#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADAMTS15	170689	genome.wustl.edu	37	11	130343335	130343335	+	Silent	SNP	C	C	T			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr11:130343335C>T	ENST00000299164.2	+	8	2472	c.2472C>T	c.(2470-2472)agC>agT	p.S824S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	824	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TGCACAACAGCGTCCTCAGCC	0.682																																						dbGAP											0													77.0	90.0	86.0					11																	130343335		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2472C>T	11.37:g.130343335C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MI6	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8	p.S824	ENST00000299164.2	37	c.2472	CCDS8488.1	11																																																																																			ADAMTS15	-	NULL	ENSG00000166106		0.682	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS15	HGNC	protein_coding	OTTHUMT00000385638.1	28	0.00	0	C	NM_139055		130343335	130343335	+1	no_errors	ENST00000299164	ensembl	human	known	69_37n	silent	16	30.43	7	SNP	0.920	T
ARID1A	8289	genome.wustl.edu	37	1	27094455	27094456	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	TA	TA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr1:27094455_27094456delTA	ENST00000324856.7	+	11	3534_3535	c.3163_3164delTA	c.(3163-3165)tatfs	p.Y1055fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Y1055fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Y672fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1055	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTATCGCCTCTATGTGTCTGTG	0.54			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	dbGAP		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0																																										-	-	-	SO:0001589	frameshift_variant	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3163_3164delTA	1.37:g.27094455_27094456delTA	ENSP00000320485:p.Tyr1055fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Y1055fs	ENST00000324856.7	37	c.3163_3164	CCDS285.1	1																																																																																			ARID1A	-	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	ENSG00000117713		0.540	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	123	0.00	0	TA	NM_139135		27094455	27094456	+1	no_errors	ENST00000324856	ensembl	human	known	69_37n	frame_shift_del	101	29.86	43	DEL	1.000:1.000	-
LRRC75A	388341	genome.wustl.edu	37	17	16344474	16344475	+	IGR	INS	-	-	T			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr17:16344474_16344475insT	ENST00000409083.3	-	0	2656				C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000475953.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA	NM_207387.3	NP_997270.2														lung(1)	1						ATGATCCCTTCAACCCCATAGT	0.431																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															17.37:g.16344474_16344475insT		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	INS	-	NULL	ENST00000409083.3	37	NULL	CCDS11178.2	17																																																																																			C17orf76-AS1	-	-	ENSG00000175061		0.431	FAM211A-001	NOVEL	basic|exp_conf|CCDS	protein_coding	C17orf76-AS1	HGNC	protein_coding	OTTHUMT00000130461.2	84	0.00	0	-			16344474	16344475	+1	no_errors	ENST00000460249	ensembl	human	known	69_37n	rna	70	32.04	33	INS	0.000:0.000	T
CADPS	8618	genome.wustl.edu	37	3	62578366	62578366	+	Silent	SNP	C	C	T			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr3:62578366C>T	ENST00000383710.4	-	7	1732	c.1383G>A	c.(1381-1383)aaG>aaA	p.K461K	CADPS_ENST00000357948.3_Silent_p.K461K|CADPS_ENST00000283269.9_Silent_p.K461K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	461	C2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTGTGAACAGCTTCACCTTCA	0.542																																						dbGAP											0													148.0	129.0	136.0					3																	62578366		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1383G>A	3.37:g.62578366C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K461	ENST00000383710.4	37	c.1383	CCDS46858.1	3																																																																																			CADPS	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000163618		0.542	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	220	0.00	0	C	NM_003716, NM_183393, NM_183394		62578366	62578366	-1	no_errors	ENST00000383710	ensembl	human	known	69_37n	silent	90	31.82	42	SNP	1.000	T
CCDC108	255101	genome.wustl.edu	37	2	219892686	219892687	+	Frame_Shift_Ins	INS	-	-	G	rs532323836		TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr2:219892686_219892687insG	ENST00000341552.5	-	13	1979_1980	c.1896_1897insC	c.(1894-1899)cccatgfs	p.M633fs	CCDC108_ENST00000409865.3_Frame_Shift_Ins_p.M622fs|CCDC108_ENST00000410037.1_Frame_Shift_Ins_p.M568fs|CCDC108_ENST00000453220.1_Frame_Shift_Ins_p.M633fs|CCDC108_ENST00000441968.1_Frame_Shift_Ins_p.M633fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	633						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACTCGGTCATGGGGGGGATAT	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1897dupC	2.37:g.219892693_219892693dupG	ENSP00000340776:p.Met633fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Ins	INS	superfamily_PapD-like,pfscan_Major_sperm	p.M632fs	ENST00000341552.5	37	c.1897_1896	CCDS2430.2	2																																																																																			CCDC108	-	NULL	ENSG00000181378		0.599	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	48	0.00	0	-	NM_194302		219892686	219892687	-1	no_errors	ENST00000341552	ensembl	human	known	69_37n	frame_shift_ins	26	13.33	4	INS	1.000:1.000	G
CCNL2	81669	genome.wustl.edu	37	1	1325651	1325652	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr1:1325651_1325652insG	ENST00000400809.3	-	8	969_970	c.964_965insC	c.(964-966)gtgfs	p.V322fs	CCNL2_ENST00000408952.5_Frame_Shift_Ins_p.V100fs|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	322					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		ACCATCCAGCACCTGTGTGCCC	0.579																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.964_965insC	1.37:g.1325651_1325652insG	ENSP00000383611:p.Val322fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Frame_Shift_Ins	INS	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.V322fs	ENST00000400809.3	37	c.965_964	CCDS30557.1	1																																																																																			CCNL2	-	pirsf_Cyclin_L	ENSG00000221978		0.579	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL2	HGNC	protein_coding	OTTHUMT00000008146.2	54	0.00	0	-	NM_030937		1325651	1325652	-1	no_errors	ENST00000400809	ensembl	human	known	69_37n	frame_shift_ins	58	38.95	37	INS	0.000:0.000	G
CCR10	2826	genome.wustl.edu	37	17	40832609	40832609	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr17:40832609delA	ENST00000332438.4	-	2	70	c.51delT	c.(49-51)gatfs	p.D17fs	CTD-3193K9.3_ENST00000592440.1_RNA|CCR10_ENST00000591765.1_5'UTR|CNTNAP1_ENST00000264638.4_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	17					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CGTCCTCTTCATCCCCAGAGT	0.597																																						dbGAP											0													39.0	36.0	37.0					17																	40832609		2169	4255	6424	-	-	-	SO:0001589	frameshift_variant	0			AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"""GPCR / Class A : Chemokine receptors : C-C motif"""	4474	protein-coding gene	gene with protein product		600240	"""G protein-coupled receptor 2"""	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.51delT	17.37:g.40832609delA	ENSP00000332504:p.Asp17fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4V749|Q6T7X2|Q9NZG2	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR10,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.D17fs	ENST00000332438.4	37	c.51	CCDS11435.1	17																																																																																			CCR10	-	prints_Chemokine_CCR10	ENSG00000184451		0.597	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR10	HGNC	protein_coding	OTTHUMT00000255406.1	17	0.00	0	A	NM_016602		40832609	40832609	-1	no_errors	ENST00000332438	ensembl	human	known	69_37n	frame_shift_del	3	93.33	56	DEL	0.000	-
CRTC2	200186	genome.wustl.edu	37	1	153927365	153927365	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr1:153927365C>T	ENST00000368633.1	-	3	483	c.356G>A	c.(355-357)cGc>cAc	p.R119H	CRTC2_ENST00000368630.3_Intron|CRTC2_ENST00000476883.1_5'UTR	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	119					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGTGTATCGGCGAAGTGGGGA	0.567																																						dbGAP											0													61.0	52.0	55.0					1																	153927365		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.356G>A	1.37:g.153927365C>T	ENSP00000357622:p.Arg119His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	NULL	p.R119H	ENST00000368633.1	37	c.356	CCDS30875.1	1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479458	0.63849	.	.	ENSG00000160741	ENST00000368633	T	0.15603	2.41	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000001	T	0.05090	0.0136	N	0.19112	0.55	0.42441	D	0.992711	B	0.11235	0.004	B	0.04013	0.001	T	0.23226	-1.0194	10	0.26408	T	0.33	-6.853	13.3523	0.60609	0.0:1.0:0.0:0.0	.	119	Q53ET0	CRTC2_HUMAN	H	119	ENSP00000357622:R119H	ENSP00000357622:R119H	R	-	2	0	CRTC2	152193989	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.597000	0.74118	2.533000	0.85409	0.305000	0.20034	CGC	CRTC2	-	NULL	ENSG00000160741		0.567	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC2	HGNC	protein_coding	OTTHUMT00000090272.3	72	0.00	0	C	NM_181715		153927365	153927365	-1	no_errors	ENST00000368633	ensembl	human	known	69_37n	missense	59	27.71	23	SNP	1.000	T
DHX32	55760	genome.wustl.edu	37	10	127529507	127529509	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	CCA	CCA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr10:127529507_127529509delCCA	ENST00000284690.3	-	8	2090_2092	c.1600_1602delTGG	c.(1600-1602)tggdel	p.W534del	BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000284688.6_In_Frame_Del_p.W453del|AL360176.1_ENST00000401153.1_RNA|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_In_Frame_Del_p.W158del	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	534						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAAATGTCTTCCAACAAGTCAAG	0.409																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1600_1602delTGG	10.37:g.127529507_127529509delCCA	ENSP00000284690:p.Trp534del	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	In_Frame_Del	DEL	pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.W534in_frame_del	ENST00000284690.3	37	c.1602_1600	CCDS7652.1	10																																																																																			DHX32	-	pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom	ENSG00000089876		0.409	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	HGNC	protein_coding	OTTHUMT00000050945.2	114	0.00	0	CCA	NM_018180		127529507	127529509	-1	no_errors	ENST00000284690	ensembl	human	known	69_37n	in_frame_del	125	18.99	30	DEL	0.612:0.621:0.423	-
DOCK8	81704	genome.wustl.edu	37	9	377063	377063	+	Silent	SNP	C	C	T			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr9:377063C>T	ENST00000453981.1	+	20	2404	c.2292C>T	c.(2290-2292)atC>atT	p.I764I	DOCK8_ENST00000469391.1_Silent_p.I696I|DOCK8_ENST00000382329.1_Silent_p.I231I|DOCK8_ENST00000432829.2_Silent_p.I696I|DOCK8_ENST00000382331.1_Silent_p.I66I			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	764					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATCAGAAAATCAGCGAGATGG	0.597																																						dbGAP											0													71.0	49.0	57.0					9																	377063		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2292C>T	9.37:g.377063C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold	p.I764	ENST00000453981.1	37	c.2292	CCDS6440.2	9																																																																																			DOCK8	-	NULL	ENSG00000107099		0.597	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	29	0.00	0	C	XM_036307		377063	377063	+1	no_errors	ENST00000453981	ensembl	human	known	69_37n	silent	51	17.74	11	SNP	1.000	T
FRG1B	284802	genome.wustl.edu	37	20	29612263	29612263	+	Intron	SNP	G	G	A	rs77399069		TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr20:29612263G>A	ENST00000278882.3	+	1	257				FRG1B_ENST00000439954.2_Intron|FRG1B_ENST00000468180.2_Intron|FRG1B_ENST00000358464.4_Intron			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCCGGACCGCGGTTCCTGGCG	0.687																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-124+150G>A	20.37:g.29612263G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C4AME5	RNA	SNP	-	NULL	ENST00000278882.3	37	NULL		20																																																																																			FRG1B	-	-	ENSG00000149531		0.687	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	8	0.00	0	G	NR_003579		29612263	29612263	+1	no_errors	ENST00000482423	ensembl	human	known	69_37n	rna	1	80.00	4	SNP	0.000	A
FRY	10129	genome.wustl.edu	37	13	32783135	32783135	+	Silent	SNP	C	C	G			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr13:32783135C>G	ENST00000380250.3	+	32	4660	c.4164C>G	c.(4162-4164)gtC>gtG	p.V1388V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1388						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGGACGAAGTCAAGGACCGGG	0.607																																						dbGAP											0													60.0	65.0	63.0					13																	32783135		1999	4155	6154	-	-	-	SO:0001819	synonymous_variant	0			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4164C>G	13.37:g.32783135C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y3N6	Silent	SNP	superfamily_ARM-type_fold	p.V1388	ENST00000380250.3	37	c.4164	CCDS41875.1	13																																																																																			FRY	-	NULL	ENSG00000073910		0.607	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	103	0.00	0	C	NM_023037		32783135	32783135	+1	no_errors	ENST00000380250	ensembl	human	known	69_37n	silent	65	19.75	16	SNP	0.712	G
CMTR1	23070	genome.wustl.edu	37	6	37427448	37427448	+	Silent	SNP	G	G	A			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr6:37427448G>A	ENST00000373451.4	+	10	1247	c.1083G>A	c.(1081-1083)ctG>ctA	p.L361L	CMTR1_ENST00000493656.1_3'UTR	NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	361	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										TCCATTTTCTGATGGCTGATG	0.413																																						dbGAP											0													313.0	298.0	303.0					6																	37427448		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1083G>A	6.37:g.37427448G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K949|Q14670|Q96FJ9	Silent	SNP	pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_Rsp5_WWP,pfscan_G_patch_dom	p.L361	ENST00000373451.4	37	c.1083	CCDS4835.1	6																																																																																			FTSJD2	-	pfam_rRNA_MeTrfase_FtsJ_dom	ENSG00000137200		0.413	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJD2	HGNC	protein_coding	OTTHUMT00000040408.1	634	0.00	0	G	NM_015050		37427448	37427448	+1	no_errors	ENST00000373451	ensembl	human	known	69_37n	silent	404	24.06	128	SNP	1.000	A
GNB3	2784	genome.wustl.edu	37	12	6952645	6952645	+	Missense_Mutation	SNP	G	G	A	rs201797921		TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr12:6952645G>A	ENST00000229264.3	+	7	791	c.386G>A	c.(385-387)cGt>cAt	p.R129H	GNB3_ENST00000435982.2_Missense_Mutation_p.R129H|CDCA3_ENST00000604599.1_5'Flank	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	129					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CTCAAATCCCGTGAGGGCAAT	0.592																																						dbGAP											0													118.0	110.0	113.0					12																	6952645		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.386G>A	12.37:g.6952645G>A	ENSP00000229264:p.Arg129His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96B71|Q9BQC0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep	p.R129H	ENST00000229264.3	37	c.386	CCDS8564.1	12	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494360	0.64186	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.01323	5.01;5.01;5.01;5.01	5.04	5.04	0.67666	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.109676	0.64402	D	0.000009	T	0.02970	0.0088	M	0.84326	2.69	0.54753	D	0.999986	P;P	0.43938	0.713;0.822	B;B	0.30316	0.051;0.114	T	0.51957	-0.8639	10	0.45353	T	0.12	-14.3159	18.5817	0.91174	0.0:0.0:1.0:0.0	.	129;129	E9PCP0;P16520	.;GBB3_HUMAN	H	129	ENSP00000229264:R129H;ENSP00000442002:R129H;ENSP00000414734:R129H;ENSP00000445967:R129H	ENSP00000229264:R129H	R	+	2	0	GNB3	6822906	1.000000	0.71417	0.973000	0.42090	0.105000	0.19272	5.084000	0.64462	2.619000	0.88677	0.561000	0.74099	CGT	GNB3	-	superfamily_WD40_repeat_dom,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat_dom	ENSG00000111664		0.592	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB3	HGNC	protein_coding	OTTHUMT00000400006.1	115	0.00	0	G	NM_002075		6952645	6952645	+1	no_errors	ENST00000229264	ensembl	human	known	69_37n	missense	78	12.36	11	SNP	0.996	A
HCCS	3052	genome.wustl.edu	37	X	11136711	11136711	+	Silent	SNP	G	G	A			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chrX:11136711G>A	ENST00000321143.4	+	5	694	c.492G>A	c.(490-492)gaG>gaA	p.E164E	HCCS_ENST00000380762.4_Silent_p.E164E|HCCS_ENST00000380763.3_Silent_p.E164E|Y_RNA_ENST00000384422.1_RNA|ARHGAP6_ENST00000534860.1_Intron	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	164					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						CTTGGAAGGAGATTTTGAAGT	0.368																																					Ovarian(86;1338 1347 1462 10340 37882)	dbGAP											0													131.0	121.0	125.0					X																	11136711		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"""cytochrome c heme-lyase"""	300056	"""holocytochrome c synthase (cytochrome c heme-lyase)"", ""microphthalamia with linear skin defects"""	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.492G>A	X.37:g.11136711G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUS1|Q502X8	Silent	SNP	pfam_Cyt_C/C1_haem_lyase	p.E164	ENST00000321143.4	37	c.492	CCDS14139.1	X																																																																																			HCCS	-	pfam_Cyt_C/C1_haem_lyase	ENSG00000004961		0.368	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCCS	HGNC	protein_coding	OTTHUMT00000055742.1	313	0.00	0	G			11136711	11136711	+1	no_errors	ENST00000321143	ensembl	human	known	69_37n	silent	201	15.19	36	SNP	1.000	A
HEATR3	55027	genome.wustl.edu	37	16	50102690	50102690	+	Splice_Site	SNP	G	G	T			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr16:50102690G>T	ENST00000299192.7	+	3	502		c.e3-1		HEATR3_ENST00000285767.4_Splice_Site|RP11-429P3.3_ENST00000568130.2_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3											cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTCTTGTGTAGAAATCTCAGT	0.383																																						dbGAP											0													267.0	246.0	253.0					16																	50102690		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.312-1G>T	16.37:g.50102690G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Splice_Site	SNP	-	e3-1	ENST00000299192.7	37	c.312-1	CCDS10739.1	16	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135310	0.77662	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0405	0.92997	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HEATR3	48660191	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.696000	0.91302	2.494000	0.84150	0.655000	0.94253	.	HEATR3	-	-	ENSG00000155393		0.383	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR3	HGNC	protein_coding	OTTHUMT00000256880.2	216	0.00	0	G	NM_182922	Intron	50102690	50102690	+1	no_errors	ENST00000299192	ensembl	human	known	69_37n	splice_site	128	10.49	15	SNP	1.000	T
HUWE1	10075	genome.wustl.edu	37	X	53579640	53579640	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chrX:53579640delC	ENST00000342160.3	-	61	9166	c.8709delG	c.(8707-8709)aggfs	p.R2903fs	HUWE1_ENST00000262854.6_Frame_Shift_Del_p.R2903fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2903					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACCCATCACTCCTGCCTTGCA	0.572																																						dbGAP											0													62.0	62.0	62.0					X																	53579640		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8709delG	X.37:g.53579640delC	ENSP00000340648:p.Arg2903fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Frame_Shift_Del	DEL	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.S2904fs	ENST00000342160.3	37	c.8709	CCDS35301.1	X																																																																																			HUWE1	-	NULL	ENSG00000086758		0.572	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	184	0.00	0	C	XM_497119		53579640	53579640	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	frame_shift_del	223	41.41	159	DEL	0.018	-
HUWE1	10075	genome.wustl.edu	37	X	53579644	53579645	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	CC	CC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chrX:53579644_53579645delCC	ENST00000342160.3	-	61	9161_9162	c.8704_8705delGG	c.(8704-8706)ggcfs	p.G2902fs	HUWE1_ENST00000262854.6_Frame_Shift_Del_p.G2902fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2902					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATCACTCCTGCCTTGCACTTCC	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8704_8705delGG	X.37:g.53579644_53579645delCC	ENSP00000340648:p.Gly2902fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Frame_Shift_Del	DEL	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.G2902fs	ENST00000342160.3	37	c.8705_8704	CCDS35301.1	X																																																																																			HUWE1	-	NULL	ENSG00000086758		0.584	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	175	0.00	0	CC	XM_497119		53579644	53579645	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	frame_shift_del	214	42.63	159	DEL	0.708:0.481	-
HUWE1	10075	genome.wustl.edu	37	X	53579648	53579649	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chrX:53579648_53579649insC	ENST00000342160.3	-	61	9157_9158	c.8700_8701insG	c.(8698-8703)gtgcaafs	p.Q2901fs	HUWE1_ENST00000262854.6_Frame_Shift_Ins_p.Q2901fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2901					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.Q2901K(1)|p.Q2791K(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTCCTGCCTTGCACTTCCGCCA	0.579																																						dbGAP											2	Substitution - Missense(2)	kidney(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8701dupG	X.37:g.53579649_53579649dupC	ENSP00000340648:p.Gln2901fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Frame_Shift_Ins	INS	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.Q2900fs	ENST00000342160.3	37	c.8701_8700	CCDS35301.1	X																																																																																			HUWE1	-	NULL	ENSG00000086758		0.579	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	161	0.00	0	-	XM_497119		53579648	53579649	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	frame_shift_ins	216	42.86	162	INS	0.854:0.001	C
INTS5	80789	genome.wustl.edu	37	11	62414499	62414499	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr11:62414499C>T	ENST00000330574.2	-	2	3105	c.3053G>A	c.(3052-3054)gGg>gAg	p.G1018E	GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000356638.3_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	1018					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGGCTACGTCCCCTGTCGAAG	0.577																																						dbGAP											0													63.0	56.0	58.0					11																	62414499		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.3053G>A	11.37:g.62414499C>T	ENSP00000327889:p.Gly1018Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6W5|Q9C0G5	Missense_Mutation	SNP	NULL	p.G1018E	ENST00000330574.2	37	c.3053	CCDS8027.1	11	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546838	0.65198	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000010	T	0.56171	0.1967	N	0.19112	0.55	0.35944	D	0.833448	D	0.61080	0.989	P	0.62014	0.897	T	0.66858	-0.5817	9	0.87932	D	0	-10.613	15.08	0.72108	0.0:1.0:0.0:0.0	.	1018	Q6P9B9	INT5_HUMAN	E	1018	.	ENSP00000327889:G1018E	G	-	2	0	INTS5	62171075	0.992000	0.36948	1.000000	0.80357	0.119000	0.20118	2.181000	0.42547	2.710000	0.92621	0.650000	0.86243	GGG	INTS5	-	NULL	ENSG00000185085		0.577	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS5	HGNC	protein_coding	OTTHUMT00000395327.1	85	0.00	0	C	NM_030628		62414499	62414499	-1	no_errors	ENST00000330574	ensembl	human	known	69_37n	missense	18	33.33	9	SNP	1.000	T
ITGA11	22801	genome.wustl.edu	37	15	68654007	68654007	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr15:68654007G>T	ENST00000315757.7	-	5	479	c.393C>A	c.(391-393)agC>agA	p.S131R	ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000423218.2_Missense_Mutation_p.S131R	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	131					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TGTAGTAGGAGCTCCCACACT	0.572																																						dbGAP											0													57.0	57.0	57.0					15																	68654007		1962	4144	6106	-	-	-	SO:0001583	missense	0			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.393C>A	15.37:g.68654007G>T	ENSP00000327290:p.Ser131Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.S131R	ENST00000315757.7	37	c.393	CCDS45291.1	15	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253553	0.59212	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	T;T	0.72051	-0.62;-0.62	4.67	0.26	0.15588	.	0.041485	0.85682	D	0.000000	T	0.76990	0.4065	M	0.61703	1.905	0.43010	D	0.994545	D;D	0.89917	1.0;1.0	D;D	0.91635	0.98;0.999	T	0.72004	-0.4421	10	0.32370	T	0.25	.	8.7768	0.34767	0.4369:0.0:0.5631:0.0	.	131;131	A8K8T0;Q9UKX5	.;ITA11_HUMAN	R	131	ENSP00000327290:S131R;ENSP00000403392:S131R	ENSP00000327290:S131R	S	-	3	2	ITGA11	66441061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.446000	0.35090	0.081000	0.16988	0.561000	0.74099	AGC	ITGA11	-	NULL	ENSG00000137809		0.572	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding		21	0.00	0	G	NM_012211		68654007	68654007	-1	no_errors	ENST00000315757	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	0.999	T
KIF13B	23303	genome.wustl.edu	37	8	29006116	29006117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr8:29006116_29006117insC	ENST00000524189.1	-	16	1828_1829	c.1790_1791insG	c.(1789-1791)accfs	p.T597fs	KIF13B_ENST00000521515.1_Frame_Shift_Ins_p.T597fs	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	597					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GGGCCTTCATGGTGACCTCCAT	0.53																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1790_1791insG	8.37:g.29006116_29006117insC	ENSP00000427900:p.Thr597fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M598fs	ENST00000524189.1	37	c.1791_1790	CCDS55217.1	8																																																																																			KIF13B	-	NULL	ENSG00000197892		0.530	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	54	0.00	0	-			29006116	29006117	-1	no_errors	ENST00000524189	ensembl	human	known	69_37n	frame_shift_ins	69	12.66	10	INS	1.000:1.000	C
KIF3C	3797	genome.wustl.edu	37	2	26203790	26203791	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr2:26203790_26203791insC	ENST00000264712.3	-	1	1575_1576	c.996_997insG	c.(994-999)gggaatfs	p.N333fs	KIF3C_ENST00000405914.1_Frame_Shift_Ins_p.N333fs	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	333	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTTGGCATTCCCCCCCAGGG	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.997dupG	2.37:g.26203797_26203797dupC	ENSP00000264712:p.Asn333fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O43544|Q4ZG18|Q53SX5|Q562F7	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.N332fs	ENST00000264712.3	37	c.997_996	CCDS1719.1	2																																																																																			KIF3C	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000084731		0.614	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3C	HGNC	protein_coding	OTTHUMT00000211611.1	30	0.00	0	-			26203790	26203791	-1	no_errors	ENST00000264712	ensembl	human	known	69_37n	frame_shift_ins	18	10.00	2	INS	0.997:0.009	C
KIFAP3	22920	genome.wustl.edu	37	1	170004659	170004659	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr1:170004659C>T	ENST00000361580.2	-	6	780	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	KIFAP3_ENST00000367765.1_Missense_Mutation_p.E145K|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000538366.1_Missense_Mutation_p.E107K|KIFAP3_ENST00000367767.1_Missense_Mutation_p.E141K	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	185					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCCAGTCTTCTCTCAGGACC	0.373																																						dbGAP											0													62.0	65.0	64.0					1																	170004659		2203	4300	6503	-	-	-	SO:0001583	missense	0			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.553G>A	1.37:g.170004659C>T	ENSP00000354560:p.Glu185Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E185K	ENST00000361580.2	37	c.553	CCDS1288.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.475960	0.96291	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000538366	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.71091	0.3299	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.999;0.998;0.994	T	0.73534	-0.3952	9	.	.	.	-25.3107	18.4483	0.90693	0.0:1.0:0.0:0.0	.	107;141;185	B7Z8A3;B1AKU5;Q92845	.;.;KIFA3_HUMAN	K	185;145;141;107	ENSP00000354560:E185K;ENSP00000356739:E145K;ENSP00000356741:E141K;ENSP00000444622:E107K	.	E	-	1	0	KIFAP3	168271283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.050000	0.76620	2.539000	0.85634	0.555000	0.69702	GAA	KIFAP3	-	NULL	ENSG00000075945		0.373	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFAP3	HGNC	protein_coding	OTTHUMT00000087568.1	137	0.00	0	C	NM_014970		170004659	170004659	-1	no_errors	ENST00000361580	ensembl	human	known	69_37n	missense	55	30.38	24	SNP	1.000	T
MARCKS	4082	genome.wustl.edu	37	6	114181729	114181730	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr6:114181729_114181730insC	ENST00000368635.4	+	2	1354_1355	c.973_974insC	c.(973-975)gccfs	p.A325fs		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	325					energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|germinal vesicle (GO:0042585)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|calmodulin binding (GO:0005516)			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CAGTCCAGAAGCCCCCCCAGCG	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M68956	CCDS5101.1	6q21	2014-04-10	2001-12-17	2001-12-20	ENSG00000155130	ENSG00000277443			6759	protein-coding gene	gene with protein product		177061	"""myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)"""	MACS		1560845, 8420923	Standard	NM_002356		Approved	PKCSL, 80K-L	uc003pvy.4	P29966	OTTHUMG00000188327	ENST00000368635.4:c.980dupC	6.37:g.114181736_114181736dupC	ENSP00000357624:p.Ala325fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P560|Q2LA83|Q5TDB7	Frame_Shift_Ins	INS	pfam_MARCKS,prints_MARCKS	p.A328fs	ENST00000368635.4	37	c.973_974	CCDS5101.1	6																																																																																			MARCKS	-	pfam_MARCKS	ENSG00000155130		0.644	MARCKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCKS	HGNC	protein_coding	OTTHUMT00000041903.1	32	0.00	0	-	NM_002356		114181729	114181730	+1	no_errors	ENST00000368635	ensembl	human	known	69_37n	frame_shift_ins	14	12.50	2	INS	1.000:0.999	C
MED23	9439	genome.wustl.edu	37	6	131911508	131911508	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr6:131911508G>A	ENST00000368068.3	-	27	3940	c.3761C>T	c.(3760-3762)cCa>cTa	p.P1254L	MED23_ENST00000479213.1_5'UTR|MED23_ENST00000545957.1_Missense_Mutation_p.P895L|MED23_ENST00000403834.3_Missense_Mutation_p.P1260L|MED23_ENST00000368058.1_Missense_Mutation_p.P1260L|MED23_ENST00000368060.3_Missense_Mutation_p.P1254L|MED23_ENST00000354577.4_Missense_Mutation_p.P1260L	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1254					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)		TTGTAAAAATGGTCCAACAAG	0.323																																						dbGAP											0													73.0	76.0	75.0					6																	131911508		2203	4299	6502	-	-	-	SO:0001583	missense	0			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.3761C>T	6.37:g.131911508G>A	ENSP00000357047:p.Pro1254Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	pfam_Mediator_Med23	p.P1260L	ENST00000368068.3	37	c.3779	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.261830	0.95368	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.89336	0.6686	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89587	0.3825	10	0.87932	D	0	-11.7954	19.8411	0.96685	0.0:0.0:1.0:0.0	.	1254;1260	Q9ULK4;Q9ULK4-3	MED23_HUMAN;.	L	1260;1254;1260;1254;1260;895	ENSP00000346588:P1260L;ENSP00000357047:P1254L;ENSP00000384536:P1260L;ENSP00000357039:P1254L;ENSP00000357037:P1260L;ENSP00000439977:P895L	ENSP00000346588:P1260L	P	-	2	0	MED23	131953201	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.148000	0.94652	2.683000	0.91414	0.655000	0.94253	CCA	MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.323	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	134	0.00	0	G			131911508	131911508	-1	no_errors	ENST00000368058	ensembl	human	known	69_37n	missense	36	26.53	13	SNP	1.000	A
MED26	9441	genome.wustl.edu	37	19	16687548	16687548	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr19:16687548G>T	ENST00000263390.3	-	3	1355	c.1093C>A	c.(1093-1095)Ccc>Acc	p.P365T	CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.P373T|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	365					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GACAGGAGGGGCTCGGCTGGG	0.667																																						dbGAP											0													22.0	22.0	22.0					19																	16687548		2200	4300	6500	-	-	-	SO:0001583	missense	0			AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.1093C>A	19.37:g.16687548G>T	ENSP00000263390:p.Pro365Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4S3|Q0VGB6	Missense_Mutation	SNP	pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.P365T	ENST00000263390.3	37	c.1093	CCDS12347.1	19	.	.	.	.	.	.	.	.	.	.	G	0.175	-1.067608	0.01934	.	.	ENSG00000105085	ENST00000263390	.	.	.	3.89	0.475	0.16774	.	0.896444	0.09585	U	0.782255	T	0.32224	0.0822	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34129	-0.9841	9	0.66056	D	0.02	-4.922	3.6184	0.08086	0.4192:0.0:0.41:0.1708	.	365	O95402	MED26_HUMAN	T	365	.	ENSP00000263390:P365T	P	-	1	0	MED26	16548548	0.998000	0.40836	0.002000	0.10522	0.031000	0.12232	0.619000	0.24388	-0.097000	0.12307	-0.396000	0.06452	CCC	MED26	-	NULL	ENSG00000105085		0.667	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED26	HGNC	protein_coding	OTTHUMT00000461178.1	10	0.00	0	G	NM_004831		16687548	16687548	-1	no_errors	ENST00000263390	ensembl	human	known	69_37n	missense	7	69.57	16	SNP	0.097	T
MEGF11	84465	genome.wustl.edu	37	15	66273125	66273126	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr15:66273125_66273126insG	ENST00000409699.2	-	7	924_925	c.752_753insC	c.(751-753)ccafs	p.P251fs	MEGF11_ENST00000288745.3_Frame_Shift_Ins_p.P176fs|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000422354.1_Frame_Shift_Ins_p.P251fs|MEGF11_ENST00000360698.4_Frame_Shift_Ins_p.P251fs|MEGF11_ENST00000395625.2_Frame_Shift_Ins_p.P176fs			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	251	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CCGTCCAGCCTGGGGGGCAGGC	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.753dupC	15.37:g.66273131_66273131dupG	ENSP00000386908:p.Pro251fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17R86|Q6UXS5|Q8ND91|Q96KG6	Frame_Shift_Ins	INS	pfam_EGF_laminin,pfam_EGF_extracell,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain	p.G252fs	ENST00000409699.2	37	c.753_752	CCDS10213.2	15																																																																																			MEGF11	-	pfam_EGF_extracell,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom	ENSG00000157890		0.619	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF11	HGNC	protein_coding	OTTHUMT00000329307.2	12	0.00	0	-	NM_032445		66273125	66273126	-1	no_errors	ENST00000409699	ensembl	human	known	69_37n	frame_shift_ins	4	42.86	3	INS	0.995:1.000	G
MEPCE	56257	genome.wustl.edu	37	7	100029247	100029248	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr7:100029247_100029248insC	ENST00000310512.2	+	1	1994_1995	c.1606_1607insC	c.(1606-1608)gccfs	p.A536fs	ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_Frame_Shift_Ins_p.A67fs|ZCWPW1_ENST00000324725.6_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	536	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCCATCGCTGCCCCCCAAGTG	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1612dupC	7.37:g.100029253_100029253dupC	ENSP00000308546:p.Ala536fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP86|D6W5V7|Q9NPD4	Frame_Shift_Ins	INS	pfam_Bin3	p.Q538fs	ENST00000310512.2	37	c.1606_1607	CCDS5693.1	7																																																																																			MEPCE	-	NULL	ENSG00000146834		0.629	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPCE	HGNC	protein_coding	OTTHUMT00000339135.1	11	0.00	0	-			100029247	100029248	+1	no_errors	ENST00000310512	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:1.000	C
MUC16	94025	genome.wustl.edu	37	19	8993436	8993436	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr19:8993436G>T	ENST00000397910.4	-	66	41856	c.41653C>A	c.(41653-41655)Ctg>Atg	p.L13885M	MUC16_ENST00000380951.5_Missense_Mutation_p.L526M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13888	SEA 12. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGGGTCAGCTGGCTCAGC	0.592																																						dbGAP											0													137.0	128.0	130.0					19																	8993436		2034	4172	6206	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41653C>A	19.37:g.8993436G>T	ENSP00000381008:p.Leu13885Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.L13885M	ENST00000397910.4	37	c.41653	CCDS54212.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.86|14.86	2.662276|2.662276	0.47572|0.47572	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.51071|.	0.72;0.72|.	3.61|3.61	-2.7|-2.7	0.06004|0.06004	SEA (1);|.	1.919400|.	0.03817|.	U|.	0.266884|.	T|T	0.52693|0.52693	0.1750|0.1750	M|M	0.62266|0.62266	1.93|1.93	.|.	.|.	.|.	P;D|.	0.57899|.	0.938;0.981|.	P;D|.	0.79784|.	0.69;0.993|.	T|T	0.60576|0.60576	-0.7236|-0.7236	9|4	0.36615|.	T|.	0.2|.	.|.	9.0969|9.0969	0.36645|0.36645	0.122:0.2454:0.6326:0.0|0.122:0.2454:0.6326:0.0	.|.	21530;13885|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	M|R	13885;526|724	ENSP00000381008:L13885M;ENSP00000370338:L526M|.	ENSP00000370338:L526M|.	L|S	-|-	1|3	2|2	MUC16|MUC16	8854436|8854436	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.806000|0.806000	0.45545|0.45545	-1.156000|-1.156000	0.03160|0.03160	-0.271000|-0.271000	0.09272|0.09272	0.557000|0.557000	0.71058|0.71058	CTG|AGC	MUC16	-	pfam_SEA	ENSG00000181143		0.592	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	380	0.26	1	G	NM_024690		8993436	8993436	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	419	26.88	154	SNP	0.000	T
OR2A1	346528	genome.wustl.edu	37	7	144015841	144015841	+	Silent	SNP	G	G	A	rs199515997		TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr7:144015841G>A	ENST00000408951.1	+	1	624	c.624G>A	c.(622-624)ggG>ggA	p.G208G	OR2A1-AS1_ENST00000496968.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000493539.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000488041.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000467944.1_RNA|OR2A1-AS1_ENST00000478925.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000486094.1_RNA|OR2A1-AS1_ENST00000475089.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					TCCTGGTGGGGCCACCCAGCC	0.602																																						dbGAP											0													1.0	1.0	1.0					7																	144015841		584	1387	1971	-	-	-	SO:0001819	synonymous_variant	0				CCDS43673.1	7q35	2013-09-20			ENSG00000221970	ENSG00000221970		"""GPCR / Class A : Olfactory receptors"""	8229	protein-coding gene	gene with protein product							Standard	NM_001005287		Approved		uc011kub.2	Q8NGT9	OTTHUMG00000158005	ENST00000408951.1:c.624G>A	7.37:g.144015841G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF44|Q96R46	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.G208	ENST00000408951.1	37	c.624	CCDS43673.1	7																																																																																			OR2A1	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000221970		0.602	OR2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A1	HGNC	protein_coding	OTTHUMT00000349985.1	14	0.00	0	G			144015841	144015841	+1	no_errors	ENST00000408951	ensembl	human	known	69_37n	silent	13	27.78	5	SNP	0.000	A
PCDH9	5101	genome.wustl.edu	37	13	67802470	67802470	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr13:67802470G>C	ENST00000377865.2	-	1	237	c.103C>G	c.(103-105)Cct>Gct	p.P35A	PCDH9_ENST00000544246.1_Missense_Mutation_p.P35A|PCDH9_ENST00000328454.5_Missense_Mutation_p.P35A|PCDH9_ENST00000456367.1_Missense_Mutation_p.P35A|PCDH9_ENST00000377861.3_Missense_Mutation_p.P35A			Q9HC56	PCDH9_HUMAN	protocadherin 9	35	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACATTTTCAGGCAATTCCTCT	0.458																																						dbGAP											0													106.0	102.0	103.0					13																	67802470		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.103C>G	13.37:g.67802470G>C	ENSP00000367096:p.Pro35Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P35A	ENST00000377865.2	37	c.103	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256217	0.59321	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	5.82	5.82	0.92795	Cadherin, N-terminal (1);Cadherin (2);	0.053212	0.85682	D	0.000000	T	0.44664	0.1304	L	0.48935	1.535	0.58432	D	0.999999	P;P;P;P	0.51791	0.948;0.911;0.891;0.948	P;P;P;P	0.59643	0.861;0.73;0.72;0.816	T	0.21280	-1.0250	10	0.87932	D	0	.	20.1012	0.97876	0.0:0.0:1.0:0.0	.	35;35;35;35	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	A	35	ENSP00000442186:P35A;ENSP00000367096:P35A;ENSP00000401699:P35A;ENSP00000332060:P35A;ENSP00000367092:P35A	ENSP00000332060:P35A	P	-	1	0	PCDH9	66700471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.754000	0.94517	0.650000	0.86243	CCT	PCDH9	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000184226		0.458	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	118	0.00	0	G	NM_203487		67802470	67802470	-1	no_errors	ENST00000377865	ensembl	human	known	69_37n	missense	81	18.18	18	SNP	1.000	C
PCDHGB3	56102	genome.wustl.edu	37	5	140750139	140750139	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr5:140750139G>T	ENST00000576222.1	+	1	309	c.178G>T	c.(178-180)Gat>Tat	p.D60Y	PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	60	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGTGGGGGATTTACCTAC	0.557																																						dbGAP											0													98.0	106.0	103.0					5																	140750139		1848	4094	5942	-	-	-	SO:0001583	missense	0			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.178G>T	5.37:g.140750139G>T	ENSP00000461862:p.Asp60Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E229|Q9Y5C7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D60Y	ENST00000576222.1	37	c.178	CCDS58980.1	5																																																																																			PCDHGB3	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000262209		0.557	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB3	HGNC	protein_coding	OTTHUMT00000437094.1	104	0.00	0	G	NM_018924		140750139	140750139	+1	no_errors	ENST00000576222	ensembl	human	known	69_37n	missense	44	16.98	9	SNP	0.007	T
PREB	10113	genome.wustl.edu	37	2	27356186	27356186	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr2:27356186delA	ENST00000260643.2	-	3	598	c.345delT	c.(343-345)cctfs	p.P115fs	PREB_ENST00000416802.1_5'UTR|PREB_ENST00000406567.3_Frame_Shift_Del_p.P115fs	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	115					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTTGTCGAGGCCCCTGCT	0.567																																						dbGAP											0													145.0	154.0	151.0					2																	27356186		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"""WD repeat domain containing"""	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.345delT	2.37:g.27356186delA	ENSP00000260643:p.Pro115fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SZ8|Q9UH94	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R116fs	ENST00000260643.2	37	c.345	CCDS1738.1	2																																																																																			PREB	-	NULL	ENSG00000138073		0.567	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREB	HGNC	protein_coding	OTTHUMT00000214195.1	87	0.00	0	A	NM_013388		27356186	27356186	-1	no_errors	ENST00000260643	ensembl	human	known	69_37n	frame_shift_del	58	37.11	36	DEL	0.918	-
RAB15	376267	genome.wustl.edu	37	14	65417692	65417695	+	Intron	DEL	AAAG	AAAG	-			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	AAAG	AAAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr14:65417692_65417695delAAAG	ENST00000533601.2	-	4	662				FNTB_ENST00000447296.2_Intron|RAB15_ENST00000267512.5_Frame_Shift_Del_p.LC141fs|RAB15_ENST00000436278.2_Frame_Shift_Del_p.LC95fs|FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000549987.1_Intron|RAB15_ENST00000426039.3_Intron			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family						protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		TGTGGAAGGCAAAGCTTCCTGGAA	0.598																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC014511	CCDS9768.1	14q23.2	2012-02-28	2012-02-28		ENSG00000139998	ENSG00000139998		"""RAB, member RAS oncogene"""	20150	protein-coding gene	gene with protein product						11697911	Standard	NM_198686		Approved		uc001xhz.2	P59190	OTTHUMG00000142810	ENST00000533601.2:c.324+96CTTT>-	14.37:g.65417692_65417695delAAAG		Somatic		WXS	Illumina GAIIx	Phase_IV	G5EMR7|Q86TX7|Q8IW89	Frame_Shift_Del	DEL	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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.L141fs	ENST00000533601.2	37	c.424_421		14																																																																																			RAB15	-	smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase	ENSG00000139998		0.598	RAB15-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	RAB15	HGNC	protein_coding	OTTHUMT00000390443.2	21	0.00	0	AAAG	NM_198686		65417692	65417695	-1	no_errors	ENST00000267512	ensembl	human	known	69_37n	frame_shift_del	28	30.95	13	DEL	0.000:0.001:0.000:0.000	-
RIMBP3	85376	genome.wustl.edu	37	22	20457060	20457060	+	Silent	SNP	C	C	G	rs200551182		TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr22:20457060C>G	ENST00000426804.1	-	1	4726	c.4242G>C	c.(4240-4242)gtG>gtC	p.V1414V	SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1414										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			ACCCTCTCTTCACCCCCAGAG	0.637																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.4242G>C	22.37:g.20457060C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYP7|Q9BY94|Q9UFQ5	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain	p.V1414	ENST00000426804.1	37	c.4242	CCDS46665.1	22																																																																																			RIMBP3	-	NULL	ENSG00000196622		0.637	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP3	HGNC	protein_coding	OTTHUMT00000318945.2	8	0.00	0	C	NM_015672		20457060	20457060	-1	no_errors	ENST00000426804	ensembl	human	known	69_37n	silent	2	77.78	7	SNP	0.000	G
SLC7A14	57709	genome.wustl.edu	37	3	170201117	170201117	+	Silent	SNP	G	G	A			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr3:170201117G>A	ENST00000231706.5	-	6	1416	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	367					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.D367D(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AAAGGAGCCCGTCACCAGCCA	0.537											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - coding silent(1)	endometrium(1)											77.0	73.0	74.0					3																	170201117		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1101C>T	3.37:g.170201117G>A		Somatic	1883	WXS	Illumina GAIIx	Phase_IV	B3KV33|Q9HCF9	Silent	SNP	pfam_AA-permease_dom	p.D367	ENST00000231706.5	37	c.1101	CCDS33892.1	3																																																																																			SLC7A14	-	pfam_AA-permease_dom	ENSG00000013293		0.537	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	91	0.00	0	G	NM_020949		170201117	170201117	-1	no_errors	ENST00000231706	ensembl	human	known	69_37n	silent	121	17.01	25	SNP	1.000	A
SON	6651	genome.wustl.edu	37	21	34925625	34925627	+	In_Frame_Del	DEL	CGG	CGG	-	rs140276173	byFrequency	TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	CGG	CGG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr21:34925625_34925627delCGG	ENST00000356577.4	+	3	4563_4565	c.4088_4090delCGG	c.(4087-4092)tcggct>tct	p.A1364del	SON_ENST00000381679.4_In_Frame_Del_p.A1364del|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_In_Frame_Del_p.A1364del|SON_ENST00000300278.4_In_Frame_Del_p.A1364del	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1364	4 X 8 AA tandem repeats of V-L-E-SS- [AVT]-VT.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTGGAGTCTTCGGCTGTGACCGT	0.576																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.4088_4090delCGG	21.37:g.34925625_34925627delCGG	ENSP00000348984:p.Ala1364del	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	In_Frame_Del	DEL	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd	p.A1364in_frame_del	ENST00000356577.4	37	c.4088_4090	CCDS13629.1	21																																																																																			SON	-	NULL	ENSG00000159140		0.576	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	33	0.00	0	CGG	NM_138927		34925625	34925627	+1	no_errors	ENST00000356577	ensembl	human	known	69_37n	in_frame_del	28	50.00	28	DEL	0.001:0.000:0.002	-
SPATC1	375686	genome.wustl.edu	37	8	145095485	145095486	+	Frame_Shift_Ins	INS	-	-	C	rs139626189		TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr8:145095485_145095486insC	ENST00000377470.3	+	3	885_886	c.783_784insC	c.(784-786)cccfs	p.P262fs	SPATC1_ENST00000447830.2_Frame_Shift_Ins_p.P262fs	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	262						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTCCACTGAGCCCCCCCAGTC	0.619																																						dbGAP											0									,	8,4256		0,8,2124					,	-0.2	0.0			104	11,8243		0,11,4116	no	frameshift,frameshift	SPATC1	NM_198572.2,NM_001134374.1	,	0,19,6240	A1A1,A1R,RR		0.1333,0.1876,0.1518	,	,		19,12499				-	-	-	SO:0001589	frameshift_variant	0			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.790dupC	8.37:g.145095492_145095492dupC	ENSP00000366690:p.Pro262fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWW9|Q5U5I8|Q7Z6L7	Frame_Shift_Ins	INS	NULL	p.Q263fs	ENST00000377470.3	37	c.783_784	CCDS6413.2	8																																																																																			SPATC1	-	NULL	ENSG00000186583		0.619	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATC1	HGNC	protein_coding	OTTHUMT00000346926.1	17	0.00	0	-	NM_198572		145095485	145095486	+1	no_errors	ENST00000377470	ensembl	human	known	69_37n	frame_shift_ins	19	13.64	3	INS	0.013:0.003	C
SPTBN4	57731	genome.wustl.edu	37	19	41021284	41021284	+	Silent	SNP	C	C	T			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr19:41021284C>T	ENST00000352632.3	+	15	2918	c.2832C>T	c.(2830-2832)gtC>gtT	p.V944V	SPTBN4_ENST00000598249.1_Silent_p.V944V|SPTBN4_ENST00000344104.3_Silent_p.V944V|SPTBN4_ENST00000338932.3_Silent_p.V944V|SPTBN4_ENST00000595535.1_Silent_p.V944V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	944					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACCACACAGTCCAGGAGCTGG	0.612																																						dbGAP											0													52.0	38.0	42.0					19																	41021284		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2832C>T	19.37:g.41021284C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.V944	ENST00000352632.3	37	c.2832	CCDS12559.1	19																																																																																			SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.612	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	19	0.00	0	C			41021284	41021284	+1	no_errors	ENST00000352632	ensembl	human	known	69_37n	silent	10	41.18	7	SNP	0.815	T
SSRP1	6749	genome.wustl.edu	37	11	57099870	57099870	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr11:57099870G>T	ENST00000278412.2	-	7	1125	c.859C>A	c.(859-861)Ctg>Atg	p.L287M		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	287					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TTCATGTTCAGAGTCAACGAA	0.522																																					Colon(89;1000 1340 6884 23013 41819)	dbGAP											0													224.0	171.0	189.0					11																	57099870		2201	4296	6497	-	-	-	SO:0001583	missense	0			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.859C>A	11.37:g.57099870G>T	ENSP00000278412:p.Leu287Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BJG8	Missense_Mutation	SNP	pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_SSrcognition	p.L287M	ENST00000278412.2	37	c.859	CCDS7952.1	11	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139769	0.77775	.	.	ENSG00000149136	ENST00000278412;ENST00000526696	T;T	0.53206	0.63;0.63	5.65	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	M	0.79258	2.445	0.80722	D	1	D	0.61080	0.989	P	0.58721	0.844	T	0.71530	-0.4565	10	0.59425	D	0.04	-21.6773	16.1894	0.81975	0.0:0.1334:0.8666:0.0	.	287	Q08945	SSRP1_HUMAN	M	287;190	ENSP00000278412:L287M;ENSP00000431154:L190M	ENSP00000278412:L287M	L	-	1	2	SSRP1	56856446	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.357000	0.79456	1.585000	0.49928	0.655000	0.94253	CTG	SSRP1	-	pfam_SSRP1_dom	ENSG00000149136		0.522	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSRP1	HGNC	protein_coding	OTTHUMT00000392460.1	55	0.00	0	G	NM_003146		57099870	57099870	-1	no_errors	ENST00000278412	ensembl	human	known	69_37n	missense	236	12.59	34	SNP	1.000	T
TMEM151A	256472	genome.wustl.edu	37	11	66061808	66061809	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr11:66061808_66061809insTG	ENST00000327259.4	+	2	235_236	c.91_92insTG	c.(91-93)cagfs	p.Q31fs		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	31						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						GCCCCTGAAACAGTCCCTGGGA	0.658																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"""transmembrane protein 151"""	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	Exception_encountered	11.37:g.66061808_66061809insTG	ENSP00000326244:p.Gln31fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8ND14	Frame_Shift_Ins	INS	NULL	p.Q31fs	ENST00000327259.4	37	c.91_92	CCDS8133.1	11																																																																																			TMEM151A	-	NULL	ENSG00000179292		0.658	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM151A	HGNC	protein_coding	OTTHUMT00000391897.1	15	0.00	0	-	NM_153266		66061808	66061809	+1	no_errors	ENST00000327259	ensembl	human	known	69_37n	frame_shift_ins	13	27.78	5	INS	1.000:1.000	TG
TMEM71	137835	genome.wustl.edu	37	8	133764157	133764157	+	Missense_Mutation	SNP	C	C	T	rs542588923		TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr8:133764157C>T	ENST00000356838.3	-	4	330	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.R63Q|TMEM71_ENST00000523829.1_Missense_Mutation_p.R63Q	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	63						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCTGGGACTTCGGCGACAGGT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		17747	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													122.0	115.0	117.0					8																	133764157		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.188G>A	8.37:g.133764157C>T	ENSP00000349296:p.Arg63Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	NULL	p.R63Q	ENST00000356838.3	37	c.188	CCDS6366.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.161444	0.94727	.	.	ENSG00000165071	ENST00000523829;ENST00000356838;ENST00000377901;ENST00000519187;ENST00000519304	.	.	.	5.81	4.94	0.65067	.	0.000000	0.64402	D	0.000002	T	0.70587	0.3241	M	0.77103	2.36	0.35981	D	0.836019	D;P;D	0.76494	0.999;0.681;0.996	P;B;P	0.56865	0.808;0.123;0.643	T	0.80410	-0.1394	9	0.72032	D	0.01	-5.413	12.2758	0.54735	0.0:0.9224:0.0:0.0776	.	63;63;63	Q6P5X7;Q6P5X7-3;Q6P5X7-2	TMM71_HUMAN;.;.	Q	63	.	ENSP00000349296:R63Q	R	-	2	0	TMEM71	133833339	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	3.099000	0.50267	1.461000	0.47929	0.655000	0.94253	CGA	TMEM71	-	NULL	ENSG00000165071		0.493	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM71	HGNC	protein_coding	OTTHUMT00000379591.1	248	0.00	0	C	NM_144649		133764157	133764157	-1	no_errors	ENST00000356838	ensembl	human	known	69_37n	missense	269	28.98	111	SNP	1.000	T
UBAP1	51271	genome.wustl.edu	37	9	34251528	34251529	+	Stop_Codon_Ins	INS	-	-	CTA			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr9:34251528_34251529insCTA	ENST00000297661.4	+	0	1742_1743				UBAP1_ENST00000379186.4_Stop_Codon_Ins|UBAP1_ENST00000540348.1_Stop_Codon_Ins|UBAP1_ENST00000359544.2_Stop_Codon_Ins|UBAP1_ENST00000545103.1_Stop_Codon_Ins|UBAP1_ENST00000543944.1_Stop_Codon_Ins|UBAP1_ENST00000536252.1_Stop_Codon_Ins	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1						protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			AGGAGCCAGCTGAGACCAGGCC	0.564																																					NSCLC(109;1074 1634 14978 20375 39620)	dbGAP											0																																										-	-	-	SO:0001567	stop_retained_variant	0			AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	Exception_encountered	9.37:g.34251528_34251529insCTA	ENSP00000297661:p.*503Serext*55	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	In_Frame_Ins	INS	superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk	p.*567in_frame_insSR	ENST00000297661.4	37	c.1699_1700	CCDS6550.1	9																																																																																			UBAP1	-	NULL	ENSG00000165006		0.564	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP1	HGNC	protein_coding	OTTHUMT00000001084.1	12	0.00	0	-			34251528	34251529	+1	no_errors	ENST00000545103	ensembl	human	known	69_37n	in_frame_ins	15	40.00	10	INS	1.000:1.000	CTA
UMODL1	89766	genome.wustl.edu	37	21	43505492	43505492	+	Silent	SNP	C	C	T			TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr21:43505492C>T	ENST00000408910.2	+	4	573	c.573C>T	c.(571-573)ctC>ctT	p.L191L	UMODL1_ENST00000400427.1_Silent_p.L119L|UMODL1_ENST00000400424.2_Silent_p.L119L|UMODL1_ENST00000408989.2_Silent_p.L191L	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	191					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACCCCAGGCTCCTGAACCACA	0.587																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	dbGAP											0													145.0	149.0	148.0					21																	43505492		1940	4142	6082	-	-	-	SO:0001819	synonymous_variant	0				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.573C>T	21.37:g.43505492C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3	p.S27F	ENST00000408910.2	37	c.80	CCDS42936.1	21																																																																																			UMODL1	-	NULL	ENSG00000177398		0.587	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	126	0.00	0	C			43505492	43505492	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000400421	ensembl	human	known	69_37n	missense	64	20.00	16	SNP	0.752	T
WDTC1	23038	genome.wustl.edu	37	1	27621107	27621108	+	Frame_Shift_Ins	INS	-	-	G	rs145339479		TCGA-A8-A07J-01A-11W-A019-09	TCGA-A8-A07J-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c8eac36c-c3a7-4c88-b928-832ab279045b	2dae6992-3060-4e22-9383-698c791cd3b1	g.chr1:27621107_27621108insG	ENST00000319394.3	+	9	1395_1396	c.860_861insG	c.(859-864)atggggfs	p.MG287fs	WDTC1_ENST00000361771.3_Frame_Shift_Ins_p.MG287fs	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	287					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTAGTCAACATGGGGGGGGAAC	0.54																																						dbGAP											0										21,4245		0,21,2112						5.7	1.0			69	14,8240		0,14,4113	no	frameshift	WDTC1	NM_015023.3		0,35,6225	A1A1,A1R,RR		0.1696,0.4923,0.2796				35,12485				-	-	-	SO:0001589	frameshift_variant	0			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.868dupG	1.37:g.27621115_27621115dupG	ENSP00000317971:p.Met287fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Frame_Shift_Ins	INS	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E290fs	ENST00000319394.3	37	c.860_861		1																																																																																			WDTC1	-	superfamily_WD40_repeat_dom	ENSG00000142784		0.540	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding		35	0.00	0	-	NM_015023		27621107	27621108	+1	no_errors	ENST00000319394	ensembl	human	known	69_37n	frame_shift_ins	38	11.63	5	INS	1.000:1.000	G
