#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
ACLY	47	genome.wustl.edu	37	17	40065254	40065254	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr17:40065254T>A	ENST00000352035.2	-	6	734	c.604A>T	c.(604-606)Atc>Ttc	p.I202F	ACLY_ENST00000353196.1_Missense_Mutation_p.I202F|ACLY_ENST00000590151.1_Missense_Mutation_p.I202F|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Missense_Mutation_p.I202F	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	202	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				AGGGGATTGATCTCGAGGTAG	0.547																																					Colon(64;807 1396 15971 30971)	dbGAP											0													68.0	69.0	68.0					17																	40065254		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.604A>T	17.37:g.40065254T>A	ENSP00000253792:p.Ile202Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.I202F	ENST00000352035.2	37	c.604	CCDS11412.1	17	.	.	.	.	.	.	.	.	.	.	T	33	5.213769	0.95069	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000393896	T;T;T	0.73258	-0.73;-0.73;-0.73	5.73	5.73	0.89815	ATP-grasp fold, subdomain 2 (1);ATP-grasp fold, succinyl-CoA synthetase-type (1);	0.000000	0.85682	D	0.000000	D	0.85767	0.5773	M	0.84773	2.715	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.998;1.0;0.997	D	0.87987	0.2747	10	0.72032	D	0.01	.	16.007	0.80370	0.0:0.0:0.0:1.0	.	256;256;202;202	B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;ACLY_HUMAN	F	202;256;202;202	ENSP00000253792:I202F;ENSP00000345398:I202F;ENSP00000377474:I202F	ENSP00000253792:I202F	I	-	1	0	ACLY	37318780	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.037000	0.88933	2.180000	0.69256	0.460000	0.39030	ATC	ACLY	-	pfam_ATP-grasp_succ-CoA_synth-type,pirsf_ATP-citrate_synthase	ENSG00000131473		0.547	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	HGNC	protein_coding	OTTHUMT00000257465.1	141	0.00	0	T	NM_001096		40065254	40065254	-1	no_errors	ENST00000352035	ensembl	human	known	69_37n	missense	73	33.03	36	SNP	1.000	A
ADAL	161823	genome.wustl.edu	37	15	43641114	43641115	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr15:43641114_43641115insA	ENST00000562188.1	+	8	659_660	c.643_644insA	c.(643-645)caafs	p.Q215fs	ADAL_ENST00000389651.4_Frame_Shift_Ins_p.Q215fs|ADAL_ENST00000428046.3_Frame_Shift_Ins_p.Q188fs|ADAL_ENST00000422466.2_Frame_Shift_Ins_p.Q215fs			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	215					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GATTCCAAACCAAAAAAAAGAA	0.455																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.651dupA	15.37:g.43641122_43641122dupA	ENSP00000456242:p.Gln215fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHZ3|B4DQM8	Frame_Shift_Ins	INS	pfam_A/AMP_deaminase_dom	p.E218fs	ENST00000562188.1	37	c.643_644		15																																																																																			ADAL	-	pfam_A/AMP_deaminase_dom	ENSG00000168803		0.455	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ADAL	HGNC	protein_coding	OTTHUMT00000432960.1	122	0.00	0	-	XM_091156		43641114	43641115	+1	no_errors	ENST00000422466	ensembl	human	known	69_37n	frame_shift_ins	103	13.45	16	INS	0.942:0.853	A
AK7	122481	genome.wustl.edu	37	14	96871122	96871122	+	Missense_Mutation	SNP	G	G	A	rs373883064		TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr14:96871122G>A	ENST00000267584.4	+	3	367	c.323G>A	c.(322-324)cGc>cAc	p.R108H	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	108					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CTTCTCATGCGCCTGCTGGAG	0.433																																						dbGAP											0													93.0	87.0	89.0					14																	96871122		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.323G>A	14.37:g.96871122G>A	ENSP00000267584:p.Arg108His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYP6	Missense_Mutation	SNP	pfam_Dpy-30_motif,pfam_Adenylate_kin	p.R108H	ENST00000267584.4	37	c.323	CCDS9945.1	14	.	.	.	.	.	.	.	.	.	.	G	2.046	-0.418996	0.04766	.	.	ENSG00000140057	ENST00000267584	T	0.46451	0.87	5.35	-1.88	0.07713	.	0.693376	0.14912	N	0.291158	T	0.21145	0.0509	N	0.16098	0.37	0.19575	N	0.999968	B	0.02656	0.0	B	0.04013	0.001	T	0.27640	-1.0068	10	0.12430	T	0.62	-5.7225	11.7457	0.51819	0.4671:0.0:0.5329:0.0	.	108	Q96M32	KAD7_HUMAN	H	108	ENSP00000267584:R108H	ENSP00000267584:R108H	R	+	2	0	AK7	95940875	0.000000	0.05858	0.003000	0.11579	0.155000	0.21991	-0.006000	0.12833	-0.217000	0.10033	0.467000	0.42956	CGC	AK7	-	NULL	ENSG00000140057		0.433	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	HGNC	protein_coding	OTTHUMT00000413340.1	159	0.00	0	G			96871122	96871122	+1	no_errors	ENST00000267584	ensembl	human	known	69_37n	missense	127	10.56	15	SNP	0.007	A
ATE1	11101	genome.wustl.edu	37	10	123687371	123687372	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr10:123687371_123687372insG	ENST00000224652.6	-	1	178_179	c.93_94insC	c.(91-96)ggcagcfs	p.S32fs	ATE1_ENST00000543447.1_5'UTR|ATE1_ENST00000369040.3_5'UTR|ATE1_ENST00000369043.3_Frame_Shift_Ins_p.S32fs|RP11-500G22.2_ENST00000437593.1_RNA|ATE1_ENST00000540606.1_Intron|ATE1_ENST00000535655.1_Intron	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	32					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TTGGAGCGGCTGCCCGACTCGT	0.718																																						dbGAP											0									,	130,3924		4,122,1901					,	4.7	1.0			8	324,7508		28,268,3620	no	frameshift,frameshift	ATE1	NM_007041.2,NM_001001976.1	,	32,390,5521	A1A1,A1R,RR		4.1369,3.2067,3.8196	,	,		454,11432				-	-	-	SO:0001589	frameshift_variant	0			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.94dupC	10.37:g.123687372_123687372dupG	ENSP00000224652:p.Ser32fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O95261|Q5SQQ3|Q8WW04	Frame_Shift_Ins	INS	pfam_Arg-tRNA-P_Trfase_C,pfam_Arg_tRNA_PTrfase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk	p.S31fs	ENST00000224652.6	37	c.94_93	CCDS31300.1	10																																																																																			ATE1	-	pfam_Arg_tRNA_PTrfase_N,pirsf_Arg-tRNA-P_Trfase_1_euk	ENSG00000107669		0.718	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATE1	HGNC	protein_coding		9	0.00	0	-	NM_001001976		123687371	123687372	-1	no_errors	ENST00000224652	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:1.000	G
C16orf47	388289	genome.wustl.edu	37	16	73164976	73164976	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr16:73164976G>T	ENST00000358463.2	-	3	235	c.48C>A	c.(46-48)caC>caA	p.H16Q		NM_207385.1	NP_997268.1	Q6ZP98	CP047_HUMAN	chromosome 16 open reading frame 47	16																	taacttctttgtgtctcagct	0.463																																						dbGAP											0													177.0	176.0	176.0					16																	73164976		692	1591	2283	-	-	-	SO:0001583	missense	0			AK129695		16q22.3	2012-10-09			ENSG00000197445	ENSG00000197445			28329	protein-coding gene	gene with protein product							Standard	NM_207385		Approved	FLJ26184		Q6ZP98	OTTHUMG00000137600	ENST00000358463.2:c.48C>A	16.37:g.73164976G>T	ENSP00000351248:p.His16Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.H16Q	ENST00000358463.2	37	c.48		16	.	.	.	.	.	.	.	.	.	.	G	6.646	0.487602	0.12641	.	.	ENSG00000197445	ENST00000358463	.	.	.	2.75	-1.78	0.07957	.	.	.	.	.	T	0.26774	0.0655	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36432	-0.9748	5	0.87932	D	0	.	0.4547	0.00507	0.261:0.1952:0.3449:0.1989	.	.	.	.	Q	16	.	ENSP00000351248:H16Q	H	-	3	2	C16orf47	71722477	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.947000	0.03901	-0.366000	0.08064	0.561000	0.74099	CAC	C16orf47	-	NULL	ENSG00000197445		0.463	C16orf47-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	C16orf47	HGNC	protein_coding	OTTHUMT00000269009.1	354	0.00	0	G			73164976	73164976	-1	no_errors	ENST00000358463	ensembl	human	known	69_37n	missense	274	16.21	53	SNP	0.000	T
CCDC37	348807	genome.wustl.edu	37	3	126153123	126153123	+	Silent	SNP	C	C	T			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr3:126153123C>T	ENST00000352312.1	+	15	1626	c.1527C>T	c.(1525-1527)atC>atT	p.I509I	CCDC37_ENST00000506204.1_3'UTR|CCDC37_ENST00000505024.1_Silent_p.I510I|CCDC37_ENST00000393425.1_Silent_p.I510I	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	509										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TGCTGACCATCATTGAGCACC	0.612																																						dbGAP											0													70.0	64.0	66.0					3																	126153123		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1527C>T	3.37:g.126153123C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	superfamily_SuperAg_toxin_C_Staph/Strep	p.I510	ENST00000352312.1	37	c.1530	CCDS3037.1	3																																																																																			CCDC37	-	NULL	ENSG00000163885		0.612	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	25	0.00	0	C	NM_182628		126153123	126153123	+1	no_errors	ENST00000393425	ensembl	human	known	69_37n	silent	12	33.33	6	SNP	0.076	T
CDH6	1004	genome.wustl.edu	37	5	31294332	31294332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr5:31294332C>A	ENST00000265071.2	+	3	757	c.492C>A	c.(490-492)taC>taA	p.Y164*	CDH6_ENST00000514738.1_Nonsense_Mutation_p.Y109*	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	164	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGGAGGTTTACACAGCCACTG	0.483																																						dbGAP											0													135.0	134.0	134.0					5																	31294332		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.492C>A	5.37:g.31294332C>A	ENSP00000265071:p.Tyr164*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5H5|Q9BWS0	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y164*	ENST00000265071.2	37	c.492	CCDS3894.1	5	.	.	.	.	.	.	.	.	.	.	C	39	7.591019	0.98378	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	.	.	.	5.77	3.05	0.35203	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2366	0.48944	0.0:0.8017:0.0:0.1983	.	.	.	.	X	109;164	.	ENSP00000265071:Y164X	Y	+	3	2	CDH6	31330089	0.977000	0.34250	0.994000	0.49952	0.354000	0.29330	1.282000	0.33226	0.459000	0.27016	-0.140000	0.14226	TAC	CDH6	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000113361		0.483	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	69	0.00	0	C	NM_004932		31294332	31294332	+1	no_errors	ENST00000265071	ensembl	human	known	69_37n	nonsense	61	20.78	16	SNP	1.000	A
DAAM2	23500	genome.wustl.edu	37	6	39847226	39847226	+	Silent	SNP	G	G	A			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr6:39847226G>A	ENST00000398904.2	+	14	2000	c.1818G>A	c.(1816-1818)aaG>aaA	p.K606K	RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000274867.4_Silent_p.K606K|DAAM2_ENST00000538976.1_Silent_p.K606K			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	606	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACCCACTGAAGTCCTTCAACT	0.627																																						dbGAP											0													76.0	78.0	78.0					6																	39847226		1962	4122	6084	-	-	-	SO:0001819	synonymous_variant	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1818G>A	6.37:g.39847226G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.K606	ENST00000398904.2	37	c.1818	CCDS56426.1	6																																																																																			DAAM2	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000146122		0.627	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	85	0.00	0	G			39847226	39847226	+1	no_errors	ENST00000274867	ensembl	human	known	69_37n	silent	34	32.00	16	SNP	1.000	A
DCLK1	9201	genome.wustl.edu	37	13	36700097	36700097	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr13:36700097G>A	ENST00000360631.3	-	2	389	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	DCLK1_ENST00000379892.4_Missense_Mutation_p.R60C|DCLK1_ENST00000255448.4_Missense_Mutation_p.R60C			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	60	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CGATAGAAACGAACTTTCTTG	0.582																																						dbGAP											0													93.0	84.0	87.0					13																	36700097		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.178C>T	13.37:g.36700097G>A	ENSP00000353846:p.Arg60Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom	p.R60C	ENST00000360631.3	37	c.178		13	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980747	0.74474	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.86865	-2.18;-2.18;-2.18	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.92782	0.7705	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.92499	0.6007	10	0.56958	D	0.05	.	19.7606	0.96314	0.0:0.0:1.0:0.0	.	60	O15075-2	.	C	60	ENSP00000255448:R60C;ENSP00000353846:R60C;ENSP00000369222:R60C	ENSP00000255448:R60C	R	-	1	0	DCLK1	35598097	1.000000	0.71417	0.988000	0.46212	0.816000	0.46133	9.643000	0.98464	2.671000	0.90904	0.650000	0.86243	CGT	DCLK1	-	superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	ENSG00000133083		0.582	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	77	0.00	0	G	NM_004734		36700097	36700097	-1	no_errors	ENST00000360631	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	1.000	A
DLC1	10395	genome.wustl.edu	37	8	13357027	13357027	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr8:13357027T>C	ENST00000276297.4	-	2	963	c.554A>G	c.(553-555)gAc>gGc	p.D185G	DLC1_ENST00000511869.1_Missense_Mutation_p.D185G|DLC1_ENST00000316609.5_Missense_Mutation_p.D185G	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	185					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ACTTATAGAGTCAGTAACTTT	0.378																																						dbGAP											0													118.0	123.0	121.0					8																	13357027		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.554A>G	8.37:g.13357027T>C	ENSP00000276297:p.Asp185Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.D185G	ENST00000276297.4	37	c.554	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	T	8.151	0.787325	0.16258	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.28666	1.6;1.6;1.6	5.12	1.51	0.23008	.	0.454923	0.18635	N	0.135479	T	0.18087	0.0434	L	0.28192	0.835	0.09310	N	1	B;B;B	0.21606	0.001;0.058;0.0	B;B;B	0.20184	0.0;0.028;0.001	T	0.20405	-1.0276	10	0.23891	T	0.37	.	7.768	0.28991	0.0:0.4008:0.0:0.5992	.	185;185;185	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	G	185	ENSP00000276297:D185G;ENSP00000321034:D185G;ENSP00000425878:D185G	ENSP00000276297:D185G	D	-	2	0	DLC1	13401398	0.068000	0.21057	0.033000	0.17914	0.027000	0.11550	0.934000	0.28910	0.493000	0.27837	-0.264000	0.10439	GAC	DLC1	-	NULL	ENSG00000164741		0.378	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	183	0.00	0	T	NM_182643, NM_006094		13357027	13357027	-1	no_errors	ENST00000276297	ensembl	human	known	69_37n	missense	52	27.78	20	SNP	0.042	C
EMR1	2015	genome.wustl.edu	37	19	6919734	6919734	+	Silent	SNP	C	C	T			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr19:6919734C>T	ENST00000312053.4	+	13	1633	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	EMR1_ENST00000250572.8_Silent_p.I532I|EMR1_ENST00000381404.4_Silent_p.I480I|EMR1_ENST00000381407.5_Silent_p.I391I|EMR1_ENST00000450315.3_Silent_p.I355I	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	532	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CAGATCCAATCATCTACACTC	0.473																																						dbGAP											0													86.0	78.0	80.0					19																	6919734		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1596C>T	19.37:g.6919734C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.I532	ENST00000312053.4	37	c.1596	CCDS12175.1	19																																																																																			EMR1	-	NULL	ENSG00000174837		0.473	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	156	0.00	0	C			6919734	6919734	+1	no_errors	ENST00000312053	ensembl	human	known	69_37n	silent	79	22.55	23	SNP	0.001	T
IDH3A	3419	genome.wustl.edu	37	15	78453949	78453949	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr15:78453949G>A	ENST00000299518.2	+	5	399	c.316G>A	c.(316-318)Ggt>Agt	p.G106S	IDH3A_ENST00000561366.1_5'Flank|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Intron|IDH3A_ENST00000441490.2_5'UTR	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	106					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						AATAGCAGCCGGTCACCCATC	0.473																																						dbGAP											0													117.0	107.0	111.0					15																	78453949		2196	4293	6489	-	-	-	SO:0001583	missense	0				CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.316G>A	15.37:g.78453949G>A	ENSP00000299518:p.Gly106Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW83|Q9H3X0	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.G106S	ENST00000299518.2	37	c.316	CCDS10297.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.953098	0.97139	.	.	ENSG00000166411	ENST00000299518	T	0.56776	0.44	6.02	6.02	0.97574	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76460	-0.2951	10	0.87932	D	0	-20.7209	19.5254	0.95203	0.0:0.0:1.0:0.0	.	106	P50213	IDH3A_HUMAN	S	106	ENSP00000299518:G106S	ENSP00000299518:G106S	G	+	1	0	IDH3A	76241004	1.000000	0.71417	0.926000	0.36857	0.956000	0.61745	9.594000	0.98254	2.857000	0.98124	0.650000	0.86243	GGT	IDH3A	-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	ENSG00000166411		0.473	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3A	HGNC	protein_coding	OTTHUMT00000289799.4	225	0.00	0	G	NM_005530		78453949	78453949	+1	no_errors	ENST00000299518	ensembl	human	known	69_37n	missense	144	23.40	44	SNP	1.000	A
IGSF8	93185	genome.wustl.edu	37	1	160063723	160063723	+	Silent	SNP	G	G	C			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr1:160063723G>C	ENST00000368086.1	-	3	897	c.681C>G	c.(679-681)gcC>gcG	p.A227A	IGSF8_ENST00000314485.7_Silent_p.A227A|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	227	Ig-like C2-type 2.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAGCCTCCACGGCCAAGTCTG	0.627																																						dbGAP											0													82.0	76.0	78.0					1																	160063723		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.681C>G	1.37:g.160063723G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NG09|Q96DP4|Q9BTG9	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.A227	ENST00000368086.1	37	c.681	CCDS1195.1	1																																																																																			IGSF8	-	smart_Ig_sub	ENSG00000162729		0.627	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF8	HGNC	protein_coding	OTTHUMT00000060636.1	48	0.00	0	G	NM_052868		160063723	160063723	-1	no_errors	ENST00000314485	ensembl	human	known	69_37n	silent	52	15.87	10	SNP	0.021	C
ITPR3	3710	genome.wustl.edu	37	6	33653896	33653896	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr6:33653896G>A	ENST00000374316.5	+	43	6794	c.5734G>A	c.(5734-5736)Gac>Aac	p.D1912N	ITPR3_ENST00000605930.1_Missense_Mutation_p.D1912N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1912					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCAGTTCCTGGACATCATGTG	0.592																																						dbGAP											0													66.0	58.0	60.0					6																	33653896		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5734G>A	6.37:g.33653896G>A	ENSP00000363435:p.Asp1912Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14649|Q5TAQ2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.D1912N	ENST00000374316.5	37	c.5734	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.605650	0.96626	.	.	ENSG00000096433	ENST00000374316	D	0.95205	-3.64	4.82	4.82	0.62117	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	D	0.97476	0.9174	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98457	1.0594	10	0.87932	D	0	-43.9944	17.5201	0.87784	0.0:0.0:1.0:0.0	.	1912	Q14573	ITPR3_HUMAN	N	1912	ENSP00000363435:D1912N	ENSP00000363435:D1912N	D	+	1	0	ITPR3	33761874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.227000	0.72691	0.467000	0.42956	GAC	ITPR3	-	pfam_RIH_assoc-dom,superfamily_ARM-type_fold	ENSG00000096433		0.592	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	48	0.00	0	G	NM_002224		33653896	33653896	+1	no_errors	ENST00000374316	ensembl	human	known	69_37n	missense	42	22.22	12	SNP	1.000	A
KAT6B	23522	genome.wustl.edu	37	10	76788710	76788710	+	Silent	SNP	A	A	G			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr10:76788710A>G	ENST00000287239.4	+	18	4617	c.4128A>G	c.(4126-4128)ggA>ggG	p.G1376G	KAT6B_ENST00000372714.1_Silent_p.G1084G|KAT6B_ENST00000372724.1_Silent_p.G1084G|KAT6B_ENST00000372711.1_Silent_p.G1193G|KAT6B_ENST00000372725.1_Silent_p.G1084G	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1376					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										aaggaggaggaaatgtagaaa	0.453																																						dbGAP											0													54.0	52.0	53.0					10																	76788710		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4128A>G	10.37:g.76788710A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G1376	ENST00000287239.4	37	c.4128	CCDS7345.1	10																																																																																			KAT6B	-	NULL	ENSG00000156650		0.453	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	117	0.00	0	A	NM_012330		76788710	76788710	+1	no_errors	ENST00000287239	ensembl	human	known	69_37n	silent	74	21.28	20	SNP	0.002	G
KDM2A	22992	genome.wustl.edu	37	11	67020978	67020978	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr11:67020978G>A	ENST00000529006.2	+	19	3433	c.2987G>A	c.(2986-2988)aGc>aAc	p.S996N	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.S557N|KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.S454N	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	996					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TCTGCCCTCAGCACCTCCAGC	0.532																																						dbGAP											0													128.0	132.0	131.0					11																	67020978		1995	4164	6159	-	-	-	SO:0001583	missense	0			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2987G>A	11.37:g.67020978G>A	ENSP00000432786:p.Ser996Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.S996N	ENST00000529006.2	37	c.2987	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029486	0.93518	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000308783	T;T;T	0.29917	1.55;1.55;1.55	4.98	4.98	0.66077	.	0.121890	0.85682	D	0.000000	T	0.16811	0.0404	N	0.05306	-0.075	0.50039	D	0.999844	B;P;P	0.49185	0.076;0.828;0.92	B;B;B	0.41036	0.029;0.221;0.346	T	0.08534	-1.0717	10	0.11794	T	0.64	-14.6635	18.4487	0.90695	0.0:0.0:1.0:0.0	.	557;454;996	E9PIL6;D4QA03;Q9Y2K7	.;.;KDM2A_HUMAN	N	996;557;454	ENSP00000432786:S996N;ENSP00000435776:S557N;ENSP00000309302:S454N	ENSP00000309302:S454N	S	+	2	0	KDM2A	66777554	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.623000	0.98386	2.580000	0.87095	0.650000	0.86243	AGC	KDM2A	-	NULL	ENSG00000173120		0.532	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	107	0.00	0	G	NM_012308		67020978	67020978	+1	no_errors	ENST00000529006	ensembl	human	known	69_37n	missense	75	20.21	19	SNP	1.000	A
CEMIP	57214	genome.wustl.edu	37	15	81221455	81221455	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr15:81221455A>G	ENST00000394685.3	+	21	2971	c.2552A>G	c.(2551-2553)gAc>gGc	p.D851G	KIAA1199_ENST00000220244.3_Missense_Mutation_p.D851G|KIAA1199_ENST00000356249.5_Missense_Mutation_p.D851G|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		851					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAAATGATGGACAATAGGATC	0.532																																						dbGAP											0													140.0	131.0	134.0					15																	81221455		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000394685.3:c.2552A>G	15.37:g.81221455A>G	ENSP00000378177:p.Asp851Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.D851G	ENST00000394685.3	37	c.2552	CCDS10315.1	15	.	.	.	.	.	.	.	.	.	.	A	14.79	2.641605	0.47153	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.55052	0.54;0.54;0.54	4.87	4.87	0.63330	Pectin lyase fold/virulence factor (1);	0.119887	0.53938	D	0.000042	T	0.46249	0.1383	N	0.15975	0.35	0.42581	D	0.993211	D	0.62365	0.991	P	0.53593	0.73	T	0.38779	-0.9645	10	0.21540	T	0.41	-40.4042	14.6525	0.68808	1.0:0.0:0.0:0.0	.	851	Q8WUJ3	K1199_HUMAN	G	851	ENSP00000220244:D851G;ENSP00000378177:D851G;ENSP00000348583:D851G	ENSP00000220244:D851G	D	+	2	0	KIAA1199	79008510	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.492000	0.53259	2.038000	0.60285	0.533000	0.62120	GAC	KIAA1199	-	superfamily_Pectin_lyase_fold/virulence	ENSG00000103888		0.532	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1199	HGNC	protein_coding	OTTHUMT00000291389.1	273	0.00	0	A			81221455	81221455	+1	no_errors	ENST00000220244	ensembl	human	known	69_37n	missense	201	19.28	48	SNP	1.000	G
LRP1	4035	genome.wustl.edu	37	12	57602874	57602874	+	Missense_Mutation	SNP	G	G	A	rs548671555		TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr12:57602874G>A	ENST00000243077.3	+	79	12620	c.12154G>A	c.(12154-12156)Gtg>Atg	p.V4052M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4052					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGGCCTGGCCGTGGATTATCA	0.622																																						dbGAP											0													78.0	62.0	67.0					12																	57602874		2203	4300	6503	-	-	-	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12154G>A	12.37:g.57602874G>A	ENSP00000243077:p.Val4052Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.V4052M	ENST00000243077.3	37	c.12154	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951891	0.73787	.	.	ENSG00000123384	ENST00000243077	D	0.97959	-4.63	4.94	4.94	0.65067	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000008	D	0.98188	0.9401	L	0.53729	1.69	0.48452	D	0.999657	D	0.89917	1.0	D	0.91635	0.999	D	0.99372	1.0920	10	0.87932	D	0	.	17.0928	0.86627	0.0:0.0:1.0:0.0	.	4052	Q07954	LRP1_HUMAN	M	4052	ENSP00000243077:V4052M	ENSP00000243077:V4052M	V	+	1	0	LRP1	55889141	1.000000	0.71417	0.959000	0.39883	0.780000	0.44128	7.517000	0.81783	2.584000	0.87258	0.462000	0.41574	GTG	LRP1	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000123384		0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	41	0.00	0	G	NM_002332		57602874	57602874	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	missense	29	14.71	5	SNP	1.000	A
MAP1A	4130	genome.wustl.edu	37	15	43817021	43817021	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr15:43817021C>T	ENST00000300231.5	+	4	3800	c.3350C>T	c.(3349-3351)gCc>gTc	p.A1117V	MAP1A_ENST00000382031.1_Missense_Mutation_p.A1355V|MAP1A_ENST00000399453.1_Missense_Mutation_p.A1117V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1117					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAGCAGAAGCCCTTCCCGGA	0.512																																						dbGAP											0													70.0	74.0	73.0					15																	43817021		1915	4119	6034	-	-	-	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3350C>T	15.37:g.43817021C>T	ENSP00000300231:p.Ala1117Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.A1117V	ENST00000300231.5	37	c.3350	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	C	3.670	-0.067761	0.07228	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01538	4.79;4.79;4.79	5.31	1.35	0.21983	.	1.106250	0.07152	N	0.849225	T	0.02267	0.0070	L	0.50919	1.6	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.50048	-0.8873	10	0.22706	T	0.39	-0.4216	5.6793	0.17765	0.0:0.5552:0.133:0.3118	.	1117	P78559	MAP1A_HUMAN	V	1355;1117;1117	ENSP00000371462:A1355V;ENSP00000382380:A1117V;ENSP00000300231:A1117V	ENSP00000300231:A1117V	A	+	2	0	MAP1A	41604313	0.000000	0.05858	0.004000	0.12327	0.709000	0.40893	0.104000	0.15313	0.106000	0.17784	-0.136000	0.14681	GCC	MAP1A	-	NULL	ENSG00000166963		0.512	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	45	0.00	0	C	NM_002373		43817021	43817021	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	missense	22	18.52	5	SNP	0.000	T
MYO3A	53904	genome.wustl.edu	37	10	26463156	26463156	+	Silent	SNP	A	A	G			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr10:26463156A>G	ENST00000265944.5	+	30	4129	c.3963A>G	c.(3961-3963)gaA>gaG	p.E1321E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1321					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCCAGGAGGAAGGCAGAGGCC	0.473																																						dbGAP											0													124.0	131.0	129.0					10																	26463156		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3963A>G	10.37:g.26463156A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.E1321	ENST00000265944.5	37	c.3963	CCDS7148.1	10																																																																																			MYO3A	-	NULL	ENSG00000095777		0.473	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	223	0.00	0	A	NM_017433		26463156	26463156	+1	no_errors	ENST00000265944	ensembl	human	known	69_37n	silent	141	26.94	52	SNP	0.003	G
NEB	4703	genome.wustl.edu	37	2	152573967	152573967	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr2:152573967A>G	ENST00000172853.10	-	10	932	c.785T>C	c.(784-786)aTa>aCa	p.I262T	NEB_ENST00000397345.3_Missense_Mutation_p.I262T|NEB_ENST00000604864.1_Missense_Mutation_p.I262T|NEB_ENST00000409198.1_Missense_Mutation_p.I262T|NEB_ENST00000427231.2_Missense_Mutation_p.I262T|NEB_ENST00000603639.1_Missense_Mutation_p.I262T			P20929	NEBU_HUMAN	nebulin	262					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGCAAATTCTATATCTGGAGG	0.403																																						dbGAP											0													134.0	119.0	124.0					2																	152573967		1876	4109	5985	-	-	-	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.785T>C	2.37:g.152573967A>G	ENSP00000172853:p.Ile262Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.I262T	ENST00000172853.10	37	c.785		2	.	.	.	.	.	.	.	.	.	.	A	16.90	3.249209	0.59103	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.76	5.76	0.90799	.	0.119853	0.56097	D	0.000033	T	0.47432	0.1445	L	0.48642	1.525	0.80722	D	1	P	0.34699	0.464	B	0.39935	0.314	T	0.43065	-0.9414	10	0.39692	T	0.17	.	15.0485	0.71846	1.0:0.0:0.0:0.0	.	262	P20929	NEBU_HUMAN	T	262	ENSP00000386259:I262T;ENSP00000380505:I262T;ENSP00000416578:I262T;ENSP00000172853:I262T	ENSP00000172853:I262T	I	-	2	0	NEB	152282213	1.000000	0.71417	0.969000	0.41365	0.947000	0.59692	8.077000	0.89505	2.209000	0.71365	0.533000	0.62120	ATA	NEB	-	pfam_Nebulin_35r-motif,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.403	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		443	0.00	0	A	NM_004543		152573967	152573967	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	missense	300	22.28	86	SNP	0.999	G
OR2G3	81469	genome.wustl.edu	37	1	247769043	247769043	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr1:247769043T>G	ENST00000320002.2	+	1	188	c.156T>G	c.(154-156)gaT>gaG	p.D52E	RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATATCTGGATCCCCCTCTTC	0.453																																						dbGAP											0													272.0	266.0	268.0					1																	247769043		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.156T>G	1.37:g.247769043T>G	ENSP00000326301:p.Asp52Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.D52E	ENST00000320002.2	37	c.156	CCDS31093.1	1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.246166	0.22796	.	.	ENSG00000177476	ENST00000320002	T	0.02709	4.19	3.57	-7.13	0.01532	GPCR, rhodopsin-like superfamily (1);	0.195513	0.23680	U	0.045640	T	0.03095	0.0091	M	0.70903	2.155	0.09310	N	1	B	0.25667	0.131	B	0.25987	0.065	T	0.18398	-1.0338	10	0.62326	D	0.03	.	5.3123	0.15837	0.1129:0.5065:0.1144:0.2661	.	52	Q8NGZ4	OR2G3_HUMAN	E	52	ENSP00000326301:D52E	ENSP00000326301:D52E	D	+	3	2	OR2G3	245835666	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-3.291000	0.00524	-2.054000	0.00900	0.398000	0.26397	GAT	OR2G3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177476		0.453	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G3	HGNC	protein_coding	OTTHUMT00000097624.1	533	0.00	0	T			247769043	247769043	+1	no_errors	ENST00000320002	ensembl	human	known	69_37n	missense	335	54.14	399	SNP	0.000	G
PAK3	5063	genome.wustl.edu	37	X	110366476	110366476	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chrX:110366476C>T	ENST00000372010.1	+	5	587	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	PAK3_ENST00000262836.4_Missense_Mutation_p.R49C|PAK3_ENST00000518291.1_Missense_Mutation_p.R49C|PAK3_ENST00000446737.1_Missense_Mutation_p.R49C|PAK3_ENST00000417227.1_Missense_Mutation_p.R49C|PAK3_ENST00000360648.4_Missense_Mutation_p.R49C|PAK3_ENST00000425146.1_Missense_Mutation_p.R49C|PAK3_ENST00000519681.1_Missense_Mutation_p.R49C|PAK3_ENST00000372007.5_Missense_Mutation_p.R49C			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	49					activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGCCAGGCTTCGCTCTATCTT	0.448										TSP Lung(19;0.15)																												dbGAP											0													89.0	87.0	88.0					X																	110366476		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.145C>T	X.37:g.110366476C>T	ENSP00000361080:p.Arg49Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.R49C	ENST00000372010.1	37	c.145	CCDS48153.1	X	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105079	0.77096	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.64;-0.63;-0.66;-0.61;-0.61;-0.63;-0.64	5.39	5.39	0.77823	.	0.118708	0.64402	D	0.000018	T	0.79341	0.4429	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.60160	0.973;0.987;0.978;0.976	P;P;P;P	0.57776	0.781;0.827;0.608;0.707	T	0.78347	-0.2239	10	0.39692	T	0.17	.	18.4314	0.90627	0.0:1.0:0.0:0.0	.	49;49;49;49	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	C	49	ENSP00000410853:R49C;ENSP00000401982:R49C;ENSP00000361080:R49C;ENSP00000429113:R49C;ENSP00000361077:R49C;ENSP00000428921:R49C;ENSP00000353864:R49C;ENSP00000389172:R49C;ENSP00000262836:R49C	ENSP00000262836:R49C	R	+	1	0	PAK3	110253132	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.228000	0.78079	2.380000	0.81148	0.600000	0.82982	CGC	PAK3	-	NULL	ENSG00000077264		0.448	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAK3	HGNC	protein_coding	OTTHUMT00000057918.1	322	0.00	0	C	NM_002578		110366476	110366476	+1	no_errors	ENST00000360648	ensembl	human	known	69_37n	missense	191	21.72	53	SNP	1.000	T
PANX1	24145	genome.wustl.edu	37	11	93913090	93913090	+	Missense_Mutation	SNP	G	G	T	rs372103195		TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr11:93913090G>T	ENST00000227638.3	+	4	1253	c.868G>T	c.(868-870)Gtg>Ttg	p.V290L	PANX1_ENST00000436171.2_Missense_Mutation_p.V290L	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	290					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	GCTGGCTCCCGTGGTTGTCTA	0.478																																						dbGAP											0													247.0	213.0	225.0					11																	93913090		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.868G>T	11.37:g.93913090G>T	ENSP00000227638:p.Val290Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	pfam_Innexin,pfscan_Innexin	p.V290L	ENST00000227638.3	37	c.868	CCDS8296.1	11	.	.	.	.	.	.	.	.	.	.	G	1.016	-0.686435	0.03328	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.18657	2.21;2.2	5.52	1.32	0.21799	.	0.325011	0.32703	N	0.005755	T	0.15392	0.0371	L	0.55103	1.725	0.09310	N	0.999996	B;B	0.09022	0.002;0.001	B;B	0.08055	0.001;0.003	T	0.26258	-1.0108	10	0.19147	T	0.46	-22.1061	5.2293	0.15412	0.0697:0.3906:0.3227:0.217	.	290;290	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	L	290	ENSP00000227638:V290L;ENSP00000411461:V290L	ENSP00000227638:V290L	V	+	1	0	PANX1	93552738	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.208000	0.09371	0.242000	0.21303	0.655000	0.94253	GTG	PANX1	-	pfscan_Innexin	ENSG00000110218		0.478	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PANX1	HGNC	protein_coding	OTTHUMT00000396121.1	281	0.00	0	G	NM_015368		93913090	93913090	+1	no_errors	ENST00000227638	ensembl	human	known	69_37n	missense	213	19.92	53	SNP	0.001	T
PFKL	5211	genome.wustl.edu	37	21	45742920	45742920	+	Silent	SNP	C	C	T	rs550842823		TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr21:45742920C>T	ENST00000349048.4	+	15	1540	c.1485C>T	c.(1483-1485)gtC>gtT	p.V495V	PFKL_ENST00000403390.1_Silent_p.V542V	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	495	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TGCTGGTGGTCGGTGGGTTTG	0.612													c|||	1	0.000199681	0.0	0.0	5008	,	,		15325	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													143.0	109.0	120.0					21																	45742920		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1485C>T	21.37:g.45742920C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96A64|Q96IH4|Q9BR91	Silent	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.V542	ENST00000349048.4	37	c.1626	CCDS33582.1	21																																																																																			PFKL	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk	ENSG00000141959		0.612	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKL	HGNC	protein_coding	OTTHUMT00000195805.1	83	0.00	0	C			45742920	45742920	+1	no_errors	ENST00000403390	ensembl	human	known	69_37n	silent	102	15.00	18	SNP	0.985	T
PIWIL3	440822	genome.wustl.edu	37	22	25115535	25115535	+	Silent	SNP	C	C	T			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr22:25115535C>T	ENST00000332271.5	-	21	2969	c.2553G>A	c.(2551-2553)gcG>gcA	p.A851A	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.A733A|PIWIL3_ENST00000527701.1_Silent_p.A733A	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	851	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGTGGCAAGGCGCTGGAACTC	0.433																																						dbGAP											0													103.0	95.0	98.0					22																	25115535		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2553G>A	22.37:g.25115535C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.A851	ENST00000332271.5	37	c.2553	CCDS33623.1	22																																																																																			PIWIL3	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi	ENSG00000184571		0.433	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	HGNC	protein_coding	OTTHUMT00000320084.2	96	0.00	0	C	NM_001008496		25115535	25115535	-1	no_errors	ENST00000332271	ensembl	human	known	69_37n	silent	97	17.09	20	SNP	0.991	T
PITPNB	23760	genome.wustl.edu	37	22	28293118	28293118	+	Splice_Site	SNP	C	C	T			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr22:28293118C>T	ENST00000335272.5	-	5	373	c.297G>A	c.(295-297)acG>acA	p.T99T	PITPNB_ENST00000320996.10_Splice_Site_p.T99T|PITPNB_ENST00000455418.3_Splice_Site_p.T101T	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	99					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)			large_intestine(4)|lung(3)|skin(1)	8						TTTTACTCACCGTTACAACTG	0.328																																						dbGAP											0													121.0	131.0	128.0					22																	28293118		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976	ENST00000335272.5:c.297+1G>A	22.37:g.28293118C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KYB8|B7Z7Q0|Q8N5W1	Silent	SNP	pfam_PI_transfer,prints_PI_transfer	p.T101	ENST00000335272.5	37	c.303	CCDS13842.1	22																																																																																			PITPNB	-	pfam_PI_transfer,prints_PI_transfer	ENSG00000180957		0.328	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITPNB	HGNC	protein_coding	OTTHUMT00000320740.1	269	0.00	0	C		Silent	28293118	28293118	-1	no_errors	ENST00000455418	ensembl	human	known	69_37n	silent	279	18.42	63	SNP	1.000	T
PRAMEF11	440560	genome.wustl.edu	37	1	12887489	12887489	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr1:12887489T>C	ENST00000535591.1	-	3	563	c.368A>G	c.(367-369)tAc>tGc	p.Y123C		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	123					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCAGGTGAGGTATTCATCCAG	0.473																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.368A>G	1.37:g.12887489T>C	ENSP00000439551:p.Tyr123Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.Y123C	ENST00000535591.1	37	c.368	CCDS53268.1	1	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.544012	0.00934	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.05025	3.51;3.51	1.48	-1.7	0.08159	.	0.307559	0.30940	N	0.008569	T	0.01454	0.0047	N	0.00864	-1.135	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.43523	-0.9386	10	0.22109	T	0.4	.	4.3786	0.11283	0.3833:0.0:0.0:0.6167	.	123	O60813	PRA11_HUMAN	C	123;164;123	ENSP00000439551:Y123C;ENSP00000391839:Y123C	ENSP00000328783:Y164C	Y	-	2	0	PRAMEF11	12810076	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.895000	0.01606	-0.455000	0.07054	-0.910000	0.02820	TAC	PRAMEF11	-	NULL	ENSG00000204513		0.473	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	HGNC	protein_coding		188	0.00	0	T	XM_496341		12887489	12887489	-1	no_errors	ENST00000535591	ensembl	human	known	69_37n	missense	138	24.19	45	SNP	0.000	C
RAB43	339122	genome.wustl.edu	37	3	128810076	128810076	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr3:128810076T>C	ENST00000315150.5	-	3	802	c.502A>G	c.(502-504)Aac>Gac	p.N168D	RAB43_ENST00000393307.1_Missense_Mutation_p.N168D|RAB43_ENST00000393305.1_Missense_Mutation_p.N168D|RAB43_ENST00000393308.1_Missense_Mutation_p.N168D|RAB43_ENST00000393304.1_Missense_Mutation_p.N168D|RAB43_ENST00000476465.1_3'UTR|ISY1-RAB43_ENST00000418265.1_3'UTR	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	168					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.N168fs*7(1)		kidney(2)|liver(1)|lung(2)|skin(1)	6						TCCTCCACGTTGCTCGAGTCC	0.622																																						dbGAP											1	Deletion - Frameshift(1)	lung(1)											16.0	15.0	16.0					3																	128810076		2201	4273	6474	-	-	-	SO:0001583	missense	0			AY166852	CCDS33850.1, CCDS56275.1	3q21.3	2010-03-30			ENSG00000172780	ENSG00000172780		"""RAB, member RAS oncogene"""	19983	protein-coding gene	gene with protein product						15018353	Standard	NM_198490		Approved	RAB41, RAB11B, ISY1	uc021xdp.1	Q86YS6	OTTHUMG00000137364	ENST00000315150.5:c.502A>G	3.37:g.128810076T>C	ENSP00000319781:p.Asn168Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4P9|E9PBQ0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.N168D	ENST00000315150.5	37	c.502	CCDS33850.1	3	.	.	.	.	.	.	.	.	.	.	T	21.2	4.107236	0.77096	.	.	ENSG00000172780	ENST00000315150;ENST00000393304;ENST00000393308;ENST00000393307;ENST00000393305	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	4.98	4.98	0.66077	Small GTP-binding protein domain (1);	.	.	.	.	D	0.87637	0.6227	H	0.95224	3.64	0.80722	D	1	P	0.38078	0.617	B	0.36567	0.228	D	0.90163	0.4229	9	0.87932	D	0	.	12.8914	0.58073	0.0:0.0:0.0:1.0	.	168	Q86YS6	RAB43_HUMAN	D	168	ENSP00000319781:N168D;ENSP00000376981:N168D;ENSP00000376985:N168D;ENSP00000376984:N168D;ENSP00000376982:N168D	ENSP00000319781:N168D	N	-	1	0	RAB43	130292766	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.089000	0.71384	1.994000	0.58287	0.402000	0.26972	AAC	RAB43	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000172780		0.622	RAB43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB43	HGNC	protein_coding	OTTHUMT00000267849.1	17	0.00	0	T	XM_290714		128810076	128810076	-1	no_errors	ENST00000315150	ensembl	human	known	69_37n	missense	6	57.14	8	SNP	1.000	C
RAP1GAP	5909	genome.wustl.edu	37	1	21924472	21924472	+	Silent	SNP	C	C	T			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr1:21924472C>T	ENST00000374765.4	-	23	2165	c.1965G>A	c.(1963-1965)gaG>gaA	p.E655E	RAP1GAP_ENST00000374763.2_Silent_p.E740E|RAP1GAP_ENST00000374761.2_Silent_p.E686E|RAP1GAP_ENST00000290101.4_Silent_p.E719E|RAP1GAP_ENST00000542643.2_Silent_p.E673E	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	655					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GCATGTGCTGCTCAGATGCTT	0.692																																						dbGAP											0													20.0	21.0	21.0					1																	21924472		2193	4283	6476	-	-	-	SO:0001819	synonymous_variant	0			BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1965G>A	1.37:g.21924472C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	pfam_Rap_GAP,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP	p.E719	ENST00000374765.4	37	c.2157	CCDS218.1	1																																																																																			RAP1GAP	-	NULL	ENSG00000076864		0.692	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GAP	HGNC	protein_coding	OTTHUMT00000019759.2	28	0.00	0	C	NM_002885		21924472	21924472	-1	no_errors	ENST00000290101	ensembl	human	known	69_37n	silent	15	28.57	6	SNP	0.995	T
REV3L	5980	genome.wustl.edu	37	6	111688818	111688818	+	Missense_Mutation	SNP	C	C	A	rs373304798		TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr6:111688818C>A	ENST00000358835.3	-	15	6627	c.6173G>T	c.(6172-6174)tGt>tTt	p.C2058F	REV3L_ENST00000368802.3_Missense_Mutation_p.C2058F|REV3L_ENST00000435970.1_Missense_Mutation_p.C1980F|REV3L_ENST00000368805.1_Missense_Mutation_p.C2058F			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2058					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GGGGAGTATACATGGACTTAC	0.428								DNA polymerases (catalytic subunits)																														dbGAP											0													209.0	195.0	200.0					6																	111688818		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6173G>T	6.37:g.111688818C>A	ENSP00000351697:p.Cys2058Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.C2058F	ENST00000358835.3	37	c.6173	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.847614	0.00568	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.01430	5.0;5.0;5.0;4.9	5.64	3.19	0.36642	Ribonuclease H-like (1);	0.798476	0.11668	N	0.541153	T	0.00241	0.0007	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36383	-0.9750	10	0.09843	T	0.71	-0.2941	3.583	0.07961	0.116:0.0779:0.1772:0.629	.	2058	O60673	DPOLZ_HUMAN	F	2058;2058;2058;1980;131	ENSP00000357792:C2058F;ENSP00000357795:C2058F;ENSP00000351697:C2058F;ENSP00000402003:C1980F	ENSP00000351697:C2058F	C	-	2	0	REV3L	111795511	0.150000	0.22732	0.277000	0.24703	0.237000	0.25408	0.190000	0.17057	0.467000	0.27218	-0.312000	0.09012	TGT	REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.428	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	347	0.00	0	C	NM_002912		111688818	111688818	-1	no_errors	ENST00000358835	ensembl	human	known	69_37n	missense	194	26.24	69	SNP	0.118	A
SASH1	23328	genome.wustl.edu	37	6	148852768	148852768	+	Missense_Mutation	SNP	G	G	A	rs534390155		TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr6:148852768G>A	ENST00000367467.3	+	13	2010	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	512					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GAAAGTCTTCGCAGTTCTCTC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		18842	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													80.0	72.0	74.0					6																	148852768		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1535G>A	6.37:g.148852768G>A	ENSP00000356437:p.Arg512His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.R512H	ENST00000367467.3	37	c.1535	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.407235	0.96051	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.42513	0.97	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.56514	0.1990	M	0.68317	2.08	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51276	-0.8726	10	0.33940	T	0.23	-21.2899	19.0299	0.92952	0.0:0.0:1.0:0.0	.	493;512	Q6P4R9;O94885	.;SASH1_HUMAN	H	512;273	ENSP00000356437:R512H	ENSP00000356437:R512H	R	+	2	0	SASH1	148894461	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.656000	0.83736	2.503000	0.84419	0.655000	0.94253	CGC	SASH1	-	pfam_rSAM/SH3_domain-containing	ENSG00000111961		0.507	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	140	0.00	0	G	NM_015278		148852768	148852768	+1	no_errors	ENST00000367467	ensembl	human	known	69_37n	missense	78	16.13	15	SNP	1.000	A
SLC7A7	9056	genome.wustl.edu	37	14	23245482	23245482	+	Silent	SNP	G	G	A			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr14:23245482G>A	ENST00000397532.3	-	5	1341	c.816C>T	c.(814-816)atC>atT	p.I272I	SLC7A7_ENST00000397529.2_Silent_p.I272I|SLC7A7_ENST00000555702.1_Silent_p.I272I|SLC7A7_ENST00000285850.7_Silent_p.I272I|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397528.4_Silent_p.I272I|SLC7A7_ENST00000554517.1_Silent_p.I6I			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	272					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGATATAGATGATGGTGACAA	0.443																																						dbGAP											0													132.0	116.0	121.0					14																	23245482		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.816C>T	14.37:g.23245482G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.I272	ENST00000397532.3	37	c.816	CCDS9574.1	14																																																																																			SLC7A7	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1	ENSG00000155465		0.443	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A7	HGNC	protein_coding	OTTHUMT00000071636.3	197	0.00	0	G			23245482	23245482	-1	no_errors	ENST00000285850	ensembl	human	known	69_37n	silent	106	15.20	19	SNP	1.000	A
SMARCD3	6604	genome.wustl.edu	37	7	150937202	150937202	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr7:150937202C>T	ENST00000262188.8	-	10	1579	c.1169G>A	c.(1168-1170)aGt>aAt	p.S390N	MIR671_ENST00000390183.1_RNA|SMARCD3_ENST00000477169.1_5'Flank|SMARCD3_ENST00000356800.2_Missense_Mutation_p.S377N|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000392811.2_Missense_Mutation_p.S377N	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	390					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCACCTTACTGTCCAGAGC	0.547																																						dbGAP											0													114.0	98.0	103.0					7																	150937202		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.1169G>A	7.37:g.150937202C>T	ENSP00000262188:p.Ser390Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.S390N	ENST00000262188.8	37	c.1169	CCDS34780.1	7	.	.	.	.	.	.	.	.	.	.	C	7.991	0.753348	0.15778	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.41758	0.99;0.99;0.99	5.14	5.14	0.70334	.	0.042014	0.85682	D	0.000000	T	0.12008	0.0292	N	0.00583	-1.355	0.42093	D	0.991306	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.24657	-1.0154	10	0.08837	T	0.75	-10.7722	9.6936	0.40143	0.0:0.9057:0.0:0.0943	.	377;390	Q6STE5-2;Q6STE5	.;SMRD3_HUMAN	N	390;377;377;342	ENSP00000262188:S390N;ENSP00000376558:S377N;ENSP00000349254:S377N	ENSP00000262188:S390N	S	-	2	0	SMARCD3	150568135	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.282000	0.51693	2.368000	0.80403	0.655000	0.94253	AGT	SMARCD3	-	NULL	ENSG00000082014		0.547	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD3	HGNC	protein_coding	OTTHUMT00000348825.1	179	0.00	0	C	NM_001003801		150937202	150937202	-1	no_errors	ENST00000262188	ensembl	human	known	69_37n	missense	91	26.61	33	SNP	1.000	T
TLE6	79816	genome.wustl.edu	37	19	2987728	2987728	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr19:2987728G>T	ENST00000246112.4	+	9	766	c.565G>T	c.(565-567)Gaa>Taa	p.E189*	TLE6_ENST00000452088.1_Nonsense_Mutation_p.E66*|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	189					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.E66K(1)|p.E189K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGGCAGGAAAGCAAGGC	0.597																																						dbGAP											2	Substitution - Missense(2)	kidney(2)											81.0	79.0	80.0					19																	2987728		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.565G>T	19.37:g.2987728G>T	ENSP00000246112:p.Glu189*	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KMZ1	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.E189*	ENST00000246112.4	37	c.565	CCDS45910.1	19	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660058	0.67586	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	.	.	.	2.89	1.82	0.25136	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-13.8431	7.8485	0.29440	0.0:0.257:0.743:0.0	.	.	.	.	X	189;189;66;66	.	ENSP00000246112:E189X	E	+	1	0	TLE6	2938728	0.145000	0.22656	0.205000	0.23548	0.098000	0.18820	0.896000	0.28377	0.771000	0.33359	0.555000	0.69702	GAA	TLE6	-	NULL	ENSG00000104953		0.597	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE6	HGNC	protein_coding	OTTHUMT00000345996.3	67	0.00	0	G	NM_024760		2987728	2987728	+1	no_errors	ENST00000246112	ensembl	human	known	69_37n	nonsense	25	30.56	11	SNP	0.234	T
TP53	7157	genome.wustl.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr17:7578534C>G	ENST00000269305.4	-	5	585	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000420246.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAAAACATCTTGTTGAGGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	77	Substitution - Missense(51)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Substitution - coding silent(1)	urinary_tract(13)|breast(10)|ovary(10)|lung(9)|large_intestine(8)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|adrenal_gland(3)|upper_aerodigestive_tract(2)|skin(2)|liver(2)|stomach(1)|penis(1)|oesophagus(1)|pancreas(1)											47.0	48.0	48.0					17																	7578534		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.396G>C	17.37:g.7578534C>G	ENSP00000269305:p.Lys132Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.K132N	ENST00000269305.4	37	c.396	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123172	0.77436	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	3.5	0.40072	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.91768	3.24	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.993;0.996;0.999;0.998;1.0	D	0.97328	0.9948	10	0.87932	D	0	-14.0777	10.5581	0.45129	0.0:0.841:0.0:0.159	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132N;ENSP00000352610:K132N;ENSP00000269305:K132N;ENSP00000398846:K132N;ENSP00000391127:K132N;ENSP00000391478:K132N;ENSP00000423862:K39N;ENSP00000424104:K132N	ENSP00000269305:K132N	K	-	3	2	TP53	7519259	1.000000	0.71417	0.994000	0.49952	0.784000	0.44337	1.646000	0.37249	0.804000	0.34136	0.655000	0.94253	AAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	125	0.00	0	C	NM_000546		7578534	7578534	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	47	51.04	49	SNP	1.000	G
TRAPPC2	6399	genome.wustl.edu	37	X	13734634	13734634	+	Intron	SNP	A	A	G			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chrX:13734634A>G	ENST00000380579.1	-	4	431				TRAPPC2_ENST00000358231.5_Intron|TRAPPC2_ENST00000458511.2_Intron|TRAPPC2_ENST00000359680.5_Intron|TRAPPC2_ENST00000519885.1_Intron|TRAPPC2_ENST00000453655.2_Missense_Mutation_p.V86A			P0DI81	TPC2A_HUMAN	trafficking protein particle complex 2						ER to Golgi vesicle-mediated transport (GO:0006888)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ion channel binding (GO:0044325)|transcription factor binding (GO:0008134)			kidney(1)	1						AGTTACCTTTACTAAGAAGGT	0.428																																						dbGAP											0													87.0	72.0	77.0					X																	13734634		1911	4118	6029	-	-	-	SO:0001627	intron_variant	0			AF157061	CCDS48082.1, CCDS48083.1, CCDS48083.2	Xp22	2011-10-10	2005-01-26		ENSG00000196459	ENSG00000196459		"""Trafficking protein particle complex"""	23068	protein-coding gene	gene with protein product		300202	"""spondyloepiphyseal dysplasia, late"""	SEDL		14597397	Standard	NM_014563		Approved	TRS20, SEDT, MIP-2A, ZNF547L, hYP38334	uc010nej.2	P0DI81	OTTHUMG00000021157	ENST00000380579.1:c.238+18T>C	X.37:g.13734634A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEG0|O14582|Q9HD16	Missense_Mutation	SNP	pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom	p.V86A	ENST00000380579.1	37	c.257	CCDS48082.1	X	.	.	.	.	.	.	.	.	.	.	A	6.307	0.424670	0.11928	.	.	ENSG00000196459	ENST00000453655;ENST00000426522	D	0.81821	-1.54	4.01	1.43	0.22495	.	2.708420	0.01684	N	0.026339	T	0.74053	0.3666	.	.	.	0.09310	N	1	P	0.42871	0.792	B	0.39027	0.288	T	0.61407	-0.7069	9	0.87932	D	0	-0.7541	5.1323	0.14917	0.7461:0.0:0.093:0.1608	.	120	P0DI81-2	.	A	86	ENSP00000394629:V86A	ENSP00000393394:V86A	V	-	2	0	TRAPPC2	13644555	0.000000	0.05858	0.000000	0.03702	0.212000	0.24457	0.191000	0.17076	0.023000	0.15187	0.486000	0.48141	GTA	TRAPPC2	-	pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom	ENSG00000196459		0.428	TRAPPC2-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TRAPPC2	HGNC	protein_coding	OTTHUMT00000055805.2	190	0.00	0	A	NM_014563		13734634	13734634	-1	no_errors	ENST00000453655	ensembl	human	known	69_37n	missense	144	16.76	29	SNP	0.001	G
TRPV2	51393	genome.wustl.edu	37	17	16330833	16330833	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr17:16330833T>G	ENST00000338560.7	+	8	1721	c.1322T>G	c.(1321-1323)cTa>cGa	p.L441R	AC093484.4_ENST00000441875.1_RNA|TRPV2_ENST00000577397.1_Missense_Mutation_p.L11R	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	441					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTTATCCTGCTAGGGGGGATC	0.567																																						dbGAP											0													82.0	67.0	72.0					17																	16330833		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1322T>G	17.37:g.16330833T>G	ENSP00000342222:p.Leu441Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.L441R	ENST00000338560.7	37	c.1322	CCDS32576.1	17	.	.	.	.	.	.	.	.	.	.	T	8.542	0.873500	0.17322	.	.	ENSG00000187688	ENST00000338560	D	0.91351	-2.83	5.55	5.55	0.83447	.	0.430374	0.27787	N	0.017850	D	0.93835	0.8028	M	0.82716	2.605	0.40327	D	0.978888	D	0.58970	0.984	P	0.55871	0.786	D	0.94473	0.7686	10	0.59425	D	0.04	-29.8244	12.0913	0.53728	0.0:0.0:0.0:1.0	.	441	Q9Y5S1	TRPV2_HUMAN	R	441	ENSP00000342222:L441R	ENSP00000342222:L441R	L	+	2	0	TRPV2	16271558	0.998000	0.40836	0.970000	0.41538	0.025000	0.11179	4.420000	0.59841	2.117000	0.64856	0.460000	0.39030	CTA	TRPV2	-	tigrfam_TRP_channel	ENSG00000187688		0.567	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV2	HGNC	protein_coding	OTTHUMT00000130464.2	46	0.00	0	T	NM_016113		16330833	16330833	+1	no_errors	ENST00000338560	ensembl	human	known	69_37n	missense	18	40.62	13	SNP	0.990	G
TUBAL3	79861	genome.wustl.edu	37	10	5435789	5435789	+	Silent	SNP	C	C	T			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr10:5435789C>T	ENST00000380419.3	-	4	1069	c.1032G>A	c.(1030-1032)tcG>tcA	p.S344S	TUBAL3_ENST00000479328.1_Silent_p.S304S	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	344					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CAGAGTGCCTCGACTTCGTGG	0.562																																						dbGAP											0													90.0	82.0	84.0					10																	5435789		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.1032G>A	10.37:g.5435789C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKL2|Q4QQJ5|Q9H6Z0	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.S344	ENST00000380419.3	37	c.1032	CCDS7066.2	10																																																																																			TUBAL3	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin	ENSG00000178462		0.562	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBAL3	HGNC	protein_coding	OTTHUMT00000046548.2	88	0.00	0	C	NM_024803		5435789	5435789	-1	no_errors	ENST00000380419	ensembl	human	known	69_37n	silent	49	24.62	16	SNP	0.660	T
ZNF577	84765	genome.wustl.edu	37	19	52376691	52376691	+	Silent	SNP	T	T	C			TCGA-E2-A1B0-01A-11D-A12Q-09	TCGA-E2-A1B0-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	14e3b00c-cbec-4733-8fa4-829b8e7d9808	ce4b0897-884b-4483-b105-7677ddcb341d	g.chr19:52376691T>C	ENST00000301399.5	-	7	917	c.552A>G	c.(550-552)aaA>aaG	p.K184K	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000420592.1_Silent_p.K125K|ZNF577_ENST00000451628.2_Silent_p.K125K	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ATCCATGGGGTTTCTCTCCTC	0.478																																						dbGAP											0													127.0	118.0	121.0					19																	52376691		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.552A>G	19.37:g.52376691T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0B4|A8K6Z7|C9JFB9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K184	ENST00000301399.5	37	c.552	CCDS12842.2	19																																																																																			ZNF577	-	pfscan_Znf_C2H2	ENSG00000161551		0.478	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF577	HGNC	protein_coding	OTTHUMT00000347243.1	199	0.00	0	T	NM_032679		52376691	52376691	-1	no_errors	ENST00000301399	ensembl	human	known	69_37n	silent	149	18.13	33	SNP	0.519	C
