0.74450	0.3718	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82188	-0.0581	10	0.87932	D	0	-14.9343	16.9419	0.86220	0.0:1.0:0.0:0.0	.	431	Q9Y446	PKP3_HUMAN	L	431	ENSP00000331678:S431L	ENSP00000331678:S431L	S	+	2	0	PKP3	389985	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	7.520000	0.81821	2.061000	0.61500	0.543000	0.68304	TCA	PKP3	-	superfamily_ARM-type_fold,smart_Armadillo		0.667	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP3	HGNC	protein_coding	OTTHUMT00000239281.1	C	NM_007183		399985	+1	no_errors	ENST00000331563	ensembl	human	known	70_37	missense	SNP	1.000	T
PLXDC2	84898	genome.wustl.edu	37	10	20466004	20466004	+	Silent	SNP	G	G	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr10:20466004G>T	ENST00000377252.4	+	8	1801	c.960G>T	c.(958-960)gtG>gtT	p.V320V	PLXDC2_ENST00000377242.3_Silent_p.V271V|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	320					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TTTCGGCTGTGGAGATGACCC	0.328																																																	0													93.0	94.0	93.0					10																	20466004		2203	4300	6503	SO:0001819	synonymous_variant	84898			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.960G>T	10.37:g.20466004G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96E59|Q96PD9|Q96SU9	Silent	SNP	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like	p.V320	ENST00000377252.4	37	c.960	CCDS7132.1	10																																																																																			PLXDC2	-	NULL		0.328	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC2	HGNC	protein_coding	OTTHUMT00000047101.2	G	NM_032812		20466004	+1	no_errors	ENST00000377252	ensembl	human	known	70_37	silent	SNP	1.000	T
PRKCSH	5589	genome.wustl.edu	37	19	11557090	11557090	+	Silent	SNP	C	C	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:11557090C>A	ENST00000589838.1	+	8	687	c.687C>A	c.(685-687)gtC>gtA	p.V229V	PRKCSH_ENST00000592741.1_Silent_p.V229V|PRKCSH_ENST00000252455.2_Silent_p.V229V|PRKCSH_ENST00000587327.1_Silent_p.V229V|PRKCSH_ENST00000591462.1_Silent_p.V229V|PRKCSH_ENST00000412601.1_Silent_p.V229V			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	229	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CCCGCAGGGTCTCGGTGACTG	0.667																																																	0													54.0	50.0	51.0					19																	11557090		2203	4300	6503	SO:0001819	synonymous_variant	5589				CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.687C>A	19.37:g.11557090C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_HAND_2	p.V229	ENST00000589838.1	37	c.687	CCDS32911.1	19																																																																																			PRKCSH	-	pfscan_EF_HAND_2		0.667	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKCSH	HGNC	protein_coding	OTTHUMT00000458817.1	C			11557090	+1	no_errors	ENST00000252455	ensembl	human	known	70_37	silent	SNP	0.833	A
PROKR2	128674	genome.wustl.edu	37	20	5294782	5294782	+	Silent	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr20:5294782G>A	ENST00000217270.3	-	1	233	c.234C>T	c.(232-234)ctC>ctT	p.L78L	PROKR2_ENST00000546004.1_Silent_p.L78L	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	78					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TATAGCGGGTGAGGGCAGCGA	0.557										HNSCC(71;0.22)																																							0													179.0	142.0	155.0					20																	5294782		2203	4300	6503	SO:0001819	synonymous_variant	128674			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.234C>T	20.37:g.5294782G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.L78	ENST00000217270.3	37	c.234	CCDS13089.1	20																																																																																			PROKR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.557	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR2	HGNC	protein_coding	OTTHUMT00000077854.1	G	NM_144773		5294782	-1	no_errors	ENST00000217270	ensembl	human	known	70_37	silent	SNP	0.193	A
PTPN3	5774	genome.wustl.edu	37	9	112200443	112200443	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr9:112200443G>C	ENST00000374541.2	-	8	642	c.538C>G	c.(538-540)Caa>Gaa	p.Q180E	PTPN3_ENST00000412145.1_Missense_Mutation_p.Q49E|PTPN3_ENST00000262539.3_Missense_Mutation_p.Q71E|PTPN3_ENST00000446349.1_Missense_Mutation_p.Q49E	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	180	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCCTCATTTTGATCGGGTATA	0.438																																																	0													85.0	88.0	87.0					9																	112200443		2203	4300	6503	SO:0001583	missense	5774				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.538C>G	9.37:g.112200443G>C	ENSP00000363667:p.Gln180Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin	p.Q180E	ENST00000374541.2	37	c.538	CCDS6776.1	9	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044372	0.75732	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	6.03	6.03	0.97812	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.88822	0.6541	M	0.77616	2.38	0.80722	D	1	D;D;D	0.76494	0.998;0.996;0.999	D;D;D	0.81914	0.995;0.975;0.983	D	0.89006	0.3425	10	0.87932	D	0	.	19.3283	0.94273	0.0:0.0:1.0:0.0	.	71;180;180	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	E	180;49;49;180;71	ENSP00000416654:Q49E;ENSP00000395384:Q49E;ENSP00000363667:Q180E;ENSP00000262539:Q71E	ENSP00000262539:Q71E	Q	-	1	0	PTPN3	111240264	1.000000	0.71417	0.996000	0.52242	0.370000	0.29829	7.717000	0.84732	2.861000	0.98227	0.655000	0.94253	CAA	PTPN3	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain		0.438	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN3	HGNC	protein_coding	OTTHUMT00000053598.4	G			112200443	-1	no_errors	ENST00000374541	ensembl	human	known	70_37	missense	SNP	1.000	C
PXDN	7837	genome.wustl.edu	37	2	1680739	1680739	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr2:1680739C>T	ENST00000252804.4	-	8	858	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	270	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGGTTGCCTTCGGCTCTGCAG	0.572																																																	0													65.0	74.0	71.0					2																	1680739		2020	4182	6202	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.808G>A	2.37:g.1680739C>T	ENSP00000252804:p.Glu270Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.E270K	ENST00000252804.4	37	c.808	CCDS46221.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.136608|4.136608	0.77662|0.77662	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000447941	T|.	0.67698|.	-0.28|.	4.77|4.77	4.77|4.77	0.60923|0.60923	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.125530|.	0.52532|.	D|.	0.000072|.	T|T	0.51261|0.51261	0.1664|0.1664	N|N	0.16743|0.16743	0.435|0.435	0.58432|0.58432	D|D	0.999994|0.999994	P;D|.	0.60160|.	0.943;0.987|.	P;P|.	0.59487|.	0.572;0.858|.	T|T	0.48375|0.48375	-0.9041|-0.9041	10|5	0.38643|.	T|.	0.18|.	-27.004|-27.004	17.8285|17.8285	0.88673|0.88673	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	270;270|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	K|Q	270|193	ENSP00000252804:E270K|.	ENSP00000252804:E270K|.	E|R	-|-	1|2	0|0	PXDN|PXDN	1659746|1659746	1.000000|1.000000	0.71417|0.71417	0.560000|0.560000	0.28344|0.28344	0.731000|0.731000	0.41821|0.41821	7.716000|7.716000	0.84723|0.84723	2.207000|2.207000	0.71202|0.71202	0.449000|0.449000	0.29647|0.29647	GAA|CGA	PXDN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.572	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	C	XM_056455		1680739	-1	no_errors	ENST00000252804	ensembl	human	known	70_37	missense	SNP	1.000	T
RAB14	51552	genome.wustl.edu	37	9	123952910	123952910	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr9:123952910C>G	ENST00000373840.4	-	4	443	c.206G>C	c.(205-207)gGa>gCa	p.G69A		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	69					embryo development (GO:0009790)|endocytic recycling (GO:0032456)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi to endosome transport (GO:0006895)|GTP catabolic process (GO:0006184)|intracellular transport (GO:0046907)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TCGCTCCTGTCCTGCCGTATC	0.423																																																	0													111.0	110.0	110.0					9																	123952910		2203	4300	6503	SO:0001583	missense	51552			AF152463	CCDS6827.1	9q32-q34.11	2008-07-21			ENSG00000119396	ENSG00000119396		"""RAB, member RAS oncogene"""	16524	protein-coding gene	gene with protein product	"""F protein-binding protein 1"", ""bA165P4.3 (member RAS oncogene family)"", ""small GTP binding protein RAB14"""	612673				9792283, 15004230	Standard	NM_016322		Approved	FBP, RAB-14	uc004blc.3	P61106	OTTHUMG00000020582	ENST00000373840.4:c.206G>C	9.37:g.123952910C>G	ENSP00000362946:p.Gly69Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KR31|P35287|Q5JVD4|Q6Q7K5|Q969L0|Q9UI11	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G69A	ENST00000373840.4	37	c.206	CCDS6827.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.111883	0.94339	.	.	ENSG00000119396	ENST00000373840;ENST00000451303	D;D	0.93488	-3.23;-3.23	5.37	5.37	0.77165	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98009	0.9344	H	0.96833	3.89	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.99376	1.0921	10	0.87932	D	0	.	18.1072	0.89524	0.0:1.0:0.0:0.0	.	69	P61106	RAB14_HUMAN	A	69	ENSP00000362946:G69A;ENSP00000400107:G69A	ENSP00000362946:G69A	G	-	2	0	RAB14	122992731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.086000	0.71352	2.512000	0.84698	0.650000	0.86243	GGA	RAB14	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.423	RAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB14	HGNC	protein_coding	OTTHUMT00000053857.1	C	NM_016322		123952910	-1	no_errors	ENST00000373840	ensembl	human	known	70_37	missense	SNP	1.000	G
RARB	5915	genome.wustl.edu	37	3	25637933	25637933	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr3:25637933G>C	ENST00000404969.1	+	8	1194	c.1194G>C	c.(1192-1194)ttG>ttC	p.L398F	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.L391F|RARB_ENST00000437042.2_Missense_Mutation_p.L279F|RARB_ENST00000458646.1_Missense_Mutation_p.L279F			P10826	RARB_HUMAN	retinoic acid receptor, beta	398	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TAATTACCTTGAAAATGGAAA	0.398																																																	0													105.0	105.0	105.0					3																	25637933		2203	4300	6503	SO:0001583	missense	5915			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.1194G>C	3.37:g.25637933G>C	ENSP00000385865:p.Leu398Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.L398F	ENST00000404969.1	37	c.1194		3	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705108	0.68615	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.8	5.8	0.92144	Nuclear hormone receptor, ligand-binding (2);	0.135528	0.47852	D	0.000203	T	0.48390	0.1497	L	0.33189	0.99	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	T	0.16100	-1.0414	10	0.10377	T	0.69	.	20.0499	0.97621	0.0:0.0:1.0:0.0	.	398;391	P10826;F1D8S6	RARB_HUMAN;.	F	398;398;398;279;391;279	ENSP00000373282:L398F;ENSP00000385865:L398F;ENSP00000398840:L279F;ENSP00000332296:L391F;ENSP00000391391:L279F	ENSP00000332296:L391F	L	+	3	2	RARB	25612937	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.645000	0.74343	2.748000	0.94277	0.655000	0.94253	TTG	RARB	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt		0.398	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		G	NM_000965, NM_016152		25637933	+1	no_errors	ENST00000404969	ensembl	human	known	70_37	missense	SNP	1.000	C
RCE1	9986	genome.wustl.edu	37	11	66612502	66612502	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr11:66612502G>C	ENST00000309657.3	+	5	658	c.614G>C	c.(613-615)gGa>gCa	p.G205A	RCE1_ENST00000524506.1_Missense_Mutation_p.G205A|RCE1_ENST00000525356.1_Missense_Mutation_p.G82A	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	205					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTCTTTTTTGGAGTTGGTGAG	0.597																																																	0													58.0	50.0	52.0					11																	66612502		2200	4295	6495	SO:0001583	missense	9986			AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"""farnesylated protein-converting enzyme 2"", ""prenyl protein-specific endoprotease 2"", ""RCE1 homolog, prenyl protein protease"", ""CAAX prenyl protease 2"""	605385	"""RCE1 (S. Cerevisiae) homolog, prenyl protein protease"", ""RCE1 homolog, prenyl protein peptidase (S. cerevisiae)"", ""RCE1 homolog, prenyl protein protease (S. cerevisiae)"""	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.614G>C	11.37:g.66612502G>C	ENSP00000309163:p.Gly205Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LZ9	Missense_Mutation	SNP	pfam_CAAX_protease	p.G205A	ENST00000309657.3	37	c.614	CCDS8151.1	11	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286817	0.80803	.	.	ENSG00000173653	ENST00000309657;ENST00000524506;ENST00000525356	.	.	.	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	L	0.43757	1.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65352	-0.6189	9	0.35671	T	0.21	-3.8857	14.9272	0.70887	0.0:0.0:1.0:0.0	.	205	Q9Y256	FACE2_HUMAN	A	205;205;82	.	ENSP00000309163:G205A	G	+	2	0	RCE1	66369078	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.448000	0.90335	2.452000	0.82932	0.655000	0.94253	GGA	RCE1	-	pfam_CAAX_protease		0.597	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCE1	HGNC	protein_coding	OTTHUMT00000393105.1	G	NM_005133		66612502	+1	no_errors	ENST00000309657	ensembl	human	known	70_37	missense	SNP	1.000	C
RHOBTB1	9886	genome.wustl.edu	37	10	62632020	62632020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr10:62632020C>T	ENST00000337910.5	-	10	2181	c.1844G>A	c.(1843-1845)tGg>tAg	p.W615*	RHOBTB1_ENST00000357917.4_Nonsense_Mutation_p.W615*|RHOBTB1_ENST00000490827.1_5'UTR	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	615					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GTGCAAACACCAGGCGGCCAA	0.473																																																	0													141.0	135.0	137.0					10																	62632020		2203	4300	6503	SO:0001587	stop_gained	9886			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1844G>A	10.37:g.62632020C>T	ENSP00000338671:p.Trp615*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.W615*	ENST00000337910.5	37	c.1844	CCDS7261.1	10	.	.	.	.	.	.	.	.	.	.	C	44	10.781683	0.99466	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6143	0.95626	0.0:1.0:0.0:0.0	.	.	.	.	X	615	.	ENSP00000338671:W615X	W	-	2	0	RHOBTB1	62302026	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.787000	0.85759	2.640000	0.89533	0.561000	0.74099	TGG	RHOBTB1	-	NULL		0.473	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB1	HGNC	protein_coding	OTTHUMT00000048220.1	C			62632020	-1	no_errors	ENST00000337910	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RNF115	27246	genome.wustl.edu	37	1	145650536	145650536	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:145650536C>T	ENST00000369291.5	+	3	419	c.215C>T	c.(214-216)gCa>gTa	p.A72V		NM_014455.2	NP_055270.1			ring finger protein 115											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						ACACATTTTGCAGAGGTAAGT	0.403																																																	0													130.0	128.0	128.0					1																	145650536		2203	4300	6503	SO:0001583	missense	27246			AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"""RING-type (C3HC4) zinc fingers"""	18154	protein-coding gene	gene with protein product			"""zinc finger protein 364"""	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.215C>T	1.37:g.145650536C>T	ENSP00000358297:p.Ala72Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A72V	ENST00000369291.5	37	c.215	CCDS922.1	1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684741	0.47991	.	.	ENSG00000121848	ENST00000369291	T	0.11821	2.74	5.1	4.16	0.48862	.	0.260360	0.37136	N	0.002238	T	0.04407	0.0121	L	0.38175	1.15	0.40957	D	0.984599	B	0.26935	0.164	B	0.27608	0.081	T	0.26258	-1.0108	10	0.22109	T	0.4	-3.3977	10.6439	0.45608	0.1909:0.8091:0.0:0.0	.	72	Q9Y4L5	RN115_HUMAN	V	72	ENSP00000358297:A72V	ENSP00000358297:A72V	A	+	2	0	RNF115	144361893	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.763000	0.38461	1.319000	0.45190	0.655000	0.94253	GCA	RNF115	-	NULL		0.403	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF115	HGNC	protein_coding	OTTHUMT00000038554.2	C	NM_014455		145650536	+1	no_errors	ENST00000369291	ensembl	human	known	70_37	missense	SNP	1.000	T
RHOU	58480	genome.wustl.edu	37	1	228871718	228871718	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:228871718G>A	ENST00000366691.3	+	1	895	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_021205.5	NP_067028.1			ras homolog family member U											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				CTACCCCACCGAGTACATCCC	0.721																																																	0													21.0	25.0	23.0					1																	228871718		2201	4296	6497	SO:0001583	missense	58480				CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"""Ryu GTPase"", ""Wnt-1 responsive Cdc42 homolog"", ""2310026M05Rik"", ""GTP-binding protein like 1"", ""CDC42-like GTPase"", ""GTP-binding protein SB128"", ""ras-like gene family member U"""	606366	"""ras homolog gene family, member U"""	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.229G>A	1.37:g.228871718G>A	ENSP00000355652:p.Glu77Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E77K	ENST00000366691.3	37	c.229	CCDS1575.1	1	.	.	.	.	.	.	.	.	.	.	.	10.55	1.382120	0.24944	.	.	ENSG00000116574	ENST00000366691	T	0.70399	-0.48	3.68	1.76	0.24704	Small GTP-binding protein domain (1);	0.293332	0.32015	N	0.006720	T	0.57946	0.2088	L	0.50847	1.595	0.44181	D	0.996993	B	0.21606	0.058	B	0.19148	0.024	T	0.51568	-0.8689	10	0.56958	D	0.05	.	3.8924	0.09125	0.2337:0.2002:0.5661:0.0	.	77	Q7L0Q8	RHOU_HUMAN	K	77	ENSP00000355652:E77K	ENSP00000355652:E77K	E	+	1	0	RHOU	226938341	1.000000	0.71417	0.998000	0.56505	0.012000	0.07955	3.600000	0.54052	0.229000	0.21039	-0.401000	0.06369	GAG	RHOU	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.721	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOU	HGNC	protein_coding	OTTHUMT00000092555.1	G	NM_021205		228871718	+1	no_errors	ENST00000366691	ensembl	human	known	70_37	missense	SNP	0.999	A
RNF126	55658	genome.wustl.edu	37	19	648229	648229	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:648229C>A	ENST00000292363.5	-	9	990	c.835G>T	c.(835-837)Gcc>Tcc	p.A279S		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		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)		GGGTTCGTGGCCGTGTTCTGT	0.642																																																	0													87.0	71.0	76.0					19																	648229		2195	4297	6492	SO:0001583	missense	55658			BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.835G>T	19.37:g.648229C>A	ENSP00000292363:p.Ala279Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A279S	ENST00000292363.5	37	c.835	CCDS12039.1	19	.	.	.	.	.	.	.	.	.	.	N	16.92	3.256439	0.59321	.	.	ENSG00000070423	ENST00000292363;ENST00000340092	T	0.15256	2.44	3.75	3.75	0.43078	.	0.061314	0.64402	U	0.000005	T	0.22085	0.0532	L	0.29908	0.895	0.47994	D	0.999562	D;B	0.65815	0.995;0.12	P;B	0.59703	0.862;0.032	T	0.02391	-1.1166	10	0.09084	T	0.74	.	14.9304	0.70911	0.0:1.0:0.0:0.0	.	279;131	Q9BV68-2;Q9NPN4	.;.	S	279	ENSP00000292363:A279S	ENSP00000292363:A279S	A	-	1	0	RNF126	599229	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.632000	0.83247	1.812000	0.52913	0.442000	0.29010	GCC	RNF126	-	NULL		0.642	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF126	HGNC	protein_coding	OTTHUMT00000452104.2	C	NM_017876		648229	-1	no_errors	ENST00000292363	ensembl	human	known	70_37	missense	SNP	1.000	A
RNF19A	25897	genome.wustl.edu	37	8	101273866	101273866	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr8:101273866C>T	ENST00000519449.1	-	9	1902	c.1586G>A	c.(1585-1587)cGa>cAa	p.R529Q	RNF19A_ENST00000523255.1_5'UTR|RNF19A_ENST00000341084.2_Missense_Mutation_p.R529Q	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	529					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CAGGTTGTCTCGGATGGCTCC	0.527																																																	0													177.0	131.0	146.0					8																	101273866		2203	4300	6503	SO:0001583	missense	25897			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1586G>A	8.37:g.101273866C>T	ENSP00000428968:p.Arg529Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.R529Q	ENST00000519449.1	37	c.1586	CCDS6286.1	8	.	.	.	.	.	.	.	.	.	.	C	33	5.260261	0.95368	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.84298	-1.83;-1.83	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.85097	0.5619	L	0.44542	1.39	0.58432	D	0.999999	D	0.71674	0.998	P	0.50860	0.652	T	0.82339	-0.0506	10	0.21540	T	0.41	.	18.6531	0.91439	0.0:1.0:0.0:0.0	.	529	Q9NV58	RN19A_HUMAN	Q	529	ENSP00000428968:R529Q;ENSP00000342667:R529Q	ENSP00000342667:R529Q	R	-	2	0	RNF19A	101343042	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	6.085000	0.71343	2.512000	0.84698	0.591000	0.81541	CGA	RNF19A	-	NULL		0.527	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF19A	HGNC	protein_coding	OTTHUMT00000380004.1	C	NM_015435		101273866	-1	no_errors	ENST00000341084	ensembl	human	known	70_37	missense	SNP	1.000	T
RNF6	6049	genome.wustl.edu	37	13	26788558	26788558	+	Silent	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr13:26788558G>A	ENST00000381588.4	-	5	2213	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Silent_p.I487I|RNF6_ENST00000399762.2_Silent_p.I131I|RNF6_ENST00000346166.3_Silent_p.I487I	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	487					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ACCCAGTCATGATCTGCCTTA	0.438																																																	0													81.0	78.0	79.0					13																	26788558		2203	4300	6503	SO:0001819	synonymous_variant	6049			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1461C>T	13.37:g.26788558G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.I487	ENST00000381588.4	37	c.1461	CCDS9316.1	13																																																																																			RNF6	-	NULL		0.438	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF6	HGNC	protein_coding	OTTHUMT00000044246.2	G	NM_005977		26788558	-1	no_errors	ENST00000346166	ensembl	human	known	70_37	silent	SNP	0.999	A
RPGRIP1	57096	genome.wustl.edu	37	14	21788328	21788328	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr14:21788328C>T	ENST00000400017.2	+	11	1459	c.1459C>T	c.(1459-1461)Cag>Tag	p.Q487*	RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.Q129*|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.Q460*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.Q460*|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000206660.6_Nonsense_Mutation_p.Q487*	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	487					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGAGAACACTCAGATCGAGGT	0.448																																																	0													54.0	52.0	52.0					14																	21788328		1924	4140	6064	SO:0001587	stop_gained	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1459C>T	14.37:g.21788328C>T	ENSP00000382895:p.Gln487*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Nonsense_Mutation	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.Q487*	ENST00000400017.2	37	c.1459	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017641	0.93404	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000557351	.	.	.	5.11	3.11	0.35812	.	0.930029	0.09155	N	0.841053	.	.	.	.	.	.	0.20489	N	0.999892	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-1.9001	9.9345	0.41543	0.3699:0.6301:0.0:0.0	.	.	.	.	X	460;460;487;487;129;154	.	ENSP00000206660:Q487X	Q	+	1	0	RPGRIP1	20858168	0.002000	0.14202	0.033000	0.17914	0.007000	0.05969	0.253000	0.18296	1.470000	0.48102	0.557000	0.71058	CAG	RPGRIP1	-	NULL		0.448	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	C	NM_020366		21788328	+1	no_errors	ENST00000206660	ensembl	human	known	70_37	nonsense	SNP	0.015	T
RPS4X	6191	genome.wustl.edu	37	X	71495568	71495568	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:71495568G>A	ENST00000316084.6	-	3	192	c.88C>T	c.(88-90)Cgt>Tgt	p.R30C	RPS4X_ENST00000486733.1_5'UTR|RPS4X_ENST00000373626.3_Missense_Mutation_p.R30C	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	30					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|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)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			NS(1)|large_intestine(1)	2	Renal(35;0.156)					GTGGATGGACGAGGAGCCTGT	0.463																																																	0													35.0	31.0	33.0					X																	71495568		2202	4300	6502	SO:0001583	missense	6191				CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"""S ribosomal proteins"""	10424	protein-coding gene	gene with protein product	"""40S ribosomal protein S4, X isoform"", ""ribosomal protein S4X isoform"", ""single-copy abundant mRNA"", ""cell cycle gene 2"""	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.88C>T	X.37:g.71495568G>A	ENSP00000362744:p.Arg30Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Missense_Mutation	SNP	pfam_Ribosomal_S4e_central,pfam_Ribosomal_S4e_N,pfam_S4_RNA-bd,pfam_KOW,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd	p.R30C	ENST00000316084.6	37	c.88	CCDS14418.1	X	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250480	0.59212	.	.	ENSG00000198034	ENST00000316084;ENST00000373626	.	.	.	4.88	3.96	0.45880	Ribosomal protein S4e, N-terminal (1);	0.069408	0.64402	D	0.000020	T	0.55257	0.1909	M	0.84326	2.69	0.80722	D	1	P;B	0.46395	0.877;0.437	B;B	0.34931	0.192;0.138	T	0.67142	-0.5745	9	0.62326	D	0.03	.	11.8342	0.52314	0.0:0.0:0.8255:0.1745	.	30;30	B7Z1M6;P62701	.;RS4X_HUMAN	C	30	.	ENSP00000362744:R30C	R	-	1	0	RPS4X	71412293	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.614000	0.82996	2.143000	0.66587	0.594000	0.82650	CGT	RPS4X	-	pfam_Ribosomal_S4e_N,pirsf_Ribosomal_S4e		0.463	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS4X	HGNC	protein_coding	OTTHUMT00000057188.1	G	NM_001007		71495568	-1	no_errors	ENST00000316084	ensembl	human	known	70_37	missense	SNP	1.000	A
RUFY4	285180	genome.wustl.edu	37	2	218940282	218940282	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr2:218940282G>A	ENST00000344321.7	+	9	1585	c.1067G>A	c.(1066-1068)gGa>gAa	p.G356E	RUFY4_ENST00000374155.3_Missense_Mutation_p.G376E|RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	356							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCTGTAGAGGGAGCAGTATCA	0.612																																																	0													30.0	34.0	33.0					2																	218940282		1947	4156	6103	SO:0001583	missense	285180			AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1067G>A	2.37:g.218940282G>A	ENSP00000345900:p.Gly356Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZR96	Missense_Mutation	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,pfscan_Run	p.G376E	ENST00000344321.7	37	c.1127		2	.	.	.	.	.	.	.	.	.	.	G	0.122	-1.124206	0.01770	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.43688	1.63;0.94	4.76	-0.413	0.12363	.	1.321200	0.05241	N	0.512257	T	0.21674	0.0522	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16247	-1.0409	10	0.02654	T	1	-1.4283	4.0796	0.09921	0.5178:0.1794:0.3028:0.0	.	356	Q6ZNE9	RUFY4_HUMAN	E	356;376	ENSP00000345900:G356E;ENSP00000363270:G376E	ENSP00000345900:G356E	G	+	2	0	RUFY4	218648527	0.037000	0.19845	0.000000	0.03702	0.001000	0.01503	1.363000	0.34159	-0.220000	0.09988	-0.499000	0.04595	GGA	RUFY4	-	NULL		0.612	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	RUFY4	HGNC	protein_coding		G	NM_198483		218940282	+1	no_errors	ENST00000374155	ensembl	human	known	70_37	missense	SNP	0.000	A
SAMD4A	23034	genome.wustl.edu	37	14	55203957	55203957	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr14:55203957C>G	ENST00000554335.1	+	4	1594	c.931C>G	c.(931-933)Cag>Gag	p.Q311E	SAMD4A_ENST00000392067.3_Missense_Mutation_p.Q311E|SAMD4A_ENST00000357634.3_Missense_Mutation_p.Q310E|SAMD4A_ENST00000251091.5_Intron			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	311					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CTTAGAAGATCAGACCACTGC	0.512																																																	0													147.0	130.0	136.0					14																	55203957		2203	4300	6503	SO:0001583	missense	23034			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.931C>G	14.37:g.55203957C>G	ENSP00000452535:p.Gln311Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.Q311E	ENST00000554335.1	37	c.931	CCDS32084.2	14	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545524	0.27652	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000357634	.	.	.	5.15	5.15	0.70609	.	0.275476	0.35646	N	0.003077	T	0.52484	0.1737	L	0.34521	1.04	0.80722	D	1	B	0.22003	0.063	B	0.16722	0.016	T	0.53472	-0.8434	9	0.87932	D	0	-10.6952	14.4304	0.67246	0.0:0.853:0.147:0.0	.	311	Q9UPU9	SMAG1_HUMAN	E	311;311;310	.	ENSP00000350261:Q310E	Q	+	1	0	SAMD4A	54273707	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.433000	0.52834	2.673000	0.90976	0.655000	0.94253	CAG	SAMD4A	-	NULL		0.512	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4A	HGNC	protein_coding	OTTHUMT00000411186.1	C	NM_015589		55203957	+1	no_errors	ENST00000392067	ensembl	human	known	70_37	missense	SNP	1.000	G
SEPT12	124404	genome.wustl.edu	37	16	4836063	4836063	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:4836063G>C	ENST00000268231.8	-	3	473	c.210C>G	c.(208-210)ttC>ttG	p.F70L	SMIM22_ENST00000589721.1_5'Flank|SMIM22_ENST00000589327.1_5'Flank|SEPT12_ENST00000396693.5_Missense_Mutation_p.F70L|SEPT12_ENST00000591861.1_5'UTR	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	70	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CTTTGGACTTGAACAGCGTGT	0.597																																																	0													65.0	54.0	58.0					16																	4836063		2197	4300	6497	SO:0001583	missense	124404			AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.210C>G	16.37:g.4836063G>C	ENSP00000268231:p.Phe70Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin	p.F70L	ENST00000268231.8	37	c.210	CCDS10522.1	16	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153676	0.78114	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	T;T	0.77877	-1.13;0.54	4.64	3.69	0.42338	.	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	L	0.43757	1.38	0.47441	D	0.999425	D;D	0.89917	1.0;0.999	D;D	0.79784	0.992;0.993	D	0.83394	0.0019	10	0.87932	D	0	.	11.6244	0.51136	0.0875:0.0:0.9125:0.0	.	70;70	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	L	70	ENSP00000379922:F70L;ENSP00000268231:F70L	ENSP00000268231:F70L	F	-	3	2	SEPT12	4776064	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.307000	0.59123	1.168000	0.42723	0.551000	0.68910	TTC	SEPT12	-	pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin		0.597	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT12	HGNC	protein_coding	OTTHUMT00000251645.2	G	NM_144605		4836063	-1	no_errors	ENST00000268231	ensembl	human	known	70_37	missense	SNP	1.000	C
SERPING1	710	genome.wustl.edu	37	11	57369616	57369616	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr11:57369616C>T	ENST00000278407.4	+	4	886	c.659C>T	c.(658-660)tCa>tTa	p.S220L	SERPING1_ENST00000378323.4_Missense_Mutation_p.S225L|SERPING1_ENST00000378324.2_Missense_Mutation_p.S168L|SERPING1_ENST00000403558.1_Missense_Mutation_p.S254L|SERPING1_ENST00000340687.6_Missense_Mutation_p.S220L|SERPING1_ENST00000531605.1_3'UTR	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	220					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GGTGTCACCTCAGTCTCTCAG	0.582																																																	0													94.0	78.0	84.0					11																	57369616		2201	4296	6497	SO:0001583	missense	710			X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.659C>T	11.37:g.57369616C>T	ENSP00000278407:p.Ser220Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S220L	ENST00000278407.4	37	c.659	CCDS7962.1	11	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067843	0.76301	.	.	ENSG00000149131	ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	5.58	4.66	0.58398	Serpin domain (3);	0.196582	0.43919	D	0.000516	T	0.79347	0.4430	L	0.31157	0.91	0.09310	N	1	P;D;P;P	0.55800	0.46;0.973;0.46;0.46	B;P;B;B	0.53146	0.233;0.719;0.233;0.233	T	0.69771	-0.5055	10	0.33940	T	0.23	.	9.395	0.38397	0.0:0.9053:0.0:0.0947	.	225;254;220;220	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	L	220;220;225;168;254	ENSP00000278407:S220L;ENSP00000341861:S220L;ENSP00000367574:S225L;ENSP00000367575:S168L;ENSP00000384420:S254L	ENSP00000278407:S220L	S	+	2	0	SERPING1	57126192	0.008000	0.16893	0.755000	0.31263	0.936000	0.57629	2.149000	0.42244	2.628000	0.89032	0.591000	0.81541	TCA	SERPING1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.582	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SERPING1	HGNC	protein_coding	OTTHUMT00000317465.1	C	NM_000062		57369616	+1	no_errors	ENST00000278407	ensembl	human	known	70_37	missense	SNP	0.041	T
SH3GL1	6455	genome.wustl.edu	37	19	4361723	4361723	+	Silent	SNP	G	G	A	rs201385705		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:4361723G>A	ENST00000269886.3	-	10	1159	c.981C>T	c.(979-981)ttC>ttT	p.F327F	SH3GL1_ENST00000598564.1_Silent_p.F263F|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Silent_p.F279F	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	327	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CGCCCTCATGGAAGCCCAGCT	0.672			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)			Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													103.0	77.0	86.0					19																	4361723		2203	4300	6503	SO:0001819	synonymous_variant	6455				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.981C>T	19.37:g.4361723G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRA1|E7EVZ4|M0QZV5|Q99668	Silent	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.F327	ENST00000269886.3	37	c.981	CCDS32874.1	19																																																																																			SH3GL1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox		0.672	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1	HGNC	protein_coding	OTTHUMT00000458302.1	G	NM_003025		4361723	-1	no_errors	ENST00000269886	ensembl	human	known	70_37	silent	SNP	1.000	A
SH2D3A	10045	genome.wustl.edu	37	19	6755149	6755149	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:6755149G>C	ENST00000245908.6	-	5	943	c.674C>G	c.(673-675)tCt>tGt	p.S225C	SH2D3A_ENST00000437152.3_Missense_Mutation_p.S103C|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	225					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.S225F(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGGACGTTCAGAGGCATCAGG	0.652																																																	1	Substitution - Missense(1)	skin(1)											122.0	135.0	131.0					19																	6755149		2203	4300	6503	SO:0001583	missense	10045			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.674C>G	19.37:g.6755149G>C	ENSP00000245908:p.Ser225Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2	p.S225C	ENST00000245908.6	37	c.674	CCDS12173.1	19	.	.	.	.	.	.	.	.	.	.	G	8.887	0.952949	0.18431	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.34859	2.45;1.34	4.23	4.23	0.50019	Ras guanine nucleotide exchange factor, domain (1);	0.230722	0.22354	N	0.061165	T	0.53997	0.1831	M	0.71581	2.175	0.09310	N	1	D;P	0.69078	0.997;0.876	P;B	0.58873	0.847;0.417	T	0.50338	-0.8840	10	0.62326	D	0.03	-7.915	14.457	0.67423	0.0:0.0:1.0:0.0	.	103;225	B4DRS7;Q9BRG2	.;SH23A_HUMAN	C	225;103	ENSP00000245908:S225C;ENSP00000393303:S103C	ENSP00000245908:S225C	S	-	2	0	SH2D3A	6706149	0.006000	0.16342	0.041000	0.18516	0.069000	0.16628	1.302000	0.33459	2.062000	0.61559	0.462000	0.41574	TCT	SH2D3A	-	superfamily_Ras_GEF_dom		0.652	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D3A	HGNC	protein_coding	OTTHUMT00000458016.1	G	NM_005490		6755149	-1	no_errors	ENST00000245908	ensembl	human	known	70_37	missense	SNP	0.297	C
SLC22A2	6582	genome.wustl.edu	37	6	160638427	160638427	+	3'UTR	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr6:160638427C>G	ENST00000366953.3	-	0	1963				SLC22A2_ENST00000491092.1_5'Flank	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2						body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	TTGCTGCCATCAAAGCTAGGT	0.423																																																	0													94.0	87.0	89.0					6																	160638427		2203	4300	6503	SO:0001624	3_prime_UTR_variant	6582			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.*37G>C	6.37:g.160638427C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	RNA	SNP	-	NULL	ENST00000366953.3	37	NULL	CCDS5276.1	6																																																																																			SLC22A2	-	-		0.423	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A2	HGNC	protein_coding	OTTHUMT00000042943.1	C	NM_003058		160638427	-1	no_errors	ENST00000498556	ensembl	human	known	70_37	rna	SNP	0.001	G
SLC26A5	375611	genome.wustl.edu	37	7	103030907	103030907	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr7:103030907G>C	ENST00000306312.3	-	12	1541	c.1280C>G	c.(1279-1281)gCa>gGa	p.A427G	SLC26A5_ENST00000393735.2_Missense_Mutation_p.A427G|SLC26A5_ENST00000393727.1_Missense_Mutation_p.A427G|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A427G|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A427G|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A390G|SLC26A5_ENST00000432958.2_Missense_Mutation_p.A427G|SLC26A5_ENST00000339444.6_Missense_Mutation_p.A427G	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	427					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GAATCCAGTTGCTAATATGAC	0.398																																																	0													119.0	119.0	119.0					7																	103030907		2203	4300	6503	SO:0001583	missense	375611			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1280C>G	7.37:g.103030907G>C	ENSP00000304783:p.Ala427Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.A427G	ENST00000306312.3	37	c.1280	CCDS5733.1	7	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231398	0.79688	.	.	ENSG00000170615	ENST00000339444;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	4.92	4.92	0.64577	Sulphate transporter (1);	0.050526	0.85682	D	0.000000	D	0.95316	0.8480	M	0.62016	1.91	0.80722	D	1	P;D;D;D	0.89917	0.941;1.0;0.999;0.999	P;D;D;D	0.79108	0.9;0.992;0.952;0.974	D	0.94690	0.7873	10	0.49607	T	0.09	.	11.5993	0.50993	0.0836:0.0:0.9164:0.0	.	427;427;427;427	P58743;Q496J2;P58743-3;P58743-2	S26A5_HUMAN;.;.;.	G	427;427;427;427;427;390;427;427	ENSP00000342396:A427G;ENSP00000377336:A427G;ENSP00000304783:A427G;ENSP00000377331:A427G;ENSP00000389733:A427G;ENSP00000377330:A390G;ENSP00000377328:A427G;ENSP00000377324:A427G	ENSP00000304783:A427G	A	-	2	0	SLC26A5	102818143	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.486000	0.66856	2.427000	0.82271	0.563000	0.77884	GCA	SLC26A5	-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.398	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A5	HGNC	protein_coding	OTTHUMT00000313860.1	G	NM_198999		103030907	-1	no_errors	ENST00000306312	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC5A11	115584	genome.wustl.edu	37	16	24902257	24902257	+	Silent	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:24902257G>C	ENST00000347898.3	+	9	1354	c.732G>C	c.(730-732)cgG>cgC	p.R244R	SLC5A11_ENST00000568579.1_Silent_p.R174R|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000545376.1_Silent_p.R174R|SLC5A11_ENST00000539472.1_Silent_p.R180R|SLC5A11_ENST00000424767.2_Silent_p.R209R|SLC5A11_ENST00000567758.1_Silent_p.R209R|SLC5A11_ENST00000565769.1_Silent_p.R180R|SLC5A11_ENST00000569071.1_Intron	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTAGCAACCGGAGTGAGAACA	0.557																																																	0													126.0	130.0	128.0					16																	24902257		2197	4300	6497	SO:0001819	synonymous_variant	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.732G>C	16.37:g.24902257G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.R244	ENST00000347898.3	37	c.732	CCDS10625.1	16																																																																																			SLC5A11	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.557	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	HGNC	protein_coding	OTTHUMT00000214091.3	G	NM_052944		24902257	+1	no_errors	ENST00000347898	ensembl	human	known	70_37	silent	SNP	0.864	C
SOCS6	9306	genome.wustl.edu	37	18	67993286	67993286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr18:67993286C>A	ENST00000397942.3	+	2	1698	c.1382C>A	c.(1381-1383)tCa>tAa	p.S461*	SOCS6_ENST00000582322.1_Nonsense_Mutation_p.S461*	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	461	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				ATTGAGCATTCAATCAGGGAC	0.453																																					Melanoma(84;1024 1361 24382 36583 42651)												0													117.0	113.0	114.0					18																	67993286		2203	4300	6503	SO:0001587	stop_gained	9306			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.1382C>A	18.37:g.67993286C>A	ENSP00000381034:p.Ser461*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WUM3	Nonsense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.S461*	ENST00000397942.3	37	c.1382	CCDS11998.1	18	.	.	.	.	.	.	.	.	.	.	C	39	7.302348	0.98196	.	.	ENSG00000170677	ENST00000397942	.	.	.	5.7	3.94	0.45596	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8719	12.2201	0.54429	0.0:0.8633:0.0:0.1367	.	.	.	.	X	461	.	ENSP00000381034:S461X	S	+	2	0	SOCS6	66144266	1.000000	0.71417	0.963000	0.40424	0.972000	0.66771	7.666000	0.83877	0.771000	0.33359	-0.258000	0.10820	TCA	SOCS6	-	smart_SH2,pfscan_SH2		0.453	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	HGNC	protein_coding	OTTHUMT00000256270.2	C			67993286	+1	no_errors	ENST00000397942	ensembl	human	known	70_37	nonsense	SNP	0.998	A
SPEF2	79925	genome.wustl.edu	37	5	35700753	35700753	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:35700753C>T	ENST00000356031.3	+	16	2451	c.2297C>T	c.(2296-2298)gCg>gTg	p.A766V	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.A761V|SPEF2_ENST00000440995.2_Missense_Mutation_p.A761V	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	766					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTGATCCTGCGACTTCCAAA	0.383																																																	0													148.0	130.0	136.0					5																	35700753		1840	4088	5928	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2297C>T	5.37:g.35700753C>T	ENSP00000348314:p.Ala766Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain	p.A766V	ENST00000356031.3	37	c.2297	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	C	5.236	0.229059	0.09916	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.31510	3.38;3.23;3.37;1.49	5.67	2.93	0.34026	.	0.575006	0.18100	N	0.151701	T	0.15825	0.0381	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.0;0.002;0.0	T	0.18967	-1.0320	10	0.37606	T	0.19	.	7.2126	0.25941	0.0:0.5939:0.2605:0.1456	.	761;761;766	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	V	766;761;761;272	ENSP00000348314:A766V;ENSP00000421593:A761V;ENSP00000412125:A761V;ENSP00000421744:A272V	ENSP00000348314:A766V	A	+	2	0	SPEF2	35736510	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.085000	0.11250	0.326000	0.23384	-0.244000	0.11960	GCG	SPEF2	-	NULL		0.383	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	C	NM_144722		35700753	+1	no_errors	ENST00000356031	ensembl	human	known	70_37	missense	SNP	0.000	T
STXBP1	6812	genome.wustl.edu	37	9	130428485	130428485	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr9:130428485G>A	ENST00000373299.1	+	9	819	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	STXBP1_ENST00000373302.3_Missense_Mutation_p.R235Q	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	235					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						ATCCTGGATCGAGGCTTTGAC	0.522																																																	0													110.0	96.0	101.0					9																	130428485		2203	4300	6503	SO:0001583	missense	6812			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.704G>A	9.37:g.130428485G>A	ENSP00000362396:p.Arg235Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.R235Q	ENST00000373299.1	37	c.704	CCDS35146.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.820164	0.96989	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	D;D	0.99239	-5.61;-5.61	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97620	1.0135	10	0.87932	D	0	-14.7911	17.3903	0.87428	0.0:0.0:1.0:0.0	.	235;235	P61764;P61764-2	STXB1_HUMAN;.	Q	189;235;67;235	ENSP00000362399:R235Q;ENSP00000362396:R235Q	ENSP00000362396:R235Q	R	+	2	0	STXBP1	129468306	1.000000	0.71417	0.984000	0.44739	0.987000	0.75469	9.758000	0.98927	2.717000	0.92951	0.655000	0.94253	CGA	STXBP1	-	pfam_Sec1-like,superfamily_Sec1-like		0.522	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	HGNC	protein_coding	OTTHUMT00000054229.1	G	NM_003165		130428485	+1	no_errors	ENST00000373299	ensembl	human	known	70_37	missense	SNP	1.000	A
SUGT1	10910	genome.wustl.edu	37	13	53239860	53239860	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr13:53239860G>C	ENST00000343788.6	+	10	689	c.607G>C	c.(607-609)Gaa>Caa	p.E203Q	SUGT1_ENST00000310528.8_Missense_Mutation_p.E171Q|SUGT1_ENST00000535397.1_Missense_Mutation_p.E115Q	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	203	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GGAATTTTCAGAAAAAGAGGT	0.279																																																	0													70.0	74.0	72.0					13																	53239860		2201	4293	6494	SO:0001583	missense	10910			AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.607G>C	13.37:g.53239860G>C	ENSP00000367208:p.Glu203Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	pfam_SGS,pfam_CS_domain,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS-like_domain,pfscan_SGS,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E203Q	ENST00000343788.6	37	c.607	CCDS45050.1	13	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078488	0.76528	.	.	ENSG00000165416	ENST00000343788;ENST00000535397;ENST00000310528	T;T;T	0.15372	2.43;2.43;2.43	5.77	5.77	0.91146	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.094180	0.64402	D	0.000001	T	0.39835	0.1093	M	0.74546	2.27	0.58432	D	0.999999	P;P;P;P	0.43352	0.575;0.67;0.804;0.619	B;P;P;B	0.55222	0.312;0.643;0.771;0.441	T	0.01889	-1.1253	9	.	.	.	-14.4941	18.7541	0.91826	0.0:0.0:1.0:0.0	.	115;115;203;171	F5H5A9;B4DYC6;Q9Y2Z0;Q9Y2Z0-2	.;.;SUGT1_HUMAN;.	Q	203;115;171	ENSP00000367208:E203Q;ENSP00000443521:E115Q;ENSP00000308067:E171Q	.	E	+	1	0	SUGT1	52137861	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	7.929000	0.87595	2.734000	0.93682	0.650000	0.86243	GAA	SUGT1	-	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain		0.279	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUGT1	HGNC	protein_coding	OTTHUMT00000045104.2	G			53239860	+1	no_errors	ENST00000343788	ensembl	human	known	70_37	missense	SNP	1.000	C
SYT1	6857	genome.wustl.edu	37	12	79747354	79747354	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr12:79747354C>A	ENST00000261205.4	+	9	1540	c.883C>A	c.(883-885)Ctg>Atg	p.L295M	SYT1_ENST00000552744.1_Missense_Mutation_p.L295M|SYT1_ENST00000393240.3_Missense_Mutation_p.L295M|SYT1_ENST00000457153.2_Missense_Mutation_p.L292M	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	295	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TGTTGTCATTCTGGAGGCAAA	0.428																																																	0													272.0	250.0	258.0					12																	79747354		2203	4300	6503	SO:0001583	missense	6857				CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.883C>A	12.37:g.79747354C>A	ENSP00000261205:p.Leu295Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AI31	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.L295M	ENST00000261205.4	37	c.883	CCDS9017.1	12	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269286	0.80469	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	6.06	5.18	0.71444	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.85682	D	0.000000	T	0.70937	0.3281	L	0.37800	1.135	0.80722	D	1	P;P	0.34892	0.474;0.474	P;P	0.47827	0.558;0.558	T	0.71185	-0.4667	10	0.46703	T	0.11	.	12.1988	0.54313	0.0:0.8641:0.0:0.1359	.	295;295	Q6AI31;P21579	.;SYT1_HUMAN	M	295;295;292;295	ENSP00000376932:L295M;ENSP00000261205:L295M;ENSP00000391056:L292M;ENSP00000447575:L295M	ENSP00000261205:L295M	L	+	1	2	SYT1	78271485	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.083000	0.71326	1.575000	0.49775	0.650000	0.86243	CTG	SYT1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin		0.428	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT1	HGNC	protein_coding	OTTHUMT00000259415.1	C	NM_005639		79747354	+1	no_errors	ENST00000261205	ensembl	human	known	70_37	missense	SNP	1.000	A
TBC1D9	23158	genome.wustl.edu	37	4	141555331	141555331	+	Silent	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr4:141555331G>C	ENST00000442267.2	-	16	2591	c.2517C>G	c.(2515-2517)ctC>ctG	p.L839L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	839							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGCAGCTGGTGAGATGTTCTG	0.537																																																	0													65.0	68.0	67.0					4																	141555331		2081	4223	6304	SO:0001819	synonymous_variant	23158			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2517C>G	4.37:g.141555331G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8U8|D3DNZ1|O94958	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.L839	ENST00000442267.2	37	c.2517	CCDS47136.1	4																																																																																			TBC1D9	-	NULL		0.537	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	HGNC	protein_coding	OTTHUMT00000364806.1	G	NM_015130		141555331	-1	no_errors	ENST00000442267	ensembl	human	known	70_37	silent	SNP	0.487	C
TCOF1	6949	genome.wustl.edu	37	5	149755767	149755767	+	Silent	SNP	G	G	A	rs372688212		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:149755767G>A	ENST00000504761.2	+	13	2016	c.2016G>A	c.(2014-2016)gcG>gcA	p.A672A	TCOF1_ENST00000323668.7_Silent_p.A595A|TCOF1_ENST00000513346.1_Silent_p.A672A|TCOF1_ENST00000394269.3_Silent_p.A672A|TCOF1_ENST00000377797.3_Silent_p.A672A|TCOF1_ENST00000445265.2_Silent_p.A595A|TCOF1_ENST00000451292.1_Silent_p.A672A|TCOF1_ENST00000439160.2_Silent_p.A672A			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	672					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGAACTGCGACTTCTCCAG	0.582																																																	0													109.0	127.0	121.0					5																	149755767		2201	4299	6500	SO:0001819	synonymous_variant	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2016G>A	5.37:g.149755767G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.A672	ENST00000504761.2	37	c.2016	CCDS54936.1	5																																																																																			TCOF1	-	pfam_TCS_treacle		0.582	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	G	NM_001008656		149755767	+1	no_errors	ENST00000451292	ensembl	human	known	70_37	silent	SNP	0.000	A
TDRD1	56165	genome.wustl.edu	37	10	115986992	115986992	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr10:115986992G>C	ENST00000251864.2	+	23	3490	c.3337G>C	c.(3337-3339)Gat>Cat	p.D1113H	TDRD1_ENST00000369282.1_Intron|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369280.1_Intron|TDRD1_ENST00000369281.2_Missense_Mutation_p.D999H	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1113					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CGATGTAGCTGATAAGCTAGT	0.363																																																	0													163.0	152.0	156.0					10																	115986992		2203	4300	6503	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000251864.2:c.3337G>C	10.37:g.115986992G>C	ENSP00000251864:p.Asp1113His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.D1113H	ENST00000251864.2	37	c.3337	CCDS7588.1	10	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380294	0.42207	.	.	ENSG00000095627	ENST00000251864;ENST00000369281	T;T	0.20881	2.71;2.04	6.07	3.11	0.35812	.	0.258920	0.37530	N	0.002044	T	0.33876	0.0878	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.71674	0.99;0.995;0.994;0.998	P;P;P;P	0.61592	0.688;0.688;0.835;0.891	T	0.05022	-1.0911	10	0.72032	D	0.01	-7.5067	8.9079	0.35535	0.2438:0.0:0.7562:0.0	.	1113;999;1113;999	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	H	1113;999	ENSP00000251864:D1113H;ENSP00000358287:D999H	ENSP00000251864:D1113H	D	+	1	0	TDRD1	115976982	0.776000	0.28616	0.970000	0.41538	0.162000	0.22319	0.909000	0.28558	0.842000	0.35045	0.650000	0.86243	GAT	TDRD1	-	NULL		0.363	TDRD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD1	HGNC	protein_coding		G			115986992	+1	no_errors	ENST00000251864	ensembl	human	known	70_37	missense	SNP	0.999	C
TEP1	7011	genome.wustl.edu	37	14	20873630	20873630	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr14:20873630C>G	ENST00000262715.5	-	4	890	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	TEP1_ENST00000556935.1_Missense_Mutation_p.E284Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	284	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AACTCAGGCTCCAGGAGGGCA	0.517																																																	0													132.0	125.0	127.0					14																	20873630		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.850G>C	14.37:g.20873630C>G	ENSP00000262715:p.Glu284Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E284Q	ENST00000262715.5	37	c.850	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	C	16.62	3.175113	0.57692	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.15952	2.38;2.38	4.84	4.84	0.62591	TROVE (2);	0.060295	0.64402	D	0.000005	T	0.42314	0.1197	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.982;0.99	T	0.26395	-1.0104	10	0.59425	D	0.04	-17.8985	17.2355	0.86997	0.0:1.0:0.0:0.0	.	284;284	G3V5X7;Q99973	.;TEP1_HUMAN	Q	284	ENSP00000262715:E284Q;ENSP00000452574:E284Q	ENSP00000262715:E284Q	E	-	1	0	TEP1	19943470	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.545000	0.60698	2.679000	0.91253	0.655000	0.94253	GAG	TEP1	-	pfam_TROVE,pfscan_TROVE		0.517	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	C	NM_007110		20873630	-1	no_errors	ENST00000262715	ensembl	human	known	70_37	missense	SNP	0.999	G
TFCP2	7024	genome.wustl.edu	37	12	51492613	51492613	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr12:51492613G>C	ENST00000257915.5	-	13	1823	c.1365C>G	c.(1363-1365)atC>atG	p.I455M	TFCP2_ENST00000549867.1_Missense_Mutation_p.I377M|TFCP2_ENST00000548115.1_Missense_Mutation_p.I404M|TFCP2_ENST00000307660.4_Missense_Mutation_p.I404M	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	455					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AAATCTGGCTGATCTGGCAAG	0.393																																																	0													121.0	110.0	113.0					12																	51492613		2203	4300	6503	SO:0001583	missense	7024			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.1365C>G	12.37:g.51492613G>C	ENSP00000257915:p.Ile455Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	pfam_CP2,superfamily_SAM/pointed	p.I455M	ENST00000257915.5	37	c.1365	CCDS8808.1	12	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539285	0.65085	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115;ENST00000548108	T;T;T;T;T	0.60548	1.7;0.22;1.73;0.18;1.55	5.84	4.95	0.65309	.	0.046947	0.85682	D	0.000000	T	0.75817	0.3901	M	0.85859	2.78	0.45194	D	0.998206	D;D;D;D	0.76494	0.997;0.997;0.999;0.999	D;D;D;D	0.78314	0.991;0.991;0.98;0.984	T	0.79140	-0.1926	10	0.87932	D	0	-15.9231	9.6371	0.39817	0.0742:0.0:0.7843:0.1414	.	404;377;455;455	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	M	455;404;377;404;357	ENSP00000257915:I455M;ENSP00000304411:I404M;ENSP00000449742:I377M;ENSP00000447991:I404M;ENSP00000449280:I357M	ENSP00000257915:I455M	I	-	3	3	TFCP2	49778880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.971000	0.40530	1.623000	0.50342	0.650000	0.86243	ATC	TFCP2	-	NULL		0.393	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2	HGNC	protein_coding	OTTHUMT00000405119.1	G	NM_005653		51492613	-1	no_errors	ENST00000257915	ensembl	human	known	70_37	missense	SNP	1.000	C
TGFB3	7043	genome.wustl.edu	37	14	76447123	76447123	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr14:76447123C>G	ENST00000238682.3	-	1	411	c.114G>C	c.(112-114)aaG>aaC	p.K38N	TGFB3_ENST00000556285.1_Missense_Mutation_p.K38N|TGFB3_ENST00000556674.1_5'Flank	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	38					activation of MAPK activity (GO:0000187)|aging (GO:0007568)|blood coagulation (GO:0007596)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|detection of hypoxia (GO:0070483)|digestive tract development (GO:0048565)|embryonic neurocranium morphogenesis (GO:0048702)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|mammary gland development (GO:0030879)|menstrual cycle phase (GO:0022601)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|odontogenesis (GO:0042476)|ossification involved in bone remodeling (GO:0043932)|palate development (GO:0060021)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell division (GO:0051781)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|salivary gland morphogenesis (GO:0007435)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|T-tubule (GO:0030315)	identical protein binding (GO:0042802)|transforming growth factor beta binding (GO:0050431)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CTTCCACCCTCTTCTTCTTGA	0.597																																																	0													142.0	142.0	142.0					14																	76447123		2203	4300	6503	SO:0001583	missense	7043				CCDS9846.1	14q24	2014-09-17				ENSG00000119699		"""Endogenous ligands"""	11769	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-3"""	190230	"""arrhythmogenic right ventricular dysplasia 1"""	ARVD1, ARVD		16549496, 15639475	Standard	XM_005268028		Approved		uc001xsc.2	P10600		ENST00000238682.3:c.114G>C	14.37:g.76447123C>G	ENSP00000238682:p.Lys38Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WV88	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_Transform_grow_fac_b3,prints_TGF-beta	p.K38N	ENST00000238682.3	37	c.114	CCDS9846.1	14	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297787	0.60086	.	.	ENSG00000119699	ENST00000238682;ENST00000556285	T;T	0.66280	-0.2;-0.2	4.65	4.65	0.58169	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78387	0.4275	M	0.82193	2.58	0.50313	D	0.99986	D	0.76494	0.999	D	0.87578	0.998	T	0.80915	-0.1169	10	0.72032	D	0.01	-23.9375	10.3778	0.44092	0.0:0.9078:0.0:0.0922	.	38	P10600	TGFB3_HUMAN	N	38	ENSP00000238682:K38N;ENSP00000451110:K38N	ENSP00000238682:K38N	K	-	3	2	TGFB3	75516876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.886000	0.63149	2.302000	0.77476	0.561000	0.74099	AAG	TGFB3	-	pfam_TGF-b_N,pirsf_TGF-beta		0.597	TGFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB3	HGNC	protein_coding	OTTHUMT00000413685.1	C	NM_003239		76447123	-1	no_errors	ENST00000238682	ensembl	human	known	70_37	missense	SNP	1.000	G
TIE1	7075	genome.wustl.edu	37	1	43783117	43783117	+	Intron	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:43783117C>G	ENST00000372476.3	+	15	2699				TIE1_ENST00000433781.2_Intron|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1						angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCTGATGCTCTCCTTTGTCC	0.557																																																	0													37.0	41.0	40.0					1																	43783117		2203	4300	6503	SO:0001627	intron_variant	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2620+37C>G	1.37:g.43783117C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B5A949|B5A950	RNA	SNP	-	NULL	ENST00000372476.3	37	NULL	CCDS482.1	1																																																																																			TIE1	-	-		0.557	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	C	NM_005424		43783117	+1	no_errors	ENST00000473014	ensembl	human	known	70_37	rna	SNP	0.070	G
TIE1	7075	genome.wustl.edu	37	1	43783303	43783303	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:43783303C>A	ENST00000372476.3	+	16	2768	c.2689C>A	c.(2689-2691)Cac>Aac	p.H897N	TIE1_ENST00000433781.2_Missense_Mutation_p.H542N|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	897	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATTGGGGCATCACCCCAACAT	0.507																																																	0													139.0	153.0	148.0					1																	43783303		2203	4300	6503	SO:0001583	missense	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2689C>A	1.37:g.43783303C>A	ENSP00000361554:p.His897Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B5A949|B5A950	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H897N	ENST00000372476.3	37	c.2689	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222807	0.79464	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.77877	-1.13;-1.13	5.66	4.74	0.60224	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42172	D	0.000742	D	0.87018	0.6073	M	0.81341	2.54	0.80722	D	1	D;D;D	0.60575	0.988;0.984;0.988	D;P;D	0.63033	0.91;0.88;0.91	D	0.88891	0.3346	10	0.87932	D	0	.	14.4637	0.67470	0.0:0.9292:0.0:0.0708	.	852;542;897	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	N	897;300;180;542	ENSP00000361554:H897N;ENSP00000411728:H542N	ENSP00000361553:H300N	H	+	1	0	TIE1	43555890	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	1.388000	0.46506	0.655000	0.94253	CAC	TIE1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.507	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	C	NM_005424		43783303	+1	no_errors	ENST00000372476	ensembl	human	known	70_37	missense	SNP	1.000	A
TIE1	7075	genome.wustl.edu	37	1	43783486	43783486	+	Intron	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:43783486C>T	ENST00000372476.3	+	17	2810				TIE1_ENST00000433781.2_Intron|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1						angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGTTACCATCGGGTGCCTGC	0.537																																																	0																																										SO:0001627	intron_variant	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2732-67C>T	1.37:g.43783486C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B5A949|B5A950	RNA	SNP	-	NULL	ENST00000372476.3	37	NULL	CCDS482.1	1																																																																																			TIE1	-	-		0.537	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	C	NM_005424		43783486	+1	no_errors	ENST00000473014	ensembl	human	known	70_37	rna	SNP	0.000	T
TIGD4	201798	genome.wustl.edu	37	4	153690664	153690664	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr4:153690664G>A	ENST00000304337.2	-	2	2313	c.1493C>T	c.(1492-1494)tCt>tTt	p.S498F		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	498						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					GTCTGCTAAAGAATTTTGAAG	0.299																																																	0													36.0	41.0	40.0					4																	153690664		2202	4300	6502	SO:0001583	missense	201798			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.1493C>T	4.37:g.153690664G>A	ENSP00000355162:p.Ser498Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96LP5	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.S498F	ENST00000304337.2	37	c.1493	CCDS34079.1	4	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869288	0.32977	.	.	ENSG00000169989	ENST00000304337	T	0.15017	2.46	6.08	6.08	0.98989	Centromere protein Cenp-B, dimerisation domain (1);	0.133659	0.34828	N	0.003648	T	0.20414	0.0491	L	0.27053	0.805	0.39204	D	0.963192	P	0.40050	0.7	P	0.45506	0.483	T	0.01071	-1.1461	10	0.62326	D	0.03	-19.9271	17.405	0.87471	0.0:0.0:1.0:0.0	.	498	Q8IY51	TIGD4_HUMAN	F	498	ENSP00000355162:S498F	ENSP00000355162:S498F	S	-	2	0	TIGD4	153910114	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	5.944000	0.70219	2.894000	0.99253	0.591000	0.81541	TCT	TIGD4	-	pfam_Centromere_CenpB_dimerisation		0.299	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD4	HGNC	protein_coding	OTTHUMT00000365028.1	G	NM_145720		153690664	-1	no_errors	ENST00000304337	ensembl	human	known	70_37	missense	SNP	1.000	A
TIMP4	7079	genome.wustl.edu	37	3	12198411	12198411	+	Silent	SNP	G	G	C	rs370491983		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr3:12198411G>C	ENST00000287814.4	-	3	771	c.261C>G	c.(259-261)gtC>gtG	p.V87V	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	87	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						GAACATCCTTGACTTTCTCAA	0.393																																					Melanoma(199;1446 2144 30617 38794 51714)												0								G	,,	0,4406		0,0,2203	111.0	99.0	103.0		,261,	2.9	1.0	3		103	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,intron	SYN2,TIMP4	NM_003178.4,NM_003256.3,NM_133625.3	,,	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	,,	,87/225,	12198411	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7079			U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"""tissue inhibitor of metalloproteinase 4"""			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763	ENST00000287814.4:c.261C>G	3.37:g.12198411G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7K6	Silent	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.V87	ENST00000287814.4	37	c.261	CCDS2608.1	3																																																																																			TIMP4	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain		0.393	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP4	HGNC	protein_coding	OTTHUMT00000251978.1	G	NM_003256		12198411	-1	no_errors	ENST00000287814	ensembl	human	known	70_37	silent	SNP	1.000	C
TLL2	7093	genome.wustl.edu	37	10	98129927	98129927	+	Silent	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr10:98129927C>T	ENST00000357947.3	-	20	3033	c.2808G>A	c.(2806-2808)cgG>cgA	p.R936R		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	936	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCTCAAAGGTCCGGAATGTCA	0.632																																																	0													95.0	79.0	84.0					10																	98129927		2203	4300	6503	SO:0001819	synonymous_variant	7093			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2808G>A	10.37:g.98129927C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.R936	ENST00000357947.3	37	c.2808	CCDS7449.1	10																																																																																			TLL2	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB		0.632	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL2	HGNC	protein_coding	OTTHUMT00000049608.1	C			98129927	-1	no_errors	ENST00000357947	ensembl	human	known	70_37	silent	SNP	0.806	T
TMCC1	23023	genome.wustl.edu	37	3	129370446	129370446	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr3:129370446delG	ENST00000393238.3	-	6	2180	c.1840delC	c.(1840-1842)ctcfs	p.L614fs	TMCC1_ENST00000432054.2_Frame_Shift_Del_p.L290fs|TMCC1_ENST00000329333.5_Frame_Shift_Del_p.L435fs|TMCC1_ENST00000426664.2_Frame_Shift_Del_p.L500fs	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	614						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GTCTTCATGAGGGGGACCACA	0.517																																																	0													159.0	142.0	148.0					3																	129370446		2203	4300	6503	SO:0001589	frameshift_variant	23023			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1840delC	3.37:g.129370446delG	ENSP00000376930:p.Leu614fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Frame_Shift_Del	DEL	pfam_Predicted_TM_coiled-coil_2	p.L614fs	ENST00000393238.3	37	c.1840	CCDS33855.1	3																																																																																			TMCC1	-	pfam_Predicted_TM_coiled-coil_2		0.517	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC1	HGNC	protein_coding	OTTHUMT00000356418.2	G	NM_015008		129370446	-1	no_errors	ENST00000393238	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
TMEM59	9528	genome.wustl.edu	37	1	54497885	54497885	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:54497885C>T	ENST00000234831.5	-	8	1159	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	TMEM59_ENST00000371341.1_Missense_Mutation_p.E173K|TMEM59_ENST00000371344.1_Missense_Mutation_p.E173K|TMEM59_ENST00000470395.1_5'UTR|TMEM59_ENST00000371348.1_Missense_Mutation_p.E173K	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	304					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						TCATGATCTTCAGTTTTAGAT	0.348																																																	0													89.0	89.0	89.0					1																	54497885		2202	4300	6502	SO:0001583	missense	9528			AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 8"""	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.910G>A	1.37:g.54497885C>T	ENSP00000234831:p.Glu304Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Missense_Mutation	SNP	pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m	p.E304K	ENST00000234831.5	37	c.910	CCDS586.1	1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104696	0.56291	.	.	ENSG00000116209	ENST00000371348;ENST00000371344;ENST00000234831;ENST00000371341	T	0.45276	0.9	5.16	5.16	0.70880	.	0.191408	0.44902	D	0.000401	T	0.38214	0.1032	L	0.51422	1.61	0.80722	D	1	B;B	0.33694	0.421;0.063	B;B	0.29785	0.107;0.026	T	0.15896	-1.0421	10	0.19147	T	0.46	.	18.8415	0.92186	0.0:1.0:0.0:0.0	.	305;304	D3DQ48;Q9BXS4	.;TMM59_HUMAN	K	173;173;304;173	ENSP00000234831:E304K	ENSP00000234831:E304K	E	-	1	0	TMEM59	54270473	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.263000	0.65507	2.672000	0.90937	0.650000	0.86243	GAA	TMEM59	-	NULL		0.348	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM59	HGNC	protein_coding	OTTHUMT00000023254.2	C	NM_004872		54497885	-1	no_errors	ENST00000234831	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM80	283232	genome.wustl.edu	37	11	703087	703087	+	Silent	SNP	C	C	T	rs560710224		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr11:703087C>T	ENST00000608174.1	+	5	581	c.444C>T	c.(442-444)ctC>ctT	p.L148L	TMEM80_ENST00000397510.3_Silent_p.L196L|TMEM80_ENST00000397512.3_Silent_p.L140L|TMEM80_ENST00000528024.1_3'UTR	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80	148						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCGCCACGCTCCTGGCCCTTC	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		16948	0.0		0.0	False		,,,				2504	0.001																0													21.0	22.0	22.0					11																	703087		2199	4286	6485	SO:0001819	synonymous_variant	283232				CCDS41587.1, CCDS41587.2, CCDS73231.1	11p15.5	2005-10-18			ENSG00000177042	ENSG00000177042			27453	protein-coding gene	gene with protein product						12477932	Standard	NM_001042463		Approved	FLJ38216	uc010qwi.2	Q96HE8	OTTHUMG00000133307	ENST00000608174.1:c.444C>T	11.37:g.703087C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQ01|A8MXY8|B7WNU5	Silent	SNP	pfam_Uncharacterised_TM-17	p.L148	ENST00000608174.1	37	c.444	CCDS41587.1	11																																																																																			TMEM80	-	pfam_Uncharacterised_TM-17		0.697	TMEM80-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMEM80	HGNC	protein_coding	OTTHUMT00000257104.2	C	NM_174940		703087	+1	no_errors	ENST00000397510	ensembl	human	known	70_37	silent	SNP	0.152	T
TNS4	84951	genome.wustl.edu	37	17	38645133	38645133	+	Silent	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:38645133G>A	ENST00000254051.6	-	3	686	c.528C>T	c.(526-528)ttC>ttT	p.F176F		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	176	Ser-rich.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GAAGGGAGCCGAAGGGCGGGG	0.622																																																	0													51.0	63.0	59.0					17																	38645133		2200	4299	6499	SO:0001819	synonymous_variant	84951			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.528C>T	17.37:g.38645133G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2	p.F176	ENST00000254051.6	37	c.528	CCDS11368.1	17																																																																																			TNS4	-	NULL		0.622	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS4	HGNC	protein_coding	OTTHUMT00000257154.3	G	NM_032865		38645133	-1	no_errors	ENST00000254051	ensembl	human	known	70_37	silent	SNP	0.238	A
TRAPPC9	83696	genome.wustl.edu	37	8	140743268	140743268	+	3'UTR	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr8:140743268C>T	ENST00000438773.2	-	0	3616				TRAPPC9_ENST00000389328.4_3'UTR|TRAPPC9_ENST00000389327.3_3'UTR|TRAPPC9_ENST00000522504.1_5'UTR	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9						cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGGGTCACCTCTGGCCCTGCA	0.667																																																	0													34.0	32.0	33.0					8																	140743268		2199	4299	6498	SO:0001624	3_prime_UTR_variant	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.*36G>A	8.37:g.140743268C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	RNA	SNP	-	NULL	ENST00000438773.2	37	NULL	CCDS55278.1	8																																																																																			TRAPPC9	-	-		0.667	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	C	NM_031466		140743268	-1	no_errors	ENST00000521667	ensembl	human	known	70_37	rna	SNP	0.021	T
TRIM13	10206	genome.wustl.edu	37	13	50587012	50587012	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr13:50587012G>T	ENST00000378182.3	+	2	1674	c.936G>T	c.(934-936)tgG>tgT	p.W312C	TRIM13_ENST00000457662.2_Missense_Mutation_p.W312C|TRIM13_ENST00000420995.2_Missense_Mutation_p.W312C|KCNRG_ENST00000312942.1_5'Flank|TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000360473.4_5'Flank|TRIM13_ENST00000298772.5_Missense_Mutation_p.W315C|TRIM13_ENST00000356017.4_Missense_Mutation_p.W315C	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	312					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		AGATTCCCTGGAGCTTTTATA	0.398																																																	0													200.0	215.0	210.0					13																	50587012		2203	4300	6503	SO:0001583	missense	10206			AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.936G>T	13.37:g.50587012G>T	ENSP00000367424:p.Trp312Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.W315C	ENST00000378182.3	37	c.945	CCDS9423.1	13	.	.	.	.	.	.	.	.	.	.	G	8.550	0.875296	0.17395	.	.	ENSG00000204977	ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T	0.24350	1.86;1.86;2.4;1.86;2.4	5.75	5.75	0.90469	.	0.666558	0.16135	N	0.228010	T	0.21509	0.0518	N	0.14661	0.345	0.48975	D	0.999739	D;D	0.58970	0.973;0.984	B;P	0.50192	0.43;0.634	T	0.01225	-1.1413	9	.	.	.	-3.6104	10.9537	0.47345	0.1132:0.0:0.8868:0.0	.	312;315	O60858;O60858-3	TRI13_HUMAN;.	C	312;312;315;312;315	ENSP00000412943:W312C;ENSP00000367424:W312C;ENSP00000348299:W315C;ENSP00000399206:W312C;ENSP00000298772:W315C	.	W	+	3	0	TRIM13	49485013	0.128000	0.22383	0.969000	0.41365	0.837000	0.47467	0.395000	0.20850	2.711000	0.92665	0.655000	0.94253	TGG	TRIM13	-	NULL		0.398	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TRIM13	HGNC	protein_coding	OTTHUMT00000354875.1	G	NM_001007278		50587012	+1	no_errors	ENST00000298772	ensembl	human	known	70_37	missense	SNP	0.999	T
TSPAN1	10103	genome.wustl.edu	37	1	46651335	46651335	+	3'UTR	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:46651335C>G	ENST00000372003.1	+	0	1320					NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1						cell migration (GO:0016477)|cell proliferation (GO:0008283)|positive regulation of endocytosis (GO:0045807)|protein stabilization (GO:0050821)|thiamine transmembrane transport (GO:0071934)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	thiamine uptake transmembrane transporter activity (GO:0015403)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				CCTGCCCTTTCTGCTCCAGAC	0.567																																																	0																																										SO:0001624	3_prime_UTR_variant	10103			BC013404	CCDS530.1	1p33	2013-02-14			ENSG00000117472	ENSG00000117472		"""Tetraspanins"""	20657	protein-coding gene	gene with protein product		613170				9714763, 10719184	Standard	NM_005727		Approved	TSPAN-1, NET-1	uc001cpd.3	O60635	OTTHUMG00000007602	ENST00000372003.1:c.*130C>G	1.37:g.46651335C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQ14|O60745|Q5VST0	RNA	SNP	-	NULL	ENST00000372003.1	37	NULL	CCDS530.1	1																																																																																			TSPAN1	-	-		0.567	TSPAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN1	HGNC	protein_coding	OTTHUMT00000020135.1	C	NM_005727		46651335	+1	no_errors	ENST00000470318	ensembl	human	known	70_37	rna	SNP	0.028	G
TYROBP	7305	genome.wustl.edu	37	19	36395531	36395531	+	Silent	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:36395531G>C	ENST00000262629.4	-	5	348	c.282C>G	c.(280-282)ctC>ctG	p.L94L	NFKBID_ENST00000606253.1_5'Flank|TYROBP_ENST00000424586.3_Silent_p.L82L|NFKBID_ENST00000352614.2_5'Flank|TYROBP_ENST00000585901.2_Silent_p.L125L|TYROBP_ENST00000589517.1_Silent_p.L93L|TYROBP_ENST00000544690.2_Silent_p.L83L	NM_003332.3|NM_198125.2	NP_003323.1|NP_937758.1	O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	94	ITAM.				axon guidance (GO:0007411)|cellular defense response (GO:0006968)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|regulation of immune response (GO:0050776)|regulation of osteoclast development (GO:2001204)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTGACCCTGGAGCTCCTAAA	0.542																																																	0													76.0	68.0	71.0					19																	36395531		2203	4300	6503	SO:0001819	synonymous_variant	7305			AF019563	CCDS12482.1, CCDS46058.1, CCDS54255.1, CCDS59378.1	19q13.1	2014-09-17				ENSG00000011600			12449	protein-coding gene	gene with protein product	"""killer activating receptor associated protein"", ""DNAX-activation protein 12"""	604142		PLOSL		9490415, 10888890	Standard	NM_003332		Approved	DAP12, PLO-SL, KARAP	uc002ocm.3	O43914		ENST00000262629.4:c.282C>G	19.37:g.36395531G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2X0|F5H389|Q6FGA5|Q9UMT3	Silent	SNP	NULL	p.L94	ENST00000262629.4	37	c.282	CCDS12482.1	19																																																																																			TYROBP	-	NULL		0.542	TYROBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TYROBP	HGNC	protein_coding	OTTHUMT00000457397.1	G			36395531	-1	no_errors	ENST00000262629	ensembl	human	known	70_37	silent	SNP	1.000	C
UBE2Q1	55585	genome.wustl.edu	37	1	154527964	154527964	+	Silent	SNP	G	G	A	rs371981564		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:154527964G>A	ENST00000292211.4	-	3	556	c.477C>T	c.(475-477)ctC>ctT	p.L159L	UBE2Q1_ENST00000497453.1_5'UTR|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	159					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGAGGTTATAGAGTTTACACA	0.532																																																	0													155.0	148.0	150.0					1																	154527964		2203	4300	6503	SO:0001819	synonymous_variant	55585			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.477C>T	1.37:g.154527964G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L159	ENST00000292211.4	37	c.477	CCDS1069.1	1																																																																																			UBE2Q1	-	NULL		0.532	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	HGNC	protein_coding	OTTHUMT00000090704.1	G	NM_017582		154527964	-1	no_errors	ENST00000292211	ensembl	human	known	70_37	silent	SNP	1.000	A
UBE3C	9690	genome.wustl.edu	37	7	156976679	156976679	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr7:156976679G>A	ENST00000348165.5	+	9	1459	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N	UBE3C_ENST00000389103.4_Missense_Mutation_p.D324N	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	367					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CTCAGCCAGTGACTCTGAGGA	0.622																																																	0													97.0	108.0	104.0					7																	156976679		2203	4300	6503	SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1099G>A	7.37:g.156976679G>A	ENSP00000309198:p.Asp367Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.D367N	ENST00000348165.5	37	c.1099	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698109	0.88830	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.53423	0.62	5.13	4.24	0.50183	.	0.248295	0.46145	D	0.000311	T	0.60534	0.2276	L	0.60455	1.87	0.58432	D	0.999999	B;D;D	0.71674	0.22;0.979;0.998	B;P;P	0.62740	0.102;0.789;0.906	T	0.60100	-0.7329	10	0.41790	T	0.15	-20.9765	13.9951	0.64392	0.0743:0.0:0.9257:0.0	.	367;367;324	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	N	367;324	ENSP00000309198:D367N	ENSP00000309198:D367N	D	+	1	0	UBE3C	156669440	1.000000	0.71417	0.984000	0.44739	0.823000	0.46562	6.233000	0.72320	2.388000	0.81334	0.591000	0.81541	GAC	UBE3C	-	NULL		0.622	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	G	NM_014671		156976679	+1	no_errors	ENST00000348165	ensembl	human	known	70_37	missense	SNP	1.000	A
UHRF1BP1L	23074	genome.wustl.edu	37	12	100452656	100452656	+	Missense_Mutation	SNP	G	G	A	rs373719344		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr12:100452656G>A	ENST00000279907.7	-	14	2611	c.2399C>T	c.(2398-2400)tCg>tTg	p.S800L	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S450L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	800										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGCCTCTGACGAGGAAGGGGA	0.398																																																	0								G	LEU/SER	0,4406		0,0,2203	77.0	75.0	76.0		2399	6.0	0.0	12		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	UHRF1BP1L	NM_015054.1	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	800/1465	100452656	1,13005	2203	4300	6503	SO:0001583	missense	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2399C>T	12.37:g.100452656G>A	ENSP00000279907:p.Ser800Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	NULL	p.S800L	ENST00000279907.7	37	c.2399	CCDS31882.1	12	.	.	.	.	.	.	.	.	.	.	G	5.214	0.225002	0.09916	0.0	1.16E-4	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.19105	2.17;2.17	6.02	6.02	0.97574	.	0.467861	0.25506	N	0.030207	T	0.21103	0.0508	M	0.62723	1.935	0.48511	D	0.999668	P	0.49090	0.919	B	0.32928	0.155	T	0.05954	-1.0854	10	0.72032	D	0.01	-5.6712	15.2754	0.73737	0.0:0.0:0.8599:0.1401	.	800	A0JNW5	UH1BL_HUMAN	L	800;450	ENSP00000279907:S800L;ENSP00000444824:S450L	ENSP00000279907:S800L	S	-	2	0	UHRF1BP1L	98976787	0.997000	0.39634	0.015000	0.15790	0.035000	0.12851	5.036000	0.64164	2.857000	0.98124	0.650000	0.86243	TCG	UHRF1BP1L	-	NULL		0.398	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1	G	NM_001006947		100452656	-1	no_errors	ENST00000279907	ensembl	human	known	70_37	missense	SNP	0.026	A
UNG	7374	genome.wustl.edu	37	12	109539758	109539758	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr12:109539758C>T	ENST00000242576.2	+	4	593	c.487C>T	c.(487-489)Cac>Tac	p.H163Y	UNG_ENST00000336865.2_Missense_Mutation_p.H154Y	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TAATCAAGCTCACGGGCTCTG	0.488								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																																								0													143.0	106.0	119.0					12																	109539758		2203	4300	6503	SO:0001583	missense	7374	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"""uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"""	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.487C>T	12.37:g.109539758C>T	ENSP00000242576:p.His163Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse	p.H163Y	ENST00000242576.2	37	c.487	CCDS9124.1	12	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745078	0.89663	.	.	ENSG00000076248	ENST00000242576;ENST00000336865;ENST00000537518	T;T	0.55052	0.54;0.54	5.12	5.12	0.69794	Uracil-DNA glycosylase-like (3);	0.000000	0.85682	D	0.000000	D	0.82806	0.5117	H	0.97587	4.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88987	0.3412	10	0.72032	D	0.01	-23.7365	17.9284	0.88990	0.0:1.0:0.0:0.0	.	154;163	E5KTA6;P13051	.;UNG_HUMAN	Y	163;154;120	ENSP00000242576:H163Y;ENSP00000337398:H154Y	ENSP00000242576:H163Y	H	+	1	0	UNG	108024141	1.000000	0.71417	0.988000	0.46212	0.946000	0.59487	7.237000	0.78164	2.557000	0.86248	0.555000	0.69702	CAC	UNG	-	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse		0.488	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNG	HGNC	protein_coding	OTTHUMT00000403067.1	C	NM_080911		109539758	+1	no_errors	ENST00000242576	ensembl	human	known	70_37	missense	SNP	1.000	T
URM1	81605	genome.wustl.edu	37	9	131151899	131151899	+	3'UTR	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr9:131151899G>A	ENST00000372850.1	+	0	1931				URM1_ENST00000372853.4_Intron|MIR219-2_ENST00000385220.1_lincRNA|RP11-339B21.11_ENST00000609303.1_lincRNA|URM1_ENST00000483206.1_3'UTR|URM1_ENST00000452446.1_3'UTR					ubiquitin related modifier 1											cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						GGTGGACCTGGGAAGGTGGCC	0.597																																																	0													28.0	27.0	27.0					9																	131151899		2202	4300	6502	SO:0001624	3_prime_UTR_variant	81605			AK097029	CCDS6900.1, CCDS48035.1, CCDS59148.1	9q34.13	2010-06-24	2010-06-24	2006-11-28	ENSG00000167118	ENSG00000167118			28378	protein-coding gene	gene with protein product		612693	"""chromosome 9 open reading frame 74"", ""ubiquitin related modifier 1 homolog (S. cerevisiae)"""	C9orf74		16046629, 16864801	Standard	NM_030914		Approved	MGC2668	uc011may.2	Q9BTM9	OTTHUMG00000020742	ENST00000372850.1:c.*1719G>A	9.37:g.131151899G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000372850.1	37	NULL	CCDS59148.1	9																																																																																			URM1	-	-		0.597	URM1-002	KNOWN	basic|CCDS	protein_coding	URM1	HGNC	protein_coding	OTTHUMT00000054423.1	G	NM_030914		131151899	+1	no_errors	ENST00000483206	ensembl	human	known	70_37	rna	SNP	0.001	A
USP29	57663	genome.wustl.edu	37	19	57641688	57641688	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:57641688C>T	ENST00000254181.4	+	4	2099	c.1645C>T	c.(1645-1647)Ctt>Ttt	p.L549F	USP29_ENST00000598197.1_Missense_Mutation_p.L549F	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	549	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAACCACCTCTTCCCTTGAG	0.413																																																	0													138.0	148.0	145.0					19																	57641688		2203	4300	6503	SO:0001583	missense	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1645C>T	19.37:g.57641688C>T	ENSP00000254181:p.Leu549Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.L549F	ENST00000254181.4	37	c.1645	CCDS33124.1	19	.	.	.	.	.	.	.	.	.	.	C	0.190	-1.054505	0.01965	.	.	ENSG00000131864	ENST00000254181	T	0.76186	-1.0	2.52	0.351	0.16042	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.562652	0.14030	N	0.346212	T	0.57504	0.2058	L	0.46741	1.465	0.21499	N	0.99967	B	0.33171	0.4	B	0.30251	0.113	T	0.40001	-0.9586	10	0.12430	T	0.62	-7.2363	4.7806	0.13201	0.0:0.4941:0.0:0.5059	.	549	Q9HBJ7	UBP29_HUMAN	F	549	ENSP00000254181:L549F	ENSP00000254181:L549F	L	+	1	0	USP29	62333500	0.119000	0.22226	0.041000	0.18516	0.145000	0.21501	0.101000	0.15251	0.119000	0.18210	0.467000	0.42956	CTT	USP29	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.413	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	HGNC	protein_coding	OTTHUMT00000465075.1	C			57641688	+1	no_errors	ENST00000254181	ensembl	human	known	70_37	missense	SNP	0.891	T
USP53	54532	genome.wustl.edu	37	4	120169975	120169975	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr4:120169975G>A	ENST00000274030.6	+	7	1489	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	USP53_ENST00000450251.1_Missense_Mutation_p.E104K	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TGCTCTTGCAGAAAGTTTCAA	0.413																																																	0													209.0	184.0	192.0					4																	120169975		1917	4130	6047	SO:0001583	missense	54532			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.310G>A	4.37:g.120169975G>A	ENSP00000274030:p.Glu104Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E104K	ENST00000274030.6	37	c.310	CCDS43265.1	4	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534765	0.27475	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.27402	1.67;1.67	6.16	6.16	0.99307	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.097167	0.64402	D	0.000002	T	0.26085	0.0636	N	0.12637	0.245	0.46113	D	0.998875	P	0.50710	0.938	P	0.54706	0.759	T	0.03315	-1.1049	10	0.05721	T	0.95	-33.2582	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	104	Q70EK8	UBP53_HUMAN	K	104	ENSP00000274030:E104K;ENSP00000409906:E104K	ENSP00000274030:E104K	E	+	1	0	USP53	120389423	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.745000	0.98856	2.937000	0.99478	0.650000	0.86243	GAA	USP53	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.413	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP53	HGNC	protein_coding	OTTHUMT00000364564.2	G	XM_052597		120169975	+1	no_errors	ENST00000274030	ensembl	human	known	70_37	missense	SNP	1.000	A
VPS53	55275	genome.wustl.edu	37	17	465783	465783	+	Nonsense_Mutation	SNP	G	G	A	rs200594402		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:465783G>A	ENST00000571805.1	-	14	1652	c.1516C>T	c.(1516-1518)Cga>Tga	p.R506*	VPS53_ENST00000446250.2_Nonsense_Mutation_p.R308*|VPS53_ENST00000437048.2_Nonsense_Mutation_p.R506*|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Nonsense_Mutation_p.R229*|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000291074.5_Nonsense_Mutation_p.R477*			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	506					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)		p.R477*(1)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCGTATTCTCGGAGGTACTTC	0.488																																																	1	Substitution - Nonsense(1)	large_intestine(1)											83.0	78.0	80.0					17																	465783		2203	4300	6503	SO:0001587	stop_gained	55275				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1516C>T	17.37:g.465783G>A	ENSP00000459312:p.Arg506*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Nonsense_Mutation	SNP	pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54	p.R506*	ENST00000571805.1	37	c.1516		17	.	.	.	.	.	.	.	.	.	.	G	47	13.270170	0.99731	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000401468;ENST00000389040	.	.	.	6.07	6.07	0.98685	.	0.051316	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.916	19.6321	0.95713	0.0:0.0:1.0:0.0	.	.	.	.	X	506;308;477;229;458	.	ENSP00000291074:R477X	R	-	1	2	VPS53	412533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.011000	0.70760	2.884000	0.98904	0.655000	0.94253	CGA	VPS53	-	NULL		0.488	VPS53-006	KNOWN	basic	protein_coding	VPS53	HGNC	protein_coding	OTTHUMT00000436940.2	G	NM_018289		465783	-1	no_errors	ENST00000437048	ensembl	human	known	70_37	nonsense	SNP	1.000	A
WDR1	9948	genome.wustl.edu	37	4	10083053	10083053	+	Silent	SNP	C	C	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr4:10083053C>A	ENST00000499869.2	-	11	1405	c.1212G>T	c.(1210-1212)gtG>gtT	p.V404V	WDR1_ENST00000382452.2_Silent_p.V404V|MIR3138_ENST00000585238.1_RNA|WDR1_ENST00000382451.2_Silent_p.V264V|WDR1_ENST00000502702.1_Silent_p.V264V|WDR1_ENST00000515743.1_5'UTR			O75083	WDR1_HUMAN	WD repeat domain 1	404					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CGTCCAGTTTCACAACTCCTT	0.522																																																	0													82.0	87.0	85.0					4																	10083053		2027	4187	6214	SO:0001819	synonymous_variant	9948			AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1212G>T	4.37:g.10083053C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V404	ENST00000499869.2	37	c.1212	CCDS54740.1	4																																																																																			WDR1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.522	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR1	HGNC	protein_coding	OTTHUMT00000359877.1	C			10083053	-1	no_errors	ENST00000382452	ensembl	human	known	70_37	silent	SNP	1.000	A
WDR83	84292	genome.wustl.edu	37	19	12781580	12781580	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:12781580G>A	ENST00000418543.3	+	7	800	c.451G>A	c.(451-453)Gag>Aag	p.E151K	CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83OS_ENST00000600694.1_5'UTR|WDR83OS_ENST00000222190.5_5'Flank|WDR83OS_ENST00000596731.1_5'UTR|WDR83_ENST00000242796.4_Missense_Mutation_p.E151K	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	151					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						GACGCTGGATGAGGCCAGAGA	0.602																																																	0													80.0	70.0	73.0					19																	12781580		2203	4300	6503	SO:0001583	missense	84292			AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.451G>A	19.37:g.12781580G>A	ENSP00000402653:p.Glu151Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAF1|Q53FT6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E151K	ENST00000418543.3	37	c.451	CCDS12275.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.884214|5.884214	0.97062|0.97062	.|.	.|.	ENSG00000123154|ENSG00000123154	ENST00000418543;ENST00000242796|ENST00000547797	T;T|.	0.81163|.	-1.46;-1.46|.	5.21|5.21	5.21|5.21	0.72293|0.72293	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84297|0.84297	0.5441|0.5441	M|M	0.91300|0.91300	3.195|3.195	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	P|.	0.60541|.	0.876|.	D|D	0.85275|0.85275	0.1058|0.1058	10|6	0.56958|0.36615	D|T	0.05|0.2	.|.	17.8801|17.8801	0.88838|0.88838	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	151|.	Q9BRX9|.	WDR83_HUMAN|.	K|I	151|53	ENSP00000402653:E151K;ENSP00000242796:E151K|.	ENSP00000242796:E151K|ENSP00000448331:M145I	E|M	+|+	1|3	0|0	WDR83|WDR83	12642580|12642580	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.940000|0.940000	0.58332|0.58332	8.843000|8.843000	0.92142|0.92142	2.582000|2.582000	0.87167|0.87167	0.655000|0.655000	0.94253|0.94253	GAG|ATG	WDR83	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.602	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR83	HGNC	protein_coding	OTTHUMT00000403648.1	G	NM_032332		12781580	+1	no_errors	ENST00000242796	ensembl	human	known	70_37	missense	SNP	1.000	A
WNK4	65266	genome.wustl.edu	37	17	40947491	40947491	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:40947491C>G	ENST00000246914.5	+	15	2995	c.2974C>G	c.(2974-2976)Cct>Gct	p.P992A		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	992			P -> S (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)		CTCACCACCTCCTGCTCGGCC	0.582																																					Esophageal Squamous(6;201 374 4964 23855 42828)												0													112.0	110.0	111.0					17																	40947491		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.2974C>G	17.37:g.40947491C>G	ENSP00000246914:p.Pro992Ala	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.P992A	ENST00000246914.5	37	c.2974	CCDS11439.1	17	.	.	.	.	.	.	.	.	.	.	C	2.110	-0.403937	0.04832	.	.	ENSG00000126562	ENST00000246914	T	0.73047	-0.71	5.74	2.21	0.28008	.	0.188303	0.26297	N	0.025200	T	0.49064	0.1535	N	0.24115	0.695	0.20764	N	0.999857	B;B	0.19583	0.037;0.008	B;B	0.12837	0.008;0.004	T	0.22312	-1.0220	10	0.13108	T	0.6	-1.7677	7.681	0.28513	0.0:0.5852:0.2559:0.1589	.	992;992	Q96J92-3;Q96J92	.;WNK4_HUMAN	A	992	ENSP00000246914:P992A	ENSP00000246914:P992A	P	+	1	0	WNK4	38201017	0.007000	0.16637	0.422000	0.26621	0.017000	0.09413	0.459000	0.21908	0.774000	0.33427	0.591000	0.81541	CCT	WNK4	-	NULL		0.582	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	HGNC	protein_coding	OTTHUMT00000452389.1	C			40947491	+1	no_errors	ENST00000246914	ensembl	human	known	70_37	missense	SNP	0.002	G
WWC3	55841	genome.wustl.edu	37	X	10106899	10106899	+	Missense_Mutation	SNP	C	C	T	rs150439410		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:10106899C>T	ENST00000380861.4	+	21	3398	c.3007C>T	c.(3007-3009)Cgt>Tgt	p.R1003C	WWC3_ENST00000454666.1_Missense_Mutation_p.R1003C	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1003					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGCCCAGCTCCGTGGCCAGAC	0.706																																																	0													25.0	23.0	23.0					X																	10106899		2203	4295	6498	SO:0001583	missense	55841			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.3007C>T	X.37:g.10106899C>T	ENSP00000370242:p.Arg1003Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.R1003C	ENST00000380861.4	37	c.3007	CCDS14136.1	X	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912622	0.52439	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.44881	0.91;0.91	4.8	4.8	0.61643	.	0.126422	0.51477	D	0.000081	T	0.59432	0.2193	M	0.70275	2.135	0.49483	D	0.999791	D	0.76494	0.999	D	0.64042	0.921	T	0.60306	-0.7289	9	.	.	.	-4.6092	13.0397	0.58891	0.2403:0.7597:0.0:0.0	.	1003	Q9ULE0	WWC3_HUMAN	C	1003;1003;498	ENSP00000370242:R1003C;ENSP00000399584:R1003C	.	R	+	1	0	WWC3	10066899	0.999000	0.42202	0.865000	0.33974	0.339000	0.28857	2.461000	0.45040	2.370000	0.80446	0.529000	0.55759	CGT	WWC3	-	NULL		0.706	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1	C	NM_015691		10106899	+1	no_errors	ENST00000380861	ensembl	human	known	70_37	missense	SNP	0.727	T
YIPF3	25844	genome.wustl.edu	37	6	43483678	43483678	+	Missense_Mutation	SNP	G	G	C	rs150101467		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr6:43483678G>C	ENST00000372422.2	-	2	419	c.237C>G	c.(235-237)ttC>ttG	p.F79L	POLR1C_ENST00000372344.2_5'Flank|POLR1C_ENST00000304004.3_5'Flank|POLR1C_ENST00000372389.3_5'Flank|YIPF3_ENST00000506469.1_Missense_Mutation_p.F85L	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	79					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TCATGCCCAGGAACTCTCCAT	0.542																																																	0													106.0	95.0	99.0					6																	43483678		2203	4300	6503	SO:0001583	missense	25844			AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.237C>G	6.37:g.43483678G>C	ENSP00000361499:p.Phe79Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Missense_Mutation	SNP	NULL	p.F79L	ENST00000372422.2	37	c.237	CCDS4899.1	6	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833915	0.91036	.	.	ENSG00000137207	ENST00000372422;ENST00000504851;ENST00000506469;ENST00000503972;ENST00000511831	T;T;T	0.44482	0.93;0.93;0.92	5.7	4.82	0.62117	.	0.099730	0.64402	D	0.000001	T	0.48390	0.1497	L	0.60455	1.87	0.80722	D	1	B;D;B	0.56035	0.0;0.974;0.0	B;D;B	0.70487	0.004;0.969;0.001	T	0.52275	-0.8597	10	0.54805	T	0.06	-23.0858	12.1095	0.53831	0.0806:0.0:0.9194:0.0	.	79;85;79	D6RED8;E7EQR8;Q9GZM5	.;.;YIPF3_HUMAN	L	79;79;85;79;44	ENSP00000361499:F79L;ENSP00000425494:F85L;ENSP00000421461:F79L	ENSP00000259737:F79L	F	-	3	2	YIPF3	43591656	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.102000	0.57776	1.380000	0.46344	0.460000	0.39030	TTC	YIPF3	-	NULL		0.542	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF3	HGNC	protein_coding	OTTHUMT00000040639.2	G	NM_015388		43483678	-1	no_errors	ENST00000372422	ensembl	human	known	70_37	missense	SNP	1.000	C
YY1	7528	genome.wustl.edu	37	14	100728666	100728666	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr14:100728666G>C	ENST00000262238.4	+	2	965	c.705G>C	c.(703-705)gaG>gaC	p.E235D	RP11-638I2.2_ENST00000555212.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	235					anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				TTGACCATGAGACAGTGGTTG	0.353																																																	0													72.0	73.0	73.0					14																	100728666		2203	4300	6503	SO:0001583	missense	7528			BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.705G>C	14.37:g.100728666G>C	ENSP00000262238:p.Glu235Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14935	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.E235D	ENST00000262238.4	37	c.705	CCDS9957.1	14	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	13.24|13.24|13.24	2.177651|2.177651|2.177651	0.38413|0.38413|0.38413	.|.|.	.|.|.	ENSG00000100811|ENSG00000100811|ENSG00000100811	ENST00000553625|ENST00000262238|ENST00000554804	.|T|.	.|0.11169|.	.|2.8|.	5.7|5.7|5.7	3.48|3.48|3.48	0.39840|0.39840|0.39840	.|.|.	.|0.065124|.	.|0.64402|.	.|U|.	.|0.000011|.	T|T|T	0.36663|0.36663|0.36663	0.0975|0.0975|0.0975	N|N|N	0.16862|0.16862|0.16862	0.45|0.45|0.45	0.43574|0.43574|0.43574	D|D|D	0.995902|0.995902|0.995902	.|B|.	.|0.09022|.	.|0.002|.	.|B|.	.|0.11329|.	.|0.006|.	T|T|T	0.10428|0.10428|0.10428	-1.0630|-1.0630|-1.0630	5|10|5	.|0.30078|.	.|T|.	.|0.28|.	.|.|.	6.6685|6.6685|6.6685	0.23056|0.23056|0.23056	0.3601:0.0:0.6399:0.0|0.3601:0.0:0.6399:0.0|0.3601:0.0:0.6399:0.0	.|.|.	.|235|.	.|P25490|.	.|TYY1_HUMAN|.	H|D|T	66|235|64	.|ENSP00000262238:E235D|.	.|ENSP00000262238:E235D|.	D|E|R	+|+|+	1|3|2	0|2|0	YY1|YY1|YY1	99798419|99798419|99798419	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.915000|0.915000|0.915000	0.54546|0.54546|0.54546	1.649000|1.649000|1.649000	0.37281|0.37281|0.37281	1.535000|1.535000|1.535000	0.49220|0.49220|0.49220	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	GAC|GAG|AGA	YY1	-	pirsf_TF_Yin_yang		0.353	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY1	HGNC	protein_coding	OTTHUMT00000318277.1	G	NM_003403		100728666	+1	no_errors	ENST00000262238	ensembl	human	known	70_37	missense	SNP	1.000	C
ZAK	51776	genome.wustl.edu	37	2	174123523	174123523	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr2:174123523G>A	ENST00000375213.3	+	17	1534	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.E486K	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		486					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										ACCTGATGCGGAGATTTTAAA	0.368																																																	0													99.0	96.0	97.0					2																	174123523		1854	4095	5949	SO:0001583	missense	51776																														ENST00000375213.3:c.1456G>A	2.37:g.174123523G>A	ENSP00000364361:p.Glu486Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E486K	ENST00000375213.3	37	c.1456	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.093992	0.94149	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.77358	-1.09;-1.09	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	P	0.58266	0.836	T	0.82335	-0.0508	10	0.59425	D	0.04	.	19.1938	0.93679	0.0:0.0:1.0:0.0	.	486	Q9NYL2	MLTK_HUMAN	K	486	ENSP00000387259:E486K;ENSP00000364361:E486K	ENSP00000364361:E486K	E	+	1	0	AC013461.1	173831769	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.388000	0.97237	2.601000	0.87937	0.585000	0.79938	GAG	MLTK	-	NULL		0.368	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Uniprot_genename	protein_coding	OTTHUMT00000255401.1	G			174123523	+1	no_errors	ENST00000375213	ensembl	human	known	70_37	missense	SNP	1.000	A
ZFHX4	79776	genome.wustl.edu	37	8	77763459	77763459	+	Silent	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr8:77763459C>T	ENST00000521891.2	+	10	4750	c.4302C>T	c.(4300-4302)ttC>ttT	p.F1434F	ZFHX4_ENST00000455469.2_Silent_p.F1389F|ZFHX4_ENST00000518282.1_Silent_p.F1408F|ZFHX4_ENST00000050961.6_Silent_p.F1389F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCGCAGTTTCCGTACATTCC	0.468										HNSCC(33;0.089)																																							0													44.0	41.0	42.0					8																	77763459		1935	4147	6082	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4302C>T	8.37:g.77763459C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	G3V138|Q18PS0|Q6ZN20	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.F1434	ENST00000521891.2	37	c.4302	CCDS47878.2	8																																																																																			ZFHX4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	C	NM_024721		77763459	+1	no_errors	ENST00000521891	ensembl	human	known	70_37	silent	SNP	1.000	T
ZFP82	284406	genome.wustl.edu	37	19	36884445	36884445	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:36884445C>T	ENST00000392161.3	-	5	1039	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	ZFP82_ENST00000392171.1_Missense_Mutation_p.R266Q	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	266					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(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAGTTGTCCTCGTACCCTAAA	0.433																																																	0													153.0	153.0	153.0					19																	36884445		2203	4300	6503	SO:0001583	missense	284406			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.797G>A	19.37:g.36884445C>T	ENSP00000431265:p.Arg266Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC63|Q8TF53	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.R266Q	ENST00000392161.3	37	c.797	CCDS12493.1	19	.	.	.	.	.	.	.	.	.	.	C	3.968	-0.009019	0.07727	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.08008	3.14;3.14	4.47	3.38	0.38709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37136	N	0.002235	T	0.03220	0.0094	N	0.11023	0.085	0.09310	N	1	B	0.25351	0.124	B	0.09377	0.004	T	0.36480	-0.9746	10	0.29301	T	0.29	.	2.2876	0.04130	0.1995:0.4964:0.1921:0.1121	.	266	Q8N141	ZFP82_HUMAN	Q	266	ENSP00000431265:R266Q;ENSP00000446080:R266Q	ENSP00000431265:R266Q	R	-	2	0	ZFP82	41576285	0.000000	0.05858	0.948000	0.38648	0.992000	0.81027	-0.421000	0.07053	2.319000	0.78375	0.655000	0.94253	CGA	ZFP82	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFP82	HGNC	protein_coding	OTTHUMT00000109552.2	C	NM_133466		36884445	-1	no_errors	ENST00000392161	ensembl	human	known	70_37	missense	SNP	0.000	T
ZIM2	23619	genome.wustl.edu	37	19	57293432	57293432	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:57293432C>T	ENST00000391708.3	-	10	1077	c.535G>A	c.(535-537)Gag>Aag	p.E179K	AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.E179K|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.E179K|ZIM2_ENST00000601070.1_Missense_Mutation_p.E179K|ZIM2_ENST00000221722.5_Missense_Mutation_p.E179K	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	179	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)	p.E179Q(1)		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)		AGCACATCCTCGAAGGTCACC	0.498																																																	1	Substitution - Missense(1)	lung(1)											174.0	152.0	159.0					19																	57293432		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.535G>A	19.37:g.57293432C>T	ENSP00000375589:p.Glu179Lys	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.E179K	ENST00000391708.3	37	c.535	CCDS33123.1	19	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.355648	0.01256	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.01685	4.69;4.69	5.21	-10.4	0.00318	Krueppel-associated box (4);	.	.	.	.	T	0.00967	0.0032	N	0.11673	0.155	.	.	.	B	0.15473	0.013	B	0.08055	0.003	T	0.46871	-0.9160	8	0.02654	T	1	.	16.5244	0.84327	0.0:0.5825:0.3201:0.0975	.	179	Q9NZV7	ZIM2_HUMAN	K	179	ENSP00000375589:E179K;ENSP00000221722:E179K	ENSP00000221722:E179K	E	-	1	0	ZIM2	61985244	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.888000	0.01616	-3.865000	0.00097	-0.982000	0.02568	GAG	ZIM2	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.498	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM2	HGNC	protein_coding	OTTHUMT00000416094.2	C			57293432	-1	no_errors	ENST00000221722	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF687	57592	genome.wustl.edu	37	1	151259572	151259572	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:151259572C>T	ENST00000368879.2	+	2	903	c.805C>T	c.(805-807)Cac>Tac	p.H269Y		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	269	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTCTCCAGGGCACCAGAGCCC	0.617																																																	0													56.0	60.0	58.0					1																	151259572		2203	4300	6503	SO:0001583	missense	57592				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.805C>T	1.37:g.151259572C>T	ENSP00000357874:p.His269Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H269Y	ENST00000368879.2	37	c.805		1	.	.	.	.	.	.	.	.	.	.	C	2.117	-0.402286	0.04865	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00816	5.66;5.66;6.0	4.57	4.57	0.56435	.	0.503571	0.14882	N	0.292904	T	0.00496	0.0016	L	0.27053	0.805	0.31967	N	0.607666	P;P;P	0.46912	0.886;0.666;0.886	B;B;P	0.47251	0.359;0.139;0.542	T	0.60606	-0.7230	9	.	.	.	-12.6878	5.7318	0.18045	0.195:0.7075:0.0:0.0974	.	269;269;269	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	Y	269	ENSP00000336620:H269Y;ENSP00000319829:H269Y;ENSP00000357874:H269Y	.	H	+	1	0	ZNF687	149526196	0.193000	0.23313	0.995000	0.50966	0.224000	0.24922	1.909000	0.39917	2.385000	0.81259	0.462000	0.41574	CAC	ZNF687	-	NULL		0.617	ZNF687-201	KNOWN	basic	protein_coding	ZNF687	HGNC	protein_coding		C	NM_020832		151259572	+1	no_errors	ENST00000324048	ensembl	human	known	70_37	missense	SNP	0.993	T
