#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
ACAT2	39	genome.wustl.edu	37	6	160189620	160189620	+	Silent	SNP	T	T	A			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr6:160189620T>A	ENST00000367048.4	+	4	2210	c.450T>A	c.(448-450)ggT>ggA	p.G150G	ACAT2_ENST00000541436.1_Silent_p.G179G	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	150					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCTGTGATGGTCTTACAGATG	0.388																																						dbGAP											0													171.0	152.0	159.0					6																	160189620		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	100678	"""acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)"", ""acetyl-Coenzyme A acetyltransferase 2"""			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.450T>A	6.37:g.160189620T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Silent	SNP	pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.G179	ENST00000367048.4	37	c.537	CCDS5268.1	6																																																																																			ACAT2	-	pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	ENSG00000120437		0.388	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAT2	HGNC	protein_coding	OTTHUMT00000042912.1	256	0.00	0	T	NM_005891		160189620	160189620	+1	no_errors	ENST00000541436	ensembl	human	known	69_37n	silent	124	53.21	141	SNP	0.983	A
APBB1IP	54518	genome.wustl.edu	37	10	26856303	26856304	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr10:26856303_26856304insC	ENST00000376236.4	+	15	2342_2343	c.1887_1888insC	c.(1888-1890)cccfs	p.P630fs		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	630	Pro-rich.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GGCCTCCTGTGCCCCCCAAGAG	0.723																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1893dupC	10.37:g.26856309_26856309dupC	ENSP00000365411:p.Pro630fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWS8|Q8IYL7|Q8IZZ7	Frame_Shift_Ins	INS	pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc	p.K631fs	ENST00000376236.4	37	c.1887_1888	CCDS31167.1	10																																																																																			APBB1IP	-	NULL	ENSG00000077420		0.723	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	APBB1IP	HGNC	protein_coding	OTTHUMT00000047270.1	14	0.00	0	-	NM_019043		26856303	26856304	+1	no_errors	ENST00000376236	ensembl	human	known	69_37n	frame_shift_ins	6	25.00	2	INS	0.012:0.995	C
ARHGAP10	79658	genome.wustl.edu	37	4	148985600	148985600	+	Silent	SNP	G	G	A	rs562056243	byFrequency	TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr4:148985600G>A	ENST00000336498.3	+	22	2453	c.2214G>A	c.(2212-2214)ccG>ccA	p.P738P	ARHGAP10_ENST00000414545.2_Silent_p.P336P	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CCGTGTATCCGTGTGAAGCAG	0.453													g|||	3	0.000599042	0.0	0.0	5008	,	,		21082	0.0		0.0	False		,,,				2504	0.0031					dbGAP											0													131.0	126.0	128.0					4																	148985600		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.2214G>A	4.37:g.148985600G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.V365M	ENST00000336498.3	37	c.1093	CCDS34075.1	4	.	.	.	.	.	.	.	.	.	.	g	2.224	-0.377813	0.05000	.	.	ENSG00000071205	ENST00000507661	.	.	.	5.62	-11.2	0.00127	.	.	.	.	.	T	0.43897	0.1268	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56709	-0.7934	4	.	.	.	.	6.8339	0.23925	0.1891:0.3532:0.3873:0.0703	.	.	.	.	M	365	.	.	V	+	1	0	ARHGAP10	149205050	0.000000	0.05858	0.070000	0.20053	0.379000	0.30106	-5.377000	0.00127	-3.395000	0.00172	-1.110000	0.02074	GTG	ARHGAP10	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000071205		0.453	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP10	HGNC	protein_coding	OTTHUMT00000365005.1	284	0.00	0	G	NM_024605		148985600	148985600	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000507661	ensembl	human	putative	69_37n	missense	280	14.11	46	SNP	0.022	A
ATG2A	23130	genome.wustl.edu	37	11	64666107	64666107	+	Splice_Site	SNP	C	C	T			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr11:64666107C>T	ENST00000377264.3	-	32	4784		c.e32+1		ATG2A_ENST00000421419.2_Splice_Site	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A						autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GTCGCTCATACCATGTTAGAG	0.587																																						dbGAP											0													81.0	57.0	65.0					11																	64666107		2201	4297	6498	-	-	-	SO:0001630	splice_region_variant	0				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4671+1G>A	11.37:g.64666107C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Splice_Site	SNP	-	e32+1	ENST00000377264.3	37	c.4677+1	CCDS31602.1	11	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056360	0.36277	.	.	ENSG00000110046	ENST00000421419;ENST00000418259;ENST00000377264	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5831	0.68305	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATG2A	64422683	1.000000	0.71417	0.995000	0.50966	0.200000	0.23975	6.880000	0.75578	2.370000	0.80446	0.561000	0.74099	.	ATG2A	-	-	ENSG00000110046		0.587	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	62	0.00	0	C	NM_015104	Intron	64666107	64666107	-1	no_errors	ENST00000421419	ensembl	human	known	69_37n	splice_site	22	35.29	12	SNP	1.000	T
BICD2	23299	genome.wustl.edu	37	9	95481299	95481300	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr9:95481299_95481300insG	ENST00000375512.3	-	5	1694_1695	c.1627_1628insC	c.(1627-1629)atgfs	p.M543fs	BICD2_ENST00000356884.6_Frame_Shift_Ins_p.M543fs	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	543					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATTGTTGCACATGCACACGTGG	0.668																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1627_1628insC	9.37:g.95481299_95481300insG	ENSP00000364662:p.Met543fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Frame_Shift_Ins	INS	pfam_Bicaudal-D_microtubule-assoc	p.M543fs	ENST00000375512.3	37	c.1628_1627	CCDS6700.1	9																																																																																			BICD2	-	pfam_Bicaudal-D_microtubule-assoc	ENSG00000185963		0.668	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	14	0.00	0	-	NM_015250		95481299	95481300	-1	no_errors	ENST00000356884	ensembl	human	known	69_37n	frame_shift_ins	5	58.33	7	INS	1.000:1.000	G
BICD2	23299	genome.wustl.edu	37	9	95481305	95481306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr9:95481305_95481306insG	ENST00000375512.3	-	5	1688_1689	c.1621_1622insC	c.(1621-1623)gtgfs	p.V541fs	BICD2_ENST00000356884.6_Frame_Shift_Ins_p.V541fs	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	541					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCACATGCACACGTGGTGGTAG	0.658																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1621_1622insC	9.37:g.95481305_95481306insG	ENSP00000364662:p.Val541fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Frame_Shift_Ins	INS	pfam_Bicaudal-D_microtubule-assoc	p.V541fs	ENST00000375512.3	37	c.1622_1621	CCDS6700.1	9																																																																																			BICD2	-	pfam_Bicaudal-D_microtubule-assoc	ENSG00000185963		0.658	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	15	0.00	0	-	NM_015250		95481305	95481306	-1	no_errors	ENST00000356884	ensembl	human	known	69_37n	frame_shift_ins	6	53.85	7	INS	1.000:1.000	G
BPIFB4	149954	genome.wustl.edu	37	20	31671605	31671605	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr20:31671605G>A	ENST00000375483.3	+	3	602	c.602G>A	c.(601-603)gGa>gAa	p.G201E		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	201	Gly-rich.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GGTGATGGAGGACTTCTTGGA	0.652																																						dbGAP											0													36.0	42.0	40.0					20																	31671605		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.602G>A	20.37:g.31671605G>A	ENSP00000364632:p.Gly201Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDX6	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.G201E	ENST00000375483.3	37	c.602	CCDS13213.2	20	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201268	0.38905	.	.	ENSG00000186191	ENST00000375483	T	0.01287	5.05	3.33	2.37	0.29283	.	0.287447	0.24211	N	0.040532	T	0.01870	0.0059	L	0.59436	1.845	0.28831	N	0.897143	B	0.12630	0.006	B	0.15052	0.012	T	0.27536	-1.0071	10	0.37606	T	0.19	-8.698	6.8851	0.24195	0.1324:0.0:0.8676:0.0	.	201	P59827	BPIB4_HUMAN	E	201	ENSP00000364632:G201E	ENSP00000364632:G201E	G	+	2	0	BPIFB4	31135266	1.000000	0.71417	0.990000	0.47175	0.522000	0.34438	3.423000	0.52756	0.740000	0.32651	-0.567000	0.04161	GGA	BPIFB4	-	smart_Lipid-bd_serum_glycop_N	ENSG00000186191		0.652	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	HGNC	protein_coding	OTTHUMT00000078655.5	173	0.00	0	G	NM_182519		31671605	31671605	+1	no_errors	ENST00000375483	ensembl	human	known	69_37n	missense	33	37.74	20	SNP	0.997	A
C16orf58	64755	genome.wustl.edu	37	16	31510720	31510720	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr16:31510720delG	ENST00000327237.2	-	5	542	c.503delC	c.(502-504)gcgfs	p.A168fs	C16orf58_ENST00000430477.2_Frame_Shift_Del_p.A26fs|C16orf58_ENST00000567994.1_Frame_Shift_Del_p.A123fs|C16orf58_ENST00000570164.1_Frame_Shift_Del_p.A168fs			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	168						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						GAGGATGTCCGCAAAAAGCCT	0.537																																						dbGAP											0													79.0	74.0	76.0					16																	31510720		2197	4300	6497	-	-	-	SO:0001589	frameshift_variant	0			AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.503delC	16.37:g.31510720delG	ENSP00000317579:p.Ala168fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Frame_Shift_Del	DEL	pfam_DUF647	p.A168fs	ENST00000327237.2	37	c.503	CCDS10715.1	16																																																																																			C16orf58	-	pfam_DUF647	ENSG00000140688		0.537	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf58	HGNC	protein_coding	OTTHUMT00000255629.2	163	0.00	0	G	NM_022744		31510720	31510720	-1	no_errors	ENST00000327237	ensembl	human	known	69_37n	frame_shift_del	78	44.97	67	DEL	1.000	-
SMIM19	114926	genome.wustl.edu	37	8	42407725	42407725	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr8:42407725G>A	ENST00000438528.3	+	4	347	c.298G>A	c.(298-300)Gac>Aac	p.D100N	RP11-503E24.3_ENST00000607533.1_lincRNA|SMIM19_ENST00000417410.2_Missense_Mutation_p.D100N|SMIM19_ENST00000490331.2_Missense_Mutation_p.D100N|SMIM19_ENST00000414154.2_Missense_Mutation_p.D100N|SMIM19_ENST00000416469.2_Missense_Mutation_p.D100N	NM_001135676.1	NP_001129148.1	Q96E16	SMI19_HUMAN	small integral membrane protein 19	100						integral component of membrane (GO:0016021)											AAACCAAGCTGACAGTGTGCA	0.338																																						dbGAP											0													84.0	83.0	83.0					8																	42407725		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013035	CCDS6133.2	8p11.21	2013-03-08	2013-03-08	2013-03-08	ENSG00000176209	ENSG00000176209			25166	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 40"""	C8orf40		12477932	Standard	NM_001135674		Approved		uc011lcv.2	Q96E16	OTTHUMG00000157060	ENST00000438528.3:c.298G>A	8.37:g.42407725G>A	ENSP00000391549:p.Asp100Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4S6|D3DSY4	Missense_Mutation	SNP	NULL	p.D100N	ENST00000438528.3	37	c.298	CCDS6133.2	8	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506886	0.85282	.	.	ENSG00000176209	ENST00000438528;ENST00000417410;ENST00000414154;ENST00000416469;ENST00000490331	.	.	.	5.95	5.07	0.68467	.	0.082064	0.85682	D	0.000000	T	0.42832	0.1220	L	0.27053	0.805	0.49389	D	0.999788	B	0.13594	0.008	B	0.17433	0.018	T	0.26677	-1.0096	9	0.22706	T	0.39	.	11.2611	0.49083	0.0841:0.0:0.9159:0.0	.	100	Q96E16	CH040_HUMAN	N	100	.	ENSP00000408997:D100N	D	+	1	0	C8orf40	42526882	1.000000	0.71417	0.998000	0.56505	0.714000	0.41099	5.998000	0.70653	1.522000	0.49001	0.561000	0.74099	GAC	C8orf40	-	NULL	ENSG00000176209		0.338	SMIM19-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C8orf40	HGNC	protein_coding	OTTHUMT00000347309.2	152	0.00	0	G	NM_138436		42407725	42407725	+1	no_errors	ENST00000414154	ensembl	human	known	69_37n	missense	559	24.25	179	SNP	1.000	A
CDC42BPG	55561	genome.wustl.edu	37	11	64597451	64597451	+	Frame_Shift_Del	DEL	G	G	-	rs201615762		TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr11:64597451delG	ENST00000342711.5	-	30	3458	c.3459delC	c.(3457-3459)cccfs	p.P1153fs	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GACGCACGCTGGGGCCGCGGC	0.662																																						dbGAP											0													29.0	32.0	31.0					11																	64597451		2201	4295	6496	-	-	-	SO:0001589	frameshift_variant	0			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3459delC	11.37:g.64597451delG	ENSP00000345133:p.Pro1153fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.S1154fs	ENST00000342711.5	37	c.3459	CCDS31601.1	11																																																																																			CDC42BPG	-	pfam_Citron,smart_Citron	ENSG00000171219		0.662	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	17	0.00	0	G	XM_290516		64597451	64597451	-1	no_errors	ENST00000342711	ensembl	human	known	69_37n	frame_shift_del	3	57.14	4	DEL	1.000	-
CELSR1	9620	genome.wustl.edu	37	22	46929574	46929575	+	Frame_Shift_Ins	INS	-	-	C	rs142075439		TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr22:46929574_46929575insC	ENST00000262738.3	-	1	3492_3493	c.3493_3494insG	c.(3493-3495)gacfs	p.D1165fs	CELSR1_ENST00000395964.1_Frame_Shift_Ins_p.D1165fs|CELSR1_ENST00000497509.1_5'UTR	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1165	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTTGTCCAGGTCGCGGCTGAGC	0.663																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3494dupG	22.37:g.46929575_46929575dupC	ENSP00000262738:p.Asp1165fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.D1165fs	ENST00000262738.3	37	c.3494_3493	CCDS14076.1	22																																																																																			CELSR1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000075275		0.663	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	16	0.00	0	-	NM_014246		46929574	46929575	-1	no_errors	ENST00000262738	ensembl	human	known	69_37n	frame_shift_ins	4	42.86	3	INS	1.000:1.000	C
CENPJ	55835	genome.wustl.edu	37	13	25480533	25480533	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr13:25480533delT	ENST00000381884.4	-	7	1828	c.1643delA	c.(1642-1644)gagfs	p.E548fs	CENPJ_ENST00000545981.1_Frame_Shift_Del_p.E548fs	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	548					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AGATTCAGACTCTTTCATGGT	0.428																																						dbGAP											0													54.0	61.0	59.0					13																	25480533		2201	4300	6501	-	-	-	SO:0001589	frameshift_variant	0			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1643delA	13.37:g.25480533delT	ENSP00000371308:p.Glu548fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Frame_Shift_Del	DEL	pfam_Tcp10/CenJ_C	p.E548fs	ENST00000381884.4	37	c.1643	CCDS9310.1	13																																																																																			CENPJ	-	NULL	ENSG00000151849		0.428	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPJ	HGNC	protein_coding	OTTHUMT00000044209.1	118	0.00	0	T	NM_018451		25480533	25480533	-1	no_errors	ENST00000381884	ensembl	human	known	69_37n	frame_shift_del	61	28.74	25	DEL	0.001	-
CLECL1	160365	genome.wustl.edu	37	12	9885557	9885558	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr12:9885557_9885558insA	ENST00000327839.3	-	1	337_338	c.303_304insT	c.(301-306)ccacttfs	p.L102fs		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						GATCTCTGAAGTGGAAACGCGA	0.401																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF518873	CCDS8603.1, CCDS73441.1	12p13.31	2007-06-21				ENSG00000184293			24462	protein-coding gene	gene with protein product	"""dendritic cell associated lectin 1"""	607467				12421943	Standard	NM_172004		Approved	DCAL1	uc001qwi.3	Q8IZS7		ENST00000327839.3:c.303_304insT	12.37:g.9885557_9885558insA	ENSP00000331766:p.Leu102fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	superfamily_C-type_lectin_fold	p.L101fs	ENST00000327839.3	37	c.304_303	CCDS8603.1	12																																																																																			CLECL1	-	NULL	ENSG00000184293		0.401	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLECL1	HGNC	protein_coding	OTTHUMT00000399815.1	68	0.00	0	-	NM_172004		9885557	9885558	-1	no_errors	ENST00000327839	ensembl	human	known	69_37n	frame_shift_ins	74	11.90	10	INS	0.003:0.002	A
CRY2	1408	genome.wustl.edu	37	11	45882531	45882531	+	Silent	SNP	G	G	A			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr11:45882531G>A	ENST00000443527.2	+	4	685	c.663G>A	c.(661-663)gaG>gaA	p.E221E	CRY2_ENST00000473199.1_Intron|CRY2_ENST00000417225.2_Silent_p.E139E	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	200					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GCAGGGCCGAGATCCAGGAGA	0.607																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	dbGAP											0													86.0	68.0	74.0					11																	45882531		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.663G>A	11.37:g.45882531G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DH32|B4DZD6|O75148|Q8IV71	Silent	SNP	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.E221	ENST00000443527.2	37	c.663	CCDS7915.2	11																																																																																			CRY2	-	superfamily_DNA_photolyase_N	ENSG00000121671		0.607	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRY2	HGNC	protein_coding	OTTHUMT00000330235.2	96	0.00	0	G	NM_021117		45882531	45882531	+1	no_errors	ENST00000443527	ensembl	human	known	69_37n	silent	32	36.00	18	SNP	1.000	A
DCAF4L2	138009	genome.wustl.edu	37	8	88885215	88885215	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr8:88885215C>T	ENST00000319675.3	-	1	1081	c.985G>A	c.(985-987)Gtg>Atg	p.V329M		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	329								p.V329M(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACGGCCGCCACGACTCCTTCT	0.572																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											78.0	81.0	80.0					8																	88885215		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.985G>A	8.37:g.88885215C>T	ENSP00000316496:p.Val329Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V329M	ENST00000319675.3	37	c.985	CCDS6245.1	8	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494403	0.44352	.	.	ENSG00000176566	ENST00000319675	T	0.72505	-0.66	1.39	-2.79	0.05841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.619959	0.16657	N	0.204929	T	0.45776	0.1359	N	0.19112	0.55	0.24176	N	0.995607	B	0.25809	0.135	B	0.20184	0.028	T	0.18903	-1.0322	10	0.45353	T	0.12	.	4.2227	0.10565	0.2005:0.2707:0.5288:0.0	.	329	Q8NA75	DC4L2_HUMAN	M	329	ENSP00000316496:V329M	ENSP00000316496:V329M	V	-	1	0	DCAF4L2	88954331	0.998000	0.40836	0.012000	0.15200	0.157000	0.22087	0.641000	0.24720	-0.799000	0.04439	0.467000	0.42956	GTG	DCAF4L2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000176566		0.572	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	HGNC	protein_coding	OTTHUMT00000375302.1	175	0.00	0	C	NM_152418		88885215	88885215	-1	no_errors	ENST00000319675	ensembl	human	known	69_37n	missense	103	70.06	241	SNP	0.993	T
DDIT4L	115265	genome.wustl.edu	37	4	101108852	101108852	+	Silent	SNP	T	T	C			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr4:101108852T>C	ENST00000273990.2	-	3	778	c.564A>G	c.(562-564)acA>acG	p.T188T	RP11-588P8.1_ENST00000515782.1_RNA|RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	188					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		CTTCAATCACTGTTGTTCCAA	0.373																																						dbGAP											0													49.0	53.0	52.0					4																	101108852		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"""regulated in development and DNA damage response 2"", "" similar to Smhs1 protein"""	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.564A>G	4.37:g.101108852T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7C3	Silent	SNP	pfam_RTP801-like	p.T188	ENST00000273990.2	37	c.564	CCDS34036.1	4																																																																																			DDIT4L	-	NULL	ENSG00000145358		0.373	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDIT4L	HGNC	protein_coding	OTTHUMT00000363423.1	36	0.00	0	T	NM_145244		101108852	101108852	-1	no_errors	ENST00000273990	ensembl	human	known	69_37n	silent	23	46.51	20	SNP	0.999	C
ECH1	1891	genome.wustl.edu	37	19	39306943	39306943	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr19:39306943delG	ENST00000221418.4	-	8	944	c.712delC	c.(712-714)ctgfs	p.L238fs	LGALS4_ENST00000307751.4_5'Flank	NM_001398.2	NP_001389.2	Q13011	ECH1_HUMAN	enoyl CoA hydratase 1, peroxisomal	238					fatty acid beta-oxidation (GO:0006635)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	isomerase activity (GO:0016853)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCACTGCCCAGGGCCTCGTCA	0.687																																						dbGAP											0													39.0	37.0	37.0					19																	39306943		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U16660	CCDS33014.1	19q13.1	2010-04-30	2010-04-30			ENSG00000104823			3149	protein-coding gene	gene with protein product		600696	"""enoyl Coenzyme A hydratase 1, peroxisomal"""			7558027	Standard	XM_005258610		Approved	HPXEL		Q13011		ENST00000221418.4:c.712delC	19.37:g.39306943delG	ENSP00000221418:p.Leu238fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K745|Q8WVX0|Q96EZ9	Frame_Shift_Del	DEL	pfam_Crotonase_core	p.L238fs	ENST00000221418.4	37	c.712	CCDS33014.1	19																																																																																			ECH1	-	pfam_Crotonase_core	ENSG00000104823		0.687	ECH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECH1	HGNC	protein_coding	OTTHUMT00000462650.1	113	0.00	0	G			39306943	39306943	-1	no_errors	ENST00000221418	ensembl	human	known	69_37n	frame_shift_del	31	31.25	15	DEL	0.998	-
EML6	400954	genome.wustl.edu	37	2	55119763	55119763	+	Silent	SNP	G	G	T			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr2:55119763G>T	ENST00000356458.6	+	18	3232	c.2712G>T	c.(2710-2712)ggG>ggT	p.G904G		NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	904						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						CTCATGATGGGCCTGTGTTTG	0.413																																						dbGAP											0													272.0	242.0	251.0					2																	55119763		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.2712G>T	2.37:g.55119763G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUB5|B6ZDG7	Silent	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G904	ENST00000356458.6	37	c.2712	CCDS46286.1	2																																																																																			EML6	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000214595		0.413	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	274	0.00	0	G	XM_001725002		55119763	55119763	+1	no_errors	ENST00000356458	ensembl	human	novel	69_37n	silent	310	13.65	49	SNP	0.997	T
EML6	400954	genome.wustl.edu	37	2	55177837	55177838	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr2:55177837_55177838insC	ENST00000356458.6	+	29	4654_4655	c.4134_4135insC	c.(4135-4137)aacfs	p.N1379fs		NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	1379						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						ACTGTCGAAATAACCTGCATTA	0.5																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	Exception_encountered	2.37:g.55177837_55177838insC	ENSP00000348842:p.Asn1379fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUB5|B6ZDG7	Frame_Shift_Ins	INS	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N1378fs	ENST00000356458.6	37	c.4134_4135	CCDS46286.1	2																																																																																			EML6	-	pfam_HELP	ENSG00000214595		0.500	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	49	0.00	0	-	XM_001725002		55177837	55177838	+1	no_errors	ENST00000356458	ensembl	human	novel	69_37n	frame_shift_ins	66	51.11	69	INS	0.999:1.000	C
EP400	57634	genome.wustl.edu	37	12	132551918	132551919	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr12:132551918_132551919insT	ENST00000333577.4	+	51	8978_8979	c.8869_8870insT	c.(8869-8871)gtgfs	p.V2957fs	EP400_ENST00000332482.4_Frame_Shift_Ins_p.V2884fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.V2840fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.V2920fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.V2921fs			Q96L91	EP400_HUMAN	E1A binding protein p400	2957					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACAGACCGTGGTGGCCCAGCCC	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8870dupT	12.37:g.132551919_132551919dupT	ENSP00000333602:p.Val2957fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A2958fs	ENST00000333577.4	37	c.8869_8870		12																																																																																			EP400	-	NULL	ENSG00000183495		0.624	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		48	0.00	0	-	NM_015409		132551918	132551919	+1	no_errors	ENST00000333577	ensembl	human	known	69_37n	frame_shift_ins	16	15.79	3	INS	1.000:1.000	T
FFAR1	2864	genome.wustl.edu	37	19	35843061	35843061	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr19:35843061G>A	ENST00000246553.2	+	1	617	c.607G>A	c.(607-609)Gtg>Atg	p.V203M		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	203					energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|positive regulation of GTPase activity (GO:0043547)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.V203M(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CTTCTGCTACGTGGGCTGCCT	0.721																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											18.0	18.0	18.0					19																	35843061		2197	4296	6493	-	-	-	SO:0001583	missense	0			AF024687	CCDS12458.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000126266	ENSG00000126266		"""GPCR / Class A : Fatty acid receptors"""	4498	protein-coding gene	gene with protein product		603820	"""G protein-coupled receptor 40"""	GPR40		15684720	Standard	NM_005303		Approved	FFA1R	uc002nzc.2	O14842		ENST00000246553.2:c.607G>A	19.37:g.35843061G>A	ENSP00000246553:p.Val203Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAS2|Q4VBL4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_GPR40_recept_FA,prints_GPR40-rel_recept,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V203M	ENST00000246553.2	37	c.607	CCDS12458.1	19	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540258	0.45176	.	.	ENSG00000126266	ENST00000246553	T	0.72394	-0.65	4.25	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.244954	0.27932	U	0.017272	T	0.49915	0.1585	N	0.21448	0.665	0.29660	N	0.843307	P	0.35328	0.495	B	0.25884	0.064	T	0.55036	-0.8203	10	0.44086	T	0.13	-12.4206	10.1329	0.42689	0.1026:0.0:0.8974:0.0	.	203	O14842	FFAR1_HUMAN	M	203	ENSP00000246553:V203M	ENSP00000246553:V203M	V	+	1	0	FFAR1	40534901	0.821000	0.29204	0.998000	0.56505	0.870000	0.49936	1.189000	0.32114	2.192000	0.70111	0.561000	0.74099	GTG	FFAR1	-	pfam_7TM_GPCR_Rhodpsn,prints_GPR40-rel_recept,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000126266		0.721	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR1	HGNC	protein_coding	OTTHUMT00000466112.2	35	0.00	0	G	NM_005303		35843061	35843061	+1	no_errors	ENST00000246553	ensembl	human	known	69_37n	missense	0	100.00	7	SNP	0.998	A
FMO5	2330	genome.wustl.edu	37	1	146680607	146680607	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr1:146680607G>T	ENST00000254090.4	-	6	1025	c.637C>A	c.(637-639)Ctc>Atc	p.L213I	FMO5_ENST00000441068.2_Missense_Mutation_p.L213I|FMO5_ENST00000465173.1_5'UTR|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000369272.3_Missense_Mutation_p.L213I|RP11-337C18.10_ENST00000606856.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	213						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CTGGTGCTGAGGAAAACCTGG	0.458																																						dbGAP											0													55.0	48.0	50.0					1																	146680607		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.637C>A	1.37:g.146680607G>T	ENSP00000254090:p.Leu213Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1	p.L213I	ENST00000254090.4	37	c.637	CCDS926.1	1	.	.	.	.	.	.	.	.	.	.	.	17.18	3.323961	0.60634	.	.	ENSG00000131781	ENST00000441068;ENST00000254090;ENST00000369272	T;T;T	0.56275	0.47;0.47;0.47	5.87	4.95	0.65309	.	0.116604	0.64402	N	0.000015	T	0.46112	0.1376	L	0.50993	1.605	0.46260	D	0.998955	B;B;P;B	0.38370	0.127;0.127;0.628;0.237	B;B;B;P	0.49597	0.239;0.421;0.434;0.616	T	0.42749	-0.9433	10	0.28530	T	0.3	-14.9919	14.1757	0.65539	0.0:0.0:0.8489:0.1511	.	213;213;213;213	Q9HA79;Q8IV22;P49326;C9JJD1	.;.;FMO5_HUMAN;.	I	213	ENSP00000416011:L213I;ENSP00000254090:L213I;ENSP00000358277:L213I	ENSP00000254090:L213I	L	-	1	0	FMO5	145147231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.089000	0.64492	1.472000	0.48140	0.585000	0.79938	CTC	FMO5	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_1	ENSG00000131781		0.458	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	HGNC	protein_coding	OTTHUMT00000040373.2	97	0.00	0	G	NM_001461		146680607	146680607	-1	no_errors	ENST00000254090	ensembl	human	known	69_37n	missense	56	50.44	57	SNP	1.000	T
GPR98	84059	genome.wustl.edu	37	5	90052316	90052316	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr5:90052316G>T	ENST00000405460.2	+	56	11722	c.11626G>T	c.(11626-11628)Gag>Tag	p.E3876*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3876					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACTATCACTGAGGTGAACCT	0.433																																						dbGAP											0													152.0	141.0	144.0					5																	90052316		1923	4143	6066	-	-	-	SO:0001587	stop_gained	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11626G>T	5.37:g.90052316G>T	ENSP00000384582:p.Glu3876*	Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E3876*	ENST00000405460.2	37	c.11626	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	51	18.247254	0.99902	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	.	.	.	5.82	3.02	0.34903	.	0.750968	0.13756	N	0.364920	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	5.8137	0.18479	0.2803:0.1307:0.5891:0.0	.	.	.	.	X	3876	.	ENSP00000296619:E3876X	E	+	1	0	GPR98	90088072	0.018000	0.18449	0.000000	0.03702	0.254000	0.26022	0.970000	0.29383	0.349000	0.23975	0.467000	0.42956	GAG	GPR98	-	NULL	ENSG00000164199		0.433	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	198	0.00	0	G	NM_032119		90052316	90052316	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	nonsense	71	54.78	86	SNP	0.000	T
GRIN1	2902	genome.wustl.edu	37	9	140052856	140052856	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr9:140052856G>C	ENST00000371561.3	+	7	2091	c.994G>C	c.(994-996)Gat>Cat	p.D332H	GRIN1_ENST00000371546.4_Missense_Mutation_p.D353H|GRIN1_ENST00000371550.4_Missense_Mutation_p.D332H|GRIN1_ENST00000315048.3_Missense_Mutation_p.D332H|GRIN1_ENST00000371555.4_Missense_Mutation_p.D353H|GRIN1_ENST00000371553.3_Missense_Mutation_p.D353H|GRIN1_ENST00000371559.4_Missense_Mutation_p.D332H|GRIN1_ENST00000371560.3_Missense_Mutation_p.D353H|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_Missense_Mutation_p.D332H	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	332					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAAGTATGCGGATGGGGTGAC	0.567																																					NSCLC(113;717 1653 2089 20474 37618)	dbGAP											0													128.0	111.0	117.0					9																	140052856		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.994G>C	9.37:g.140052856G>C	ENSP00000360616:p.Asp332His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D332H	ENST00000371561.3	37	c.994	CCDS7031.1	9	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438511	0.25900	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	D;D;D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	4.05	4.05	0.47172	Extracellular ligand-binding receptor (1);	0.216872	0.46442	D	0.000282	D	0.84683	0.5526	L	0.39898	1.24	0.58432	D	0.999998	P;B;P;P;P;B	0.45126	0.758;0.003;0.82;0.719;0.851;0.004	P;B;P;P;P;B	0.55785	0.784;0.021;0.455;0.659;0.77;0.023	D	0.85776	0.1358	10	0.52906	T	0.07	.	14.7548	0.69554	0.0:0.0:1.0:0.0	.	353;353;332;332;332;332	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	H	332;332;332;332;353;353;353;332;353	ENSP00000360616:D332H;ENSP00000316696:D332H;ENSP00000316915:D332H;ENSP00000360605:D332H;ENSP00000360601:D353H;ENSP00000360610:D353H;ENSP00000360608:D353H;ENSP00000360614:D332H;ENSP00000360615:D353H	ENSP00000316696:D332H	D	+	1	0	GRIN1	139172677	1.000000	0.71417	0.057000	0.19452	0.227000	0.25037	7.244000	0.78228	1.786000	0.52430	0.491000	0.48974	GAT	GRIN1	-	pfam_ANF_lig-bd_rcpt	ENSG00000176884		0.567	GRIN1-002	KNOWN	basic|CCDS	protein_coding	GRIN1	HGNC	protein_coding	OTTHUMT00000055267.3	26	0.00	0	G	NM_007327		140052856	140052856	+1	no_errors	ENST00000371561	ensembl	human	known	69_37n	missense	1	85.71	6	SNP	0.966	C
GYLTL1B	120071	genome.wustl.edu	37	11	45945095	45945095	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr11:45945095delG	ENST00000531526.1	+	3	468	c.357delG	c.(355-357)atgfs	p.M119fs	GYLTL1B_ENST00000389968.3_5'UTR|GYLTL1B_ENST00000536139.1_Frame_Shift_Del_p.M88fs|GYLTL1B_ENST00000325468.5_Frame_Shift_Del_p.M119fs|GYLTL1B_ENST00000529052.1_Frame_Shift_Del_p.M88fs|GYLTL1B_ENST00000401752.1_Frame_Shift_Del_p.M119fs	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	119					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		TGAAGTCCATGCTCTTCTACA	0.622																																						dbGAP											0													138.0	110.0	119.0					11																	45945095		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0				CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.357delG	11.37:g.45945095delG	ENSP00000432869:p.Met119fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Frame_Shift_Del	DEL	pfam_Glyco_trans_8	p.M119fs	ENST00000531526.1	37	c.357	CCDS31473.1	11																																																																																			GYLTL1B	-	pfam_Glyco_trans_8	ENSG00000165905		0.622	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GYLTL1B	HGNC	protein_coding	OTTHUMT00000392572.1	35	0.00	0	G	NM_152312		45945095	45945095	+1	no_errors	ENST00000325468	ensembl	human	known	69_37n	frame_shift_del	11	59.26	16	DEL	0.970	-
HDLBP	3069	genome.wustl.edu	37	2	242202140	242202140	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr2:242202140T>C	ENST00000391975.1	-	5	663	c.436A>G	c.(436-438)Aga>Gga	p.R146G	HDLBP_ENST00000427183.2_Missense_Mutation_p.R182G|HDLBP_ENST00000391976.2_Missense_Mutation_p.R146G|HDLBP_ENST00000310931.4_Missense_Mutation_p.R146G	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	146					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GTCTGCAGTCTAGCAACAATG	0.542																																						dbGAP											0													156.0	141.0	146.0					2																	242202140		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.436A>G	2.37:g.242202140T>C	ENSP00000375836:p.Arg146Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.R146G	ENST00000391975.1	37	c.436	CCDS2547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.29|12.29	1.892913|1.892913	0.33442|0.33442	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000422933;ENST00000428482;ENST00000452065;ENST00000444092|ENST00000373292	T;T;T;T;T;T;T;T|.	0.63913|.	1.06;1.06;1.06;1.06;1.06;1.06;-0.07;0.55|.	5.71|5.71	-6.73|-6.73	0.01749|0.01749	.|.	0.052935|.	0.85682|.	D|.	0.000000|.	T|.	0.59473|.	0.2196|.	L|L	0.53729|0.53729	1.69|1.69	0.19575|0.19575	N|N	0.999964|0.999964	B;B|.	0.21071|.	0.001;0.051|.	B;B|.	0.19148|.	0.005;0.024|.	T|.	0.58020|.	-0.7710|.	10|.	0.23891|.	T|.	0.37|.	-13.9219|-13.9219	24.368|24.368	0.99989|0.99989	0.0:0.0:0.7844:0.2156|0.0:0.0:0.7844:0.2156	.|.	182;146|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	G|W	146;146;146;182;146;146;146;146|23	ENSP00000375836:R146G;ENSP00000375837:R146G;ENSP00000312042:R146G;ENSP00000399139:R182G;ENSP00000403807:R146G;ENSP00000405109:R146G;ENSP00000387782:R146G;ENSP00000416559:R146G|.	ENSP00000312042:R146G|.	R|X	-|-	1|2	2|0	HDLBP|HDLBP	241850813|241850813	0.706000|0.706000	0.27856|0.27856	0.012000|0.012000	0.15200|0.15200	0.988000|0.988000	0.76386|0.76386	0.694000|0.694000	0.25512|0.25512	-0.939000|-0.939000	0.03709|0.03709	0.533000|0.533000	0.62120|0.62120	AGA|TAG	HDLBP	-	NULL	ENSG00000115677		0.542	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	281	0.00	0	T	NM_203346		242202140	242202140	-1	no_errors	ENST00000310931	ensembl	human	known	69_37n	missense	129	37.38	77	SNP	0.030	C
HELZ	9931	genome.wustl.edu	37	17	65184713	65184713	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr17:65184713C>T	ENST00000358691.5	-	12	1050	c.884G>A	c.(883-885)cGt>cAt	p.R295H	HELZ_ENST00000580662.1_5'Flank|HELZ_ENST00000580168.1_Missense_Mutation_p.R295H	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	295						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CAATGCTACACGATACAGCAT	0.378																																						dbGAP											0													105.0	94.0	97.0					17																	65184713		1906	4133	6039	-	-	-	SO:0001583	missense	0			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.884G>A	17.37:g.65184713C>T	ENSP00000351524:p.Arg295His	Somatic		WXS	Illumina GAIIx	Phase_IV	I6L9H4	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R295H	ENST00000358691.5	37	c.884	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759973	0.49468	.	.	ENSG00000198265	ENST00000358691;ENST00000417253	D;T	0.83837	-1.77;1.44	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	L	0.28694	0.88	0.80722	D	1	P;B	0.50710	0.938;0.19	B;B	0.39094	0.29;0.087	T	0.75360	-0.3345	10	0.30854	T	0.27	-15.3164	19.6932	0.96010	0.0:1.0:0.0:0.0	.	295;295	B7ZLW2;P42694	.;HELZ_HUMAN	H	295	ENSP00000351524:R295H;ENSP00000411144:R295H	ENSP00000351524:R295H	R	-	2	0	HELZ	62615175	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.952000	0.75989	2.664000	0.90586	0.655000	0.94253	CGT	HELZ	-	NULL	ENSG00000198265		0.378	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	57	0.00	0	C	NM_014877		65184713	65184713	-1	no_errors	ENST00000358691	ensembl	human	known	69_37n	missense	14	78.12	50	SNP	1.000	T
IDH3G	3421	genome.wustl.edu	37	X	153055671	153055671	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chrX:153055671A>G	ENST00000217901.5	-	4	408	c.212T>C	c.(211-213)cTg>cCg	p.L71P	IDH3G_ENST00000370092.3_Missense_Mutation_p.L71P|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000370093.1_Missense_Mutation_p.L71P|IDH3G_ENST00000427365.2_Missense_Mutation_p.L13P	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	71					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGACATGCAGCATGAGCTC	0.637																																						dbGAP											0													109.0	79.0	89.0					X																	153055671		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.212T>C	X.37:g.153055671A>G	ENSP00000217901:p.Leu71Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDD5|Q9BUU5	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.L71P	ENST00000217901.5	37	c.212	CCDS14730.1	X	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466626	0.26335	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000370093;ENST00000427365;ENST00000444450	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	4.72	4.72	0.59763	Isopropylmalate dehydrogenase-like domain (2);	0.206931	0.40469	N	0.001098	T	0.32164	0.0820	N	0.01003	-1.06	0.51482	D	0.999923	D;D	0.55800	0.973;0.973	P;P	0.57846	0.828;0.773	T	0.46898	-0.9158	10	0.27785	T	0.31	.	12.5502	0.56222	1.0:0.0:0.0:0.0	.	71;71	E9PDD5;P51553	.;IDH3G_HUMAN	P	71;71;71;13;48	ENSP00000359110:L71P;ENSP00000217901:L71P;ENSP00000359111:L71P;ENSP00000408529:L13P;ENSP00000401862:L48P	ENSP00000217901:L71P	L	-	2	0	IDH3G	152708865	0.962000	0.33011	0.929000	0.37066	0.055000	0.15305	2.112000	0.41892	1.670000	0.50864	0.430000	0.28490	CTG	IDH3G	-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	ENSG00000067829		0.637	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3G	HGNC	protein_coding	OTTHUMT00000061084.27	46	0.00	0	A			153055671	153055671	-1	no_errors	ENST00000217901	ensembl	human	known	69_37n	missense	15	37.50	9	SNP	0.943	G
IGF2R	3482	genome.wustl.edu	37	6	160489290	160489290	+	Silent	SNP	T	T	C			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr6:160489290T>C	ENST00000356956.1	+	30	4273	c.4125T>C	c.(4123-4125)gcT>gcC	p.A1375A		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1375					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GAGATGGGGCTGGCAACTCCT	0.507																																						dbGAP											0													121.0	118.0	119.0					6																	160489290		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4125T>C	6.37:g.160489290T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z7G9|Q96PT5	Silent	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.A1375	ENST00000356956.1	37	c.4125	CCDS5273.1	6																																																																																			IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.507	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	102	0.97	1	T	NM_000876		160489290	160489290	+1	no_errors	ENST00000356956	ensembl	human	known	69_37n	silent	63	13.70	10	SNP	1.000	C
ISLR2	57611	genome.wustl.edu	37	15	74425224	74425224	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr15:74425224delT	ENST00000361742.3	+	4	898	c.129delT	c.(127-129)cgtfs	p.R43fs	ISLR2_ENST00000565159.1_Frame_Shift_Del_p.R43fs|ISLR2_ENST00000565540.1_Frame_Shift_Del_p.R43fs|ISLR2_ENST00000435464.1_Frame_Shift_Del_p.R43fs|ISLR2_ENST00000419208.1_Frame_Shift_Del_p.R43fs|ISLR2_ENST00000445793.1_Frame_Shift_Del_p.R43fs|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Frame_Shift_Del_p.R43fs	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	43	LRRNT.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						AAGAGTTGCGTGAGGTGCCGG	0.637																																						dbGAP											0													84.0	72.0	76.0					15																	74425224		2198	4297	6495	-	-	-	SO:0001589	frameshift_variant	0				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.129delT	15.37:g.74425224delT	ENSP00000355402:p.Arg43fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K352|Q9P263	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like	p.E44fs	ENST00000361742.3	37	c.129	CCDS10259.1	15																																																																																			ISLR2	-	NULL	ENSG00000167178		0.637	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR2	HGNC	protein_coding	OTTHUMT00000269046.1	109	0.00	0	T	NM_020851		74425224	74425224	+1	no_errors	ENST00000361742	ensembl	human	known	69_37n	frame_shift_del	42	30.00	18	DEL	0.973	-
KIFC3	3801	genome.wustl.edu	37	16	57790846	57790847	+	IGR	INS	-	-	G			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr16:57790846_57790847insG	ENST00000379655.4	-	0	3427				KATNB1_ENST00000379661.3_Frame_Shift_Ins_p.S653fs	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3						ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TGCTCATGGCCAGTCTGGACTG	0.649																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455		16.37:g.57790846_57790847insG		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Frame_Shift_Ins	INS	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S652fs	ENST00000379655.4	37	c.1956_1957	CCDS10789.2	16																																																																																			KATNB1	-	NULL	ENSG00000140854		0.649	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KATNB1	HGNC	protein_coding	OTTHUMT00000257329.2	8	0.00	0	-	NM_005550		57790846	57790847	+1	no_errors	ENST00000379661	ensembl	human	known	69_37n	frame_shift_ins	3	70.00	7	INS	0.868:0.394	G
KCNA5	3741	genome.wustl.edu	37	12	5153647	5153647	+	Silent	SNP	C	C	T			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr12:5153647C>T	ENST00000252321.3	+	1	563	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	112					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GGACCAGGCTCTGGGCACGGC	0.697																																						dbGAP											0													25.0	25.0	25.0					12																	5153647		2200	4297	6497	-	-	-	SO:0001819	synonymous_variant	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.334C>T	12.37:g.5153647C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.L112	ENST00000252321.3	37	c.334	CCDS8536.1	12																																																																																			KCNA5	-	NULL	ENSG00000130037		0.697	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	31	0.00	0	C	NM_002234		5153647	5153647	+1	no_errors	ENST00000252321	ensembl	human	known	69_37n	silent	8	52.94	9	SNP	0.003	T
KIAA2026	158358	genome.wustl.edu	37	9	6007235	6007235	+	Silent	SNP	G	G	A			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr9:6007235G>A	ENST00000399933.3	-	1	552	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	MIR4665_ENST00000581132.1_RNA|KIAA2026_ENST00000381461.2_Silent_p.L185L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	185										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATCATCTCCAGCTTCTGGCCC	0.597																																						dbGAP											0													79.0	88.0	85.0					9																	6007235		2117	4228	6345	-	-	-	SO:0001819	synonymous_variant	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.553C>T	9.37:g.6007235G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	superfamily_Bromodomain	p.L185	ENST00000399933.3	37	c.553		9																																																																																			KIAA2026	-	superfamily_Bromodomain	ENSG00000183354		0.597	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	34	0.00	0	G	NM_001017969		6007235	6007235	-1	no_errors	ENST00000399933	ensembl	human	novel	69_37n	silent	3	76.92	10	SNP	1.000	A
LRP12	29967	genome.wustl.edu	37	8	105503535	105503535	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr8:105503535G>A	ENST00000276654.5	-	7	2054	c.1946C>T	c.(1945-1947)tCc>tTc	p.S649F	LRP12_ENST00000424843.2_Missense_Mutation_p.S630F|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	649					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGACTCCACGGAAAACAAACT	0.478																																						dbGAP											0													89.0	86.0	87.0					8																	105503535		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1946C>T	8.37:g.105503535G>A	ENSP00000276654:p.Ser649Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.S630F	ENST00000276654.5	37	c.1889	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.192760	0.94960	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	D;D	0.86694	-2.16;-2.09	6.02	6.02	0.97574	.	0.050608	0.85682	D	0.000000	D	0.87661	0.6233	N	0.19112	0.55	0.80722	D	1	D;D	0.61080	0.983;0.989	P;P	0.56700	0.804;0.726	D	0.88629	0.3168	10	0.66056	D	0.02	-21.5679	20.5373	0.99239	0.0:0.0:1.0:0.0	.	630;649	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	F	630;649	ENSP00000399148:S630F;ENSP00000276654:S649F	ENSP00000276654:S649F	S	-	2	0	LRP12	105572711	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.145000	0.94634	2.857000	0.98124	0.650000	0.86243	TCC	LRP12	-	NULL	ENSG00000147650		0.478	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	168	0.00	0	G	NM_013437		105503535	105503535	-1	no_errors	ENST00000424843	ensembl	human	known	69_37n	missense	306	17.30	64	SNP	1.000	A
MAML3	55534	genome.wustl.edu	37	4	140811603	140811603	+	Silent	SNP	G	G	A			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr4:140811603G>A	ENST00000509479.2	-	2	1843	c.987C>T	c.(985-987)ttC>ttT	p.F329F	MAML3_ENST00000327122.5_Silent_p.F173F|MAML3_ENST00000398940.1_5'Flank	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					AGTCTTCGTTGAACAGGTCCT	0.493																																						dbGAP											0													83.0	80.0	81.0					4																	140811603		1934	4149	6083	-	-	-	SO:0001819	synonymous_variant	0			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.987C>T	4.37:g.140811603G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.F329	ENST00000509479.2	37	c.987	CCDS54805.1	4																																																																																			MAML3	-	NULL	ENSG00000196782		0.493	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	388	0.00	0	G			140811603	140811603	-1	no_errors	ENST00000509479	ensembl	human	known	69_37n	silent	259	13.38	40	SNP	1.000	A
MKI67	4288	genome.wustl.edu	37	10	129921415	129921415	+	Silent	SNP	G	G	A			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr10:129921415G>A	ENST00000368654.3	-	3	486	c.111C>T	c.(109-111)atC>atT	p.I37I	MKI67_ENST00000368653.3_Silent_p.I37I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	37	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGGATACGGATGTCACATT	0.343																																						dbGAP											0													94.0	90.0	91.0					10																	129921415		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.111C>T	10.37:g.129921415G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWH2	Silent	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.I37	ENST00000368654.3	37	c.111	CCDS7659.1	10																																																																																			MKI67	-	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	ENSG00000148773		0.343	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	136	0.00	0	G	NM_002417		129921415	129921415	-1	no_errors	ENST00000368654	ensembl	human	known	69_37n	silent	64	42.86	48	SNP	0.933	A
MNAT1	4331	genome.wustl.edu	37	14	61285489	61285489	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr14:61285489G>C	ENST00000261245.4	+	6	712	c.611G>C	c.(610-612)aGa>aCa	p.R204T	MNAT1_ENST00000539616.2_Intron	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	204					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		CATAAAGATAGATCTACCCAA	0.363								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													76.0	77.0	77.0					14																	61285489		2203	4300	6503	-	-	-	SO:0001583	missense	0			X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"""RING-type (C3HC4) zinc fingers"", ""General transcription factor IIH complex subunits"""	7181	protein-coding gene	gene with protein product	"""CDK-activating kinase assembly factor"""	602659	"""menage a trois 1 (CAK assembly factor)"", ""menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"""			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.611G>C	14.37:g.61285489G>C	ENSP00000261245:p.Arg204Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V1U8|Q15817|Q6ICQ7	Missense_Mutation	SNP	pirsf_MAT1_metazoa,pfam_Cdk-activating_kinase_MAT1_cen,smart_Znf_RING,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING,tigrfam_MAT1	p.R204T	ENST00000261245.4	37	c.611	CCDS9750.1	14	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790740	0.31685	.	.	ENSG00000020426	ENST00000261245;ENST00000554002;ENST00000557134	T;T	0.45668	0.92;0.89	5.87	4.04	0.47022	Cdk-activating kinase assembly factor MAT1, centre (1);	0.043838	0.85682	D	0.000000	T	0.31295	0.0792	L	0.37850	1.14	0.80722	D	1	P	0.43231	0.801	B	0.37780	0.258	T	0.08269	-1.0730	10	0.33940	T	0.23	-6.0627	12.4166	0.55496	0.1354:0.0:0.8646:0.0	.	204	P51948	MAT1_HUMAN	T	204;99;64	ENSP00000261245:R204T;ENSP00000451017:R64T	ENSP00000261245:R204T	R	+	2	0	MNAT1	60355242	1.000000	0.71417	0.998000	0.56505	0.548000	0.35241	5.598000	0.67585	1.632000	0.50472	-0.140000	0.14226	AGA	MNAT1	-	pirsf_MAT1_metazoa,pfam_Cdk-activating_kinase_MAT1_cen,tigrfam_MAT1	ENSG00000020426		0.363	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNAT1	HGNC	protein_coding	OTTHUMT00000276956.1	192	0.00	0	G	NM_002431		61285489	61285489	+1	no_errors	ENST00000261245	ensembl	human	known	69_37n	missense	244	13.17	37	SNP	1.000	C
MUC16	94025	genome.wustl.edu	37	19	9084121	9084121	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr19:9084121G>A	ENST00000397910.4	-	1	7897	c.7694C>T	c.(7693-7695)aCg>aTg	p.T2565M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2565	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTTCACTCGTAGTGAGAAG	0.502																																						dbGAP											0													168.0	164.0	165.0					19																	9084121		2050	4208	6258	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7694C>T	19.37:g.9084121G>A	ENSP00000381008:p.Thr2565Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T2565M	ENST00000397910.4	37	c.7694	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	0.107	-1.143267	0.01728	.	.	ENSG00000181143	ENST00000397910	T	0.02579	4.24	0.225	-0.451	0.12214	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.45891	-0.9230	7	0.87932	D	0	.	.	.	.	.	2565	B5ME49	.	M	2565	ENSP00000381008:T2565M	ENSP00000381008:T2565M	T	-	2	0	MUC16	8945121	0.036000	0.19791	0.146000	0.22360	0.147000	0.21601	0.003000	0.13083	-0.945000	0.03681	-0.979000	0.02580	ACG	MUC16	-	NULL	ENSG00000181143		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	738	0.14	1	G	NM_024690		9084121	9084121	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	606	28.03	236	SNP	0.183	A
MYT1L	23040	genome.wustl.edu	37	2	1843052	1843052	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr2:1843052C>G	ENST00000399161.2	-	21	3696	c.2949G>C	c.(2947-2949)aaG>aaC	p.K983N	MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000428368.2_Missense_Mutation_p.K981N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	983					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTTTCTGCCTCTTGGCCGCCA	0.667																																						dbGAP											0													44.0	51.0	49.0					2																	1843052		2011	4155	6166	-	-	-	SO:0001583	missense	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2949G>C	2.37:g.1843052C>G	ENSP00000382114:p.Lys983Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.K983N	ENST00000399161.2	37	c.2949		2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947830	0.73787	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000399157;ENST00000428368	T;T	0.54279	0.58;0.58	5.76	3.73	0.42828	.	0.043108	0.85682	N	0.000000	T	0.68311	0.2987	M	0.82193	2.58	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.67280	-0.5710	10	0.72032	D	0.01	-50.7988	3.4333	0.07436	0.0:0.4612:0.2522:0.2867	.	983;981	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	N	983;929;37;981	ENSP00000382114:K983N;ENSP00000396103:K981N	ENSP00000295067:K929N	K	-	3	2	MYT1L	1822059	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.407000	0.44565	0.640000	0.30582	0.563000	0.77884	AAG	MYT1L	-	NULL	ENSG00000186487		0.667	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	33	0.00	0	C	NM_015025		1843052	1843052	-1	no_errors	ENST00000399161	ensembl	human	known	69_37n	missense	53	17.19	11	SNP	1.000	G
NARFL	64428	genome.wustl.edu	37	16	787259	787260	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr16:787259_787260insC	ENST00000251588.2	-	3	248_249	c.232_233insG	c.(232-234)atcfs	p.I78fs	NARFL_ENST00000301694.5_Frame_Shift_Ins_p.I78fs|NARFL_ENST00000568545.1_5'UTR|NARFL_ENST00000540986.1_5'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	78					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				TGCGGAGGTGATGCAGCCGCTG	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.232_233insG	16.37:g.787259_787260insC	ENSP00000251588:p.Ile78fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Frame_Shift_Ins	INS	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.I78fs	ENST00000251588.2	37	c.233_232	CCDS10425.1	16																																																																																			NARFL	-	superfamily_Fe_hydrogenase	ENSG00000103245		0.609	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARFL	HGNC	protein_coding	OTTHUMT00000242855.1	16	0.00	0	-	NM_022493		787259	787260	-1	no_errors	ENST00000251588	ensembl	human	known	69_37n	frame_shift_ins	11	47.62	10	INS	1.000:1.000	C
NAT8	9027	genome.wustl.edu	37	2	73868674	73868674	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr2:73868674G>T	ENST00000272425.3	-	2	231	c.82C>A	c.(82-84)Cat>Aat	p.H28N		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GCTGGGGCATGCTCGGCCATC	0.612																																						dbGAP											0													75.0	87.0	83.0					2																	73868674		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.82C>A	2.37:g.73868674G>T	ENSP00000272425:p.His28Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.H28N	ENST00000272425.3	37	c.82	CCDS1926.1	2	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495107	0.26774	.	.	ENSG00000144035	ENST00000272425	T	0.32272	1.46	3.86	-0.353	0.12594	.	0.226724	0.44285	N	0.000469	T	0.23846	0.0577	M	0.61703	1.905	0.29928	N	0.82215	B	0.18013	0.025	B	0.19391	0.025	T	0.11991	-1.0565	10	0.30854	T	0.27	-16.3548	4.3645	0.11218	0.1875:0.0:0.5035:0.309	.	28	Q9UHE5	NAT8_HUMAN	N	28	ENSP00000272425:H28N	ENSP00000272425:H28N	H	-	1	0	NAT8	73722182	0.999000	0.42202	0.013000	0.15412	0.001000	0.01503	0.996000	0.29719	-0.191000	0.10448	-0.195000	0.12781	CAT	NAT8	-	NULL	ENSG00000144035		0.612	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT8	HGNC	protein_coding	OTTHUMT00000327854.1	94	0.00	0	G	NM_003960		73868674	73868674	-1	no_errors	ENST00000272425	ensembl	human	known	69_37n	missense	63	18.18	14	SNP	0.987	T
NUDT14	256281	genome.wustl.edu	37	14	105639485	105639485	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr14:105639485delA	ENST00000392568.2	-	5	635	c.542delT	c.(541-543)gtgfs	p.V182fs	RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'UTR	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	182	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CAGGTGCACCACCTCAATGAG	0.622										HNSCC(42;0.11)																												dbGAP											0													86.0	76.0	80.0					14																	105639485		2201	4297	6498	-	-	-	SO:0001589	frameshift_variant	0			AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"""Nudix motif containing"""	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.542delT	14.37:g.105639485delA	ENSP00000376349:p.Val182fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SJ8	Frame_Shift_Del	DEL	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase	p.V181fs	ENST00000392568.2	37	c.542	CCDS10000.1	14																																																																																			NUDT14	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase	ENSG00000183828		0.622	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT14	HGNC	protein_coding	OTTHUMT00000074544.4	8	0.00	0	A	NM_177533		105639485	105639485	-1	no_errors	ENST00000392568	ensembl	human	known	69_37n	frame_shift_del	5	61.54	8	DEL	0.975	-
NXF3	56000	genome.wustl.edu	37	X	102339332	102339332	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chrX:102339332G>C	ENST00000395065.3	-	3	390	c.289C>G	c.(289-291)Cca>Gca	p.P97A	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.P8A	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	97					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTTCTCTCTGGAGGTTTTTGC	0.473																																						dbGAP											0													218.0	171.0	187.0					X																	102339332		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.289C>G	X.37:g.102339332G>C	ENSP00000378504:p.Pro97Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.P97A	ENST00000395065.3	37	c.289	CCDS14503.1	X	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298071	0.40694	.	.	ENSG00000147206	ENST00000395065;ENST00000425463	T;T	0.43688	0.94;0.97	3.69	3.69	0.42338	.	0.617693	0.16273	N	0.221694	T	0.48277	0.1491	L	0.47190	1.495	0.09310	N	1	D;B	0.89917	1.0;0.378	D;B	0.68353	0.957;0.271	T	0.32613	-0.9900	10	0.06757	T	0.87	-4.9866	9.9871	0.41847	0.0:0.0:1.0:0.0	.	97;97	B4DYI1;Q9H4D5	.;NXF3_HUMAN	A	97;8	ENSP00000378504:P97A;ENSP00000404347:P8A	ENSP00000378504:P97A	P	-	1	0	NXF3	102225988	0.001000	0.12720	0.166000	0.22797	0.013000	0.08279	0.530000	0.23036	2.108000	0.64289	0.544000	0.68410	CCA	NXF3	-	NULL	ENSG00000147206		0.473	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF3	HGNC	protein_coding	OTTHUMT00000057684.1	362	0.00	0	G	NM_022052		102339332	102339332	-1	no_errors	ENST00000395065	ensembl	human	known	69_37n	missense	173	34.34	91	SNP	0.143	C
OR5A1	219982	genome.wustl.edu	37	11	59211431	59211431	+	Nonsense_Mutation	SNP	C	C	T	rs199856591		TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr11:59211431C>T	ENST00000302030.2	+	1	815	c.790C>T	c.(790-792)Cga>Tga	p.R264*		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R264*(2)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CGTGTACTTGCGACCCAGCTC	0.527																																						dbGAP											2	Substitution - Nonsense(2)	lung(1)|prostate(1)											251.0	204.0	220.0					11																	59211431		2201	4295	6496	-	-	-	SO:0001587	stop_gained	0			AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.790C>T	11.37:g.59211431C>T	ENSP00000303096:p.Arg264*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH58|Q6IFF2|Q96RB1	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R264*	ENST00000302030.2	37	c.790	CCDS31561.1	11	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271770	0.80469	.	.	ENSG00000172320	ENST00000302030	.	.	.	5.98	1.81	0.25067	.	0.186698	0.26463	N	0.024228	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0716	15.3047	0.73982	0.6461:0.3539:0.0:0.0	.	.	.	.	X	264	.	ENSP00000303096:R264X	R	+	1	2	OR5A1	58968007	0.000000	0.05858	0.978000	0.43139	0.936000	0.57629	-0.209000	0.09358	0.064000	0.16427	0.650000	0.86243	CGA	OR5A1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172320		0.527	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5A1	HGNC	protein_coding	OTTHUMT00000394233.1	522	0.00	0	C	NM_001004728		59211431	59211431	+1	no_errors	ENST00000302030	ensembl	human	known	69_37n	nonsense	284	46.12	244	SNP	0.337	T
PDE6A	5145	genome.wustl.edu	37	5	149310672	149310672	+	Silent	SNP	G	G	A			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr5:149310672G>A	ENST00000255266.5	-	4	896	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	259	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	GGGCTTTGTGGAACTGTCGTT	0.443																																						dbGAP											0													155.0	127.0	136.0					5																	149310672		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.777C>T	5.37:g.149310672G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P638	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.F259	ENST00000255266.5	37	c.777	CCDS4299.1	5																																																																																			PDE6A	-	pfam_GAF,smart_GAF	ENSG00000132915		0.443	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	HGNC	protein_coding	OTTHUMT00000252326.2	199	0.00	0	G			149310672	149310672	-1	no_errors	ENST00000255266	ensembl	human	known	69_37n	silent	53	52.25	58	SNP	1.000	A
PDHA1	5160	genome.wustl.edu	37	X	19371264	19371264	+	Silent	SNP	C	C	T	rs398123300		TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chrX:19371264C>T	ENST00000422285.2	+	5	588	c.483C>T	c.(481-483)taC>taT	p.Y161Y	PDHA1_ENST00000379805.3_Silent_p.Y161Y|PDHA1_ENST00000379804.1_5'Flank|PDHA1_ENST00000545074.1_Silent_p.Y168Y|PDHA1_ENST00000379806.5_Silent_p.Y199Y|PDHA1_ENST00000540249.1_Silent_p.Y161Y			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	161					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					AGAACTTCTACGGGGGCAATG	0.488																																						dbGAP											0			GRCh37	CS080731	PDHA1	S							212.0	159.0	177.0					X																	19371264		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.483C>T	X.37:g.19371264C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Silent	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.Y199	ENST00000422285.2	37	c.597	CCDS14192.1	X																																																																																			PDHA1	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	ENSG00000131828		0.488	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDHA1	HGNC	protein_coding	OTTHUMT00000055977.1	446	0.00	0	C			19371264	19371264	+1	no_errors	ENST00000379806	ensembl	human	known	69_37n	silent	268	21.80	75	SNP	0.996	T
PIF1	80119	genome.wustl.edu	37	15	65110250	65110251	+	In_Frame_Ins	INS	-	-	GAA			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr15:65110250_65110251insGAA	ENST00000268043.4	-	11	1662_1663	c.1568_1569insTTC	c.(1567-1569)gtc>gtTTCc	p.523_524insS	PIF1_ENST00000333425.6_In_Frame_Ins_p.523_524insS|PIF1_ENST00000559239.1_In_Frame_Ins_p.523_524insS					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						CAGCGTGGATGACCTCAGTGAC	0.634																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"""chromosome 15 open reading frame 20"", ""PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"""	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1568_1569insTTC	15.37:g.65110250_65110251insGAA	ENSP00000268043:p.Val523_Ile524insSer	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Ins	INS	pfam_DNA_helicase_PIF1,pfam_DNA_helicase	p.524in_frame_insS	ENST00000268043.4	37	c.1569_1568	CCDS10195.2	15																																																																																			PIF1	-	pfam_DNA_helicase_PIF1	ENSG00000140451		0.634	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIF1	HGNC	protein_coding	OTTHUMT00000256533.1	104	0.00	0	-	NM_025049		65110250	65110251	-1	no_errors	ENST00000333425	ensembl	human	known	69_37n	in_frame_ins	47	40.51	32	INS	1.000:1.000	GAA
PLCL2	23228	genome.wustl.edu	37	3	17053177	17053177	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr3:17053177A>T	ENST00000418129.2	+	2	2426	c.1961A>T	c.(1960-1962)gAt>gTt	p.D654V	PLCL2_ENST00000432376.1_Missense_Mutation_p.D654V|PLCL2_ENST00000396755.2_Missense_Mutation_p.D654V	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	780	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GATGTGGTAGATCCTTATGTC	0.453																																						dbGAP											0													77.0	76.0	77.0					3																	17053177		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1961A>T	3.37:g.17053177A>T	ENSP00000409637:p.Asp654Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.D654V	ENST00000418129.2	37	c.1961	CCDS33713.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.47|11.47	1.649453|1.649453	0.29336|0.29336	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376|ENST00000419842	T;T;T|.	0.77489|.	-1.1;-1.1;-1.1|.	4.96|4.96	4.96|4.96	0.65561|0.65561	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.045909|.	0.85682|.	D|.	0.000000|.	T|T	0.70745|0.70745	0.3259|0.3259	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.83275|.	0.996|.	T|T	0.70502|0.70502	-0.4854|-0.4854	9|4	0.87932|.	D|.	0|.	.|.	14.9278|14.9278	0.70893|0.70893	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	780|.	Q9UPR0|.	PLCL2_HUMAN|.	V|F	654;781;654;654|398	ENSP00000409637:D654V;ENSP00000379979:D654V;ENSP00000412836:D654V|.	ENSP00000285094:D781V|.	D|I	+|+	2|1	0|0	PLCL2|PLCL2	17028181|17028181	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.060000|0.060000	0.15804|0.15804	9.287000|9.287000	0.95975|0.95975	1.983000|1.983000	0.57843|0.57843	0.459000|0.459000	0.35465|0.35465	GAT|ATC	PLCL2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000154822		0.453	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	HGNC	protein_coding	OTTHUMT00000340250.3	171	0.00	0	A			17053177	17053177	+1	no_errors	ENST00000418129	ensembl	human	known	69_37n	missense	99	50.75	102	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	106	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	144	33.33	72	SNP	1.000	A
PLEKHG2	64857	genome.wustl.edu	37	19	39905655	39905656	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr19:39905655_39905656insC	ENST00000409794.3	+	3	983_984	c.133_134insC	c.(133-135)tccfs	p.S45fs	PLEKHG2_ENST00000378550.1_Frame_Shift_Ins_p.S45fs|PLEKHG2_ENST00000409797.2_Frame_Shift_Ins_p.S45fs|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000425673.1_Frame_Shift_Ins_p.S45fs	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	45					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CACCATGGCCTCCCCCCGAGGT	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.139dupC	19.37:g.39905661_39905661dupC	ENSP00000386733:p.Ser45fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Frame_Shift_Ins	INS	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R47fs	ENST00000409794.3	37	c.133_134	CCDS33022.2	19																																																																																			PLEKHG2	-	NULL	ENSG00000090924		0.649	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	HGNC	protein_coding	OTTHUMT00000326802.1	15	0.00	0	-	NM_022835		39905655	39905656	+1	no_errors	ENST00000409794	ensembl	human	known	69_37n	frame_shift_ins	6	33.33	3	INS	1.000:1.000	C
RNF133	168433	genome.wustl.edu	37	7	122338268	122338268	+	Silent	SNP	T	T	G			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr7:122338268T>G	ENST00000340112.2	-	1	942	c.705A>C	c.(703-705)ggA>ggC	p.G235G	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	235					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GTTGGAGTTGTCCAAATGTGT	0.383																																					Colon(198;1778 2057 7449 19869 45985)	dbGAP											0													158.0	151.0	153.0					7																	122338268		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.705A>C	7.37:g.122338268T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0W2|Q8N7G7	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G235	ENST00000340112.2	37	c.705	CCDS5784.1	7																																																																																			RNF133	-	NULL	ENSG00000188050		0.383	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF133	HGNC	protein_coding	OTTHUMT00000347413.1	212	0.00	0	T	NM_139175		122338268	122338268	-1	no_errors	ENST00000340112	ensembl	human	known	69_37n	silent	149	39.92	99	SNP	0.025	G
PRRT4	401399	genome.wustl.edu	37	7	127999474	127999474	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr7:127999474G>A	ENST00000446477.2	-	3	885	c.572C>T	c.(571-573)aCg>aTg	p.T191M	PRRT4_ENST00000489835.2_Missense_Mutation_p.T191M|PRRT4_ENST00000535159.1_Missense_Mutation_p.T191M|PRRT4_ENST00000435512.1_Missense_Mutation_p.T191M	NM_001174164.1	NP_001167635.1	C9JH25	PRRT4_HUMAN	proline-rich transmembrane protein 4	191						integral component of membrane (GO:0016021)				endometrium(4)|prostate(1)	5						ATGCCCAAGCGTGGGGGCTGC	0.647																																						dbGAP											0													24.0	26.0	26.0					7																	127999474		692	1591	2283	-	-	-	SO:0001583	missense	0			BC063892	CCDS47698.1, CCDS47698.2, CCDS55160.1	7q32.1	2011-10-10			ENSG00000224940	ENSG00000224940		"""Proline-rich transmembrane proteins"""	37280	protein-coding gene	gene with protein product							Standard	NM_001114726		Approved		uc022aky.1	C9JH25	OTTHUMG00000157714	ENST00000446477.2:c.572C>T	7.37:g.127999474G>A	ENSP00000415026:p.Thr191Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0Z9|C9JVW7	Missense_Mutation	SNP	NULL	p.T191M	ENST00000446477.2	37	c.572	CCDS55160.1	7	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902799	0.33628	.	.	ENSG00000224940	ENST00000489835;ENST00000446477;ENST00000535159;ENST00000435512;ENST00000489517;ENST00000464607;ENST00000495931	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	T	0.51193	0.1660	N	0.22421	0.69	0.26435	N	0.975875	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.47058	-0.9146	8	0.87932	D	0	-21.3307	13.7943	0.63162	0.0:0.0:1.0:0.0	.	191;191	C9JH25;C9JH25-2	PRRT4_HUMAN;.	M	191	.	ENSP00000410779:T191M	T	-	2	0	PRRT4	127786710	0.995000	0.38212	0.934000	0.37439	0.120000	0.20174	3.345000	0.52182	2.340000	0.79590	0.585000	0.79938	ACG	PRRT4	-	NULL	ENSG00000224940		0.647	PRRT4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT4	HGNC	protein_coding		83	0.00	0	G	NM_001114726		127999474	127999474	-1	no_errors	ENST00000446477	ensembl	human	known	69_37n	missense	21	44.74	17	SNP	0.973	A
SALL1	6299	genome.wustl.edu	37	16	51174941	51174941	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr16:51174941C>T	ENST00000251020.4	-	2	1225	c.1192G>A	c.(1192-1194)Gct>Act	p.A398T	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_Missense_Mutation_p.A301T	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	398					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACCGAGTTAGCGGAGGCTTGC	0.502																																					GBM(103;1352 1446 1855 4775 8890)	dbGAP											0													89.0	93.0	91.0					16																	51174941		2198	4300	6498	-	-	-	SO:0001583	missense	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1192G>A	16.37:g.51174941C>T	ENSP00000251020:p.Ala398Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A398T	ENST00000251020.4	37	c.1192	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	c	11.99	1.804111	0.31869	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07327	3.2;3.21	5.18	4.23	0.50019	.	0.250702	0.46758	N	0.000266	T	0.03651	0.0104	N	0.08118	0	0.24873	N	0.992279	B	0.28258	0.205	B	0.19666	0.026	T	0.41288	-0.9517	10	0.24483	T	0.36	.	6.5361	0.22355	0.0:0.6875:0.0:0.3125	.	398	Q9NSC2	SALL1_HUMAN	T	398;301;362	ENSP00000251020:A398T;ENSP00000407914:A301T	ENSP00000251020:A398T	A	-	1	0	SALL1	49732442	1.000000	0.71417	0.991000	0.47740	0.844000	0.47949	2.892000	0.48625	1.174000	0.42811	-0.213000	0.12676	GCT	SALL1	-	NULL	ENSG00000103449		0.502	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	246	0.40	1	C	NM_002968		51174941	51174941	-1	no_errors	ENST00000251020	ensembl	human	known	69_37n	missense	217	10.66	26	SNP	0.999	T
SHANK2	22941	genome.wustl.edu	37	11	70332712	70332713	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr11:70332712_70332713insA	ENST00000423696.2	-	15	2584_2585	c.2548_2549insT	c.(2548-2550)gagfs	p.E850fs	SHANK2_ENST00000409161.1_Frame_Shift_Ins_p.E633fs|SHANK2_ENST00000449833.2_Frame_Shift_Ins_p.E634fs|SHANK2_ENST00000338508.4_Frame_Shift_Ins_p.E1230fs			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	850					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTGTTGAGACTCCTTCATGGCT	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2548_2549insT	11.37:g.70332712_70332713insA	ENSP00000394536:p.Glu850fs	Somatic		WXS	Illumina GAIIx	Phase_IV	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Frame_Shift_Ins	INS	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.E1230fs	ENST00000423696.2	37	c.3689_3688		11																																																																																			SHANK2	-	NULL	ENSG00000162105		0.624	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		43	0.00	0	-	NM_012309		70332712	70332713	-1	no_errors	ENST00000338508	ensembl	human	known	69_37n	frame_shift_ins	20	73.68	56	INS	1.000:1.000	A
SHANK2	22941	genome.wustl.edu	37	11	70332718	70332718	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr11:70332718delA	ENST00000423696.2	-	15	2579	c.2543delT	c.(2542-2544)atgfs	p.M848fs	SHANK2_ENST00000409161.1_Frame_Shift_Del_p.M631fs|SHANK2_ENST00000449833.2_Frame_Shift_Del_p.M632fs|SHANK2_ENST00000338508.4_Frame_Shift_Del_p.M1228fs			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	848					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGACTCCTTCATGGCTCGGTC	0.632																																						dbGAP											0													54.0	62.0	59.0					11																	70332718		2200	4294	6494	-	-	-	SO:0001589	frameshift_variant	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2543delT	11.37:g.70332718delA	ENSP00000394536:p.Met848fs	Somatic		WXS	Illumina GAIIx	Phase_IV	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Frame_Shift_Del	DEL	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.M1228fs	ENST00000423696.2	37	c.3683		11																																																																																			SHANK2	-	NULL	ENSG00000162105		0.632	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		42	0.00	0	A	NM_012309		70332718	70332718	-1	no_errors	ENST00000338508	ensembl	human	known	69_37n	frame_shift_del	15	76.92	50	DEL	1.000	-
SLC7A3	84889	genome.wustl.edu	37	X	70149701	70149701	+	Silent	SNP	G	G	A	rs368309633		TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chrX:70149701G>A	ENST00000374299.3	-	2	291	c.147C>T	c.(145-147)ggC>ggT	p.G49G	SLC7A3_ENST00000298085.4_Silent_p.G49G			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	49					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGACATACACGCCTGCACCCA	0.572																																						dbGAP											0													104.0	70.0	82.0					X																	70149701		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.147C>T	X.37:g.70149701G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.G49	ENST00000374299.3	37	c.147	CCDS14404.1	X																																																																																			SLC7A3	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	ENSG00000165349		0.572	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A3	HGNC	protein_coding	OTTHUMT00000057080.1	108	0.00	0	G	NM_032803		70149701	70149701	-1	no_errors	ENST00000298085	ensembl	human	known	69_37n	silent	40	27.12	16	SNP	0.540	A
RPL4	6124	genome.wustl.edu	37	15	66795596	66795596	+	Intron	SNP	G	G	C	rs547251473		TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr15:66795596G>C	ENST00000307961.6	-	3	268				SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|ZWILCH_ENST00000535141.2_5'Flank|ZWILCH_ENST00000565627.1_5'Flank|SNORD16_ENST00000362803.1_RNA|ZWILCH_ENST00000446801.2_5'Flank|ZWILCH_ENST00000307897.5_5'Flank|RPL4_ENST00000568588.1_Intron|RPL4_ENST00000564517.1_5'Flank|SNORD18A_ENST00000363753.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						CAGAACATCCGAGAAAATCAT	0.378																																						dbGAP											0													125.0	109.0	114.0					15																	66795596		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.176-94C>G	15.37:g.66795596G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K502|P39029|Q4VBR0|Q969Z9	RNA	SNP	-	NULL	ENST00000307961.6	37	NULL	CCDS10218.1	15																																																																																			SNORD18A	-	-	ENSG00000200623		0.378	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD18A	HGNC	protein_coding	OTTHUMT00000256903.2	112	0.00	0	G	NM_000968		66795596	66795596	-1	no_errors	ENST00000363753	ensembl	human	known	69_37n	rna	44	38.89	28	SNP	0.873	C
SPAG17	200162	genome.wustl.edu	37	1	118624074	118624074	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr1:118624074T>G	ENST00000336338.5	-	14	2019	c.1954A>C	c.(1954-1956)Atg>Ctg	p.M652L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	652						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCATTTTCATGACATATTGC	0.408																																						dbGAP											0													180.0	173.0	176.0					1																	118624074		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1954A>C	1.37:g.118624074T>G	ENSP00000337804:p.Met652Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.M652L	ENST00000336338.5	37	c.1954	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	T	2.950	-0.216858	0.06101	.	.	ENSG00000155761	ENST00000336338	T	0.17691	2.26	5.12	-0.922	0.10468	.	1.406000	0.04259	N	0.339983	T	0.03915	0.0110	L	0.46157	1.445	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35001	-0.9806	10	0.08599	T	0.76	.	6.9292	0.24432	0.0:0.4167:0.1708:0.4125	.	652	Q6Q759	SPG17_HUMAN	L	652	ENSP00000337804:M652L	ENSP00000337804:M652L	M	-	1	0	SPAG17	118425597	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	0.169000	0.16641	-0.101000	0.12219	0.482000	0.46254	ATG	SPAG17	-	NULL	ENSG00000155761		0.408	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	240	0.00	0	T	NM_206996		118624074	118624074	-1	no_errors	ENST00000336338	ensembl	human	known	69_37n	missense	224	12.50	32	SNP	0.000	G
TGFBI	7045	genome.wustl.edu	37	5	135396550	135396550	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr5:135396550G>A	ENST00000442011.2	+	14	1992	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	TGFBI_ENST00000305126.8_Missense_Mutation_p.E611K|TGFBI_ENST00000508076.1_5'UTR	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	611	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTCAACAAGGAGCCTGTTGC	0.413																																						dbGAP											0													50.0	50.0	50.0					5																	135396550		2027	4183	6210	-	-	-	SO:0001583	missense	0			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1831G>A	5.37:g.135396550G>A	ENSP00000416330:p.Glu611Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain	p.E611K	ENST00000442011.2	37	c.1831	CCDS47266.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.78|16.78	3.217867|3.217867	0.58560|0.58560	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126|ENST00000514554	D;D|.	0.90385|.	-2.66;-2.66|.	5.83|5.83	4.97|4.97	0.65823|0.65823	FAS1 domain (5);|.	0.101366|.	0.64402|.	D|.	0.000003|.	T|T	0.61640|0.61640	0.2363|0.2363	L|L	0.45470|0.45470	1.425|1.425	0.43114|0.43114	D|D	0.994824|0.994824	P;P|.	0.50819|.	0.896;0.939|.	P;P|.	0.49999|.	0.628;0.628|.	T|T	0.59710|0.59710	-0.7403|-0.7403	10|5	0.52906|.	T|.	0.07|.	-22.3073|-22.3073	14.8935|14.8935	0.70627|0.70627	0.0687:0.0:0.9313:0.0|0.0687:0.0:0.9313:0.0	.|.	344;611|.	B9ZVW9;Q15582|.	.;BGH3_HUMAN|.	K|E	611;344;611|328	ENSP00000416330:E611K;ENSP00000306306:E611K|.	ENSP00000306306:E611K|.	E|G	+|+	1|2	0|0	TGFBI|TGFBI	135424449|135424449	1.000000|1.000000	0.71417|0.71417	0.528000|0.528000	0.27938|0.27938	0.024000|0.024000	0.10985|0.10985	6.835000|6.835000	0.75344|0.75344	1.483000|1.483000	0.48342|0.48342	0.555000|0.555000	0.69702|0.69702	GAG|GGA	TGFBI	-	pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain	ENSG00000120708		0.413	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBI	HGNC	protein_coding	OTTHUMT00000372108.1	130	0.00	0	G			135396550	135396550	+1	no_errors	ENST00000305126	ensembl	human	known	69_37n	missense	87	12.12	12	SNP	0.997	A
TGM1	7051	genome.wustl.edu	37	14	24724646	24724646	+	Silent	SNP	G	G	A			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr14:24724646G>A	ENST00000206765.6	-	11	1692	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	TGM1_ENST00000544573.1_Silent_p.I81I	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	523					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGAGTGTGCCGATGGCCTTCT	0.552																																						dbGAP											0													144.0	114.0	124.0					14																	24724646		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1569C>T	14.37:g.24724646G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWR7|Q197M4	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.I523	ENST00000206765.6	37	c.1569	CCDS9622.1	14																																																																																			TGM1	-	NULL	ENSG00000092295		0.552	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	HGNC	protein_coding	OTTHUMT00000073160.6	86	0.00	0	G	NM_000359		24724646	24724646	-1	no_errors	ENST00000206765	ensembl	human	known	69_37n	silent	40	32.20	19	SNP	0.920	A
TIE1	7075	genome.wustl.edu	37	1	43783620	43783620	+	Silent	SNP	G	G	A			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr1:43783620G>A	ENST00000372476.3	+	17	2878	c.2799G>A	c.(2797-2799)cgG>cgA	p.R933R	TIE1_ENST00000433781.2_Silent_p.R578R|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	933	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAAAAGCCGGGTCCTAGAGA	0.532																																						dbGAP											0													170.0	180.0	177.0					1																	43783620		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2799G>A	1.37:g.43783620G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5A949|B5A950	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.R933	ENST00000372476.3	37	c.2799	CCDS482.1	1																																																																																			TIE1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000066056		0.532	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	80	0.00	0	G	NM_005424		43783620	43783620	+1	no_errors	ENST00000372476	ensembl	human	known	69_37n	silent	54	22.86	16	SNP	1.000	A
TMEM18	129787	genome.wustl.edu	37	2	676235	676236	+	Intron	INS	-	-	C			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr2:676235_676236insC	ENST00000281017.3	-	2	151				TMEM18_ENST00000355654.2_5'Flank|TMEM18_ENST00000405941.3_Intron|AC092159.2_ENST00000445418.1_RNA	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18						cell migration (GO:0016477)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		GGACCCTGCTGTACCTGGGGAC	0.594											OREG0014387	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AL137269	CCDS33141.1	2p25.3	2008-02-05			ENSG00000151353	ENSG00000151353			25257	protein-coding gene	gene with protein product		613220				12477932	Standard	NM_152834		Approved	DKFZp434C1714	uc002qwl.3	Q96B42	OTTHUMG00000151381	ENST00000281017.3:c.58-605->G	2.37:g.676235_676236insC		Somatic	590	WXS	Illumina GAIIx	Phase_IV	D6W4X9|Q8N5H2|Q9NTH3	Frame_Shift_Ins	INS	NULL	p.Q20fs	ENST00000281017.3	37	c.61_60	CCDS33141.1	2																																																																																			TMEM18	-	NULL	ENSG00000151353		0.594	TMEM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM18	HGNC	protein_coding	OTTHUMT00000322427.1	35	0.00	0	-	NM_152834		676235	676236	-1	no_errors	ENST00000432667	ensembl	human	known	69_37n	frame_shift_ins	4	42.86	3	INS	0.008:0.023	C
TMEM214	54867	genome.wustl.edu	37	2	27258528	27258528	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr2:27258528delC	ENST00000238788.9	+	4	631	c.569delC	c.(568-570)gcafs	p.A190fs	TMEM214_ENST00000404032.3_Intron	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	190					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCGAAGGCAGCAGGGTCTCTG	0.557																																						dbGAP											0													112.0	115.0	114.0					2																	27258528		1940	4133	6073	-	-	-	SO:0001589	frameshift_variant	0				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.569delC	2.37:g.27258528delC	ENSP00000238788:p.Ala190fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Frame_Shift_Del	DEL	pfam_DUF2359_TMEM214	p.A190fs	ENST00000238788.9	37	c.569	CCDS42664.1	2																																																																																			TMEM214	-	NULL	ENSG00000119777		0.557	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM214	HGNC	protein_coding	OTTHUMT00000324748.1	288	0.00	0	C	NM_017727		27258528	27258528	+1	no_errors	ENST00000238788	ensembl	human	known	69_37n	frame_shift_del	134	39.83	92	DEL	0.007	-
TMEM214	54867	genome.wustl.edu	37	2	27258530	27258531	+	In_Frame_Ins	INS	-	-	TGT			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr2:27258530_27258531insTGT	ENST00000238788.9	+	4	633_634	c.571_572insTGT	c.(571-573)ggg>gTGTgg	p.191_191G>VW	TMEM214_ENST00000404032.3_Intron	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	191					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GAAGGCAGCAGGGTCTCTGGAG	0.559																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	Exception_encountered	2.37:g.27258530_27258531insTGT	ENSP00000238788:p.Gly191delinsValTrp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	In_Frame_Ins	INS	pfam_DUF2359_TMEM214	p.G191in_frame_insVW	ENST00000238788.9	37	c.571_572	CCDS42664.1	2																																																																																			TMEM214	-	NULL	ENSG00000119777		0.559	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM214	HGNC	protein_coding	OTTHUMT00000324748.1	288	0.00	0	-	NM_017727		27258530	27258531	+1	no_errors	ENST00000238788	ensembl	human	known	69_37n	in_frame_ins	134	40.71	92	INS	0.367:0.403	TGT
TP53	7157	genome.wustl.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr17:7576855G>A	ENST00000269305.4	-	9	1180	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q331*	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	331	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; 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.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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)	CTTAGTACCTGAAGGGTGAAA	0.448		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"""	34	Substitution - Nonsense(23)|Whole gene deletion(8)|Insertion - Frameshift(2)|Unknown(1)	lung(6)|large_intestine(4)|urinary_tract(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|endometrium(2)|skin(2)|ovary(2)|stomach(1)|breast(1)|oesophagus(1)											115.0	108.0	110.0					17																	7576855		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.991C>T	17.37:g.7576855G>A	ENSP00000269305:p.Gln331*	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	Nonsense_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.Q331*	ENST00000269305.4	37	c.991	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117678	0.77323	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.95	2.88	0.33553	.	0.253251	0.40469	N	0.001098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-17.7352	9.751	0.40475	0.0:0.0:0.4869:0.5131	.	.	.	.	X	331;331;331;331;331;320;199	.	ENSP00000269305:Q331X	Q	-	1	0	TP53	7517580	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	1.858000	0.39408	0.557000	0.29117	-0.314000	0.08810	CAG	TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	ENSG00000141510		0.448	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	575	0.00	0	G	NM_000546		7576855	7576855	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	50	77.06	168	SNP	0.999	A
TXK	7294	genome.wustl.edu	37	4	48076033	48076033	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr4:48076033C>T	ENST00000264316.4	-	13	1361	c.1276G>A	c.(1276-1278)Gcc>Acc	p.A426T	TXK_ENST00000507351.1_Missense_Mutation_p.A81T	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	426	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GGGAACTTGGCTCCAAAAGAA	0.378																																						dbGAP											0													103.0	100.0	101.0					4																	48076033		2203	4300	6503	-	-	-	SO:0001583	missense	0			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1276G>A	4.37:g.48076033C>T	ENSP00000264316:p.Ala426Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14220	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.A426T	ENST00000264316.4	37	c.1276	CCDS3480.1	4	.	.	.	.	.	.	.	.	.	.	C	6.389	0.439929	0.12104	.	.	ENSG00000074966	ENST00000264316;ENST00000507351	T;T	0.62232	0.04;0.04	5.64	2.79	0.32731	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.068381	0.56097	N	0.000022	T	0.44201	0.1282	N	0.13198	0.31	0.41389	D	0.987603	B;P	0.43519	0.09;0.809	B;B	0.42555	0.079;0.391	T	0.44802	-0.9304	10	0.62326	D	0.03	.	8.3999	0.32579	0.4103:0.5194:0.0:0.0702	.	113;426	B4DTB5;P42681	.;TXK_HUMAN	T	426;81	ENSP00000264316:A426T;ENSP00000423481:A81T	ENSP00000264316:A426T	A	-	1	0	TXK	47770790	0.958000	0.32768	1.000000	0.80357	0.540000	0.34992	0.571000	0.23669	0.875000	0.35847	0.650000	0.86243	GCC	TXK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000074966		0.378	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	HGNC	protein_coding	OTTHUMT00000219869.7	118	0.00	0	C	NM_003328		48076033	48076033	-1	no_errors	ENST00000264316	ensembl	human	known	69_37n	missense	153	15.47	28	SNP	0.898	T
UBC	7316	genome.wustl.edu	37	12	125396685	125396686	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr12:125396685_125396686insG	ENST00000538617.1	-	4	808_809	c.492_493insC	c.(490-495)accatcfs	p.I165fs	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Frame_Shift_Ins_p.I545fs|UBC_ENST00000536769.1_Frame_Shift_Ins_p.I545fs|UBC_ENST00000546120.1_Frame_Shift_Ins_p.I469fs			P0CG48	UBC_HUMAN	ubiquitin C	545	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCGAGAGTGATGGTCTTACCAG	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.493dupC	12.37:g.125396687_125396687dupG	ENSP00000443053:p.Ile165fs	Somatic		WXS	Illumina GAIIx	Phase_IV	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Frame_Shift_Ins	INS	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.I544fs	ENST00000538617.1	37	c.1633_1632		12																																																																																			UBC	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	ENSG00000150991		0.525	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400179.1	63	0.00	0	-	NM_021009		125396685	125396686	-1	no_errors	ENST00000339647	ensembl	human	known	69_37n	frame_shift_ins	7	36.36	4	INS	1.000:1.000	G
UMOD	7369	genome.wustl.edu	37	16	20357504	20357504	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr16:20357504C>A	ENST00000570689.1	-	5	1272	c.1126G>T	c.(1126-1128)Gac>Tac	p.D376Y	UMOD_ENST00000396138.4_Missense_Mutation_p.D425Y|UMOD_ENST00000396134.2_Missense_Mutation_p.D409Y|UMOD_ENST00000396142.2_Missense_Mutation_p.D376Y|UMOD_ENST00000424589.1_Missense_Mutation_p.D409Y|UMOD_ENST00000302509.4_Missense_Mutation_p.D376Y			P07911	UROM_HUMAN	uromodulin	376	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GACACCCAGTCCCGGTTGTCT	0.612																																						dbGAP											0													45.0	45.0	45.0					16																	20357504		2203	4300	6503	-	-	-	SO:0001583	missense	0			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1126G>T	16.37:g.20357504C>A	ENSP00000460548:p.Asp376Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.D409Y	ENST00000570689.1	37	c.1225	CCDS10583.1	16	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674124	0.47781	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	4.85	2.64	0.31445	Zona pellucida sperm-binding protein (3);	0.369496	0.23343	N	0.049208	D	0.83640	0.5298	L	0.41710	1.295	0.33953	D	0.644638	D;D	0.76494	0.999;0.995	D;D	0.72982	0.979;0.961	D	0.84772	0.0768	10	0.72032	D	0.01	-34.8475	4.771	0.13155	0.0:0.6762:0.0:0.3238	.	409;376	E9PEA4;P07911	.;UROM_HUMAN	Y	376;409;409;376;354;376	ENSP00000379438:D409Y;ENSP00000416346:D409Y;ENSP00000306279:D376Y;ENSP00000379446:D376Y	ENSP00000306279:D376Y	D	-	1	0	UMOD	20265005	0.955000	0.32602	0.907000	0.35723	0.597000	0.36814	1.607000	0.36836	1.011000	0.39340	0.491000	0.48974	GAC	UMOD	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	ENSG00000169344		0.612	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	69	0.00	0	C			20357504	20357504	-1	no_errors	ENST00000424589	ensembl	human	known	69_37n	missense	36	12.20	5	SNP	0.826	A
UNC13B	10497	genome.wustl.edu	37	9	35231138	35231138	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr9:35231138C>T	ENST00000378495.3	+	3	296	c.74C>T	c.(73-75)aCc>aTc	p.T25I	UNC13B_ENST00000396787.1_Missense_Mutation_p.T25I|UNC13B_ENST00000378496.4_Missense_Mutation_p.T25I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	25	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ACATATGTGACCCTGAAAGTA	0.388																																						dbGAP											0													108.0	95.0	100.0					9																	35231138		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.74C>T	9.37:g.35231138C>T	ENSP00000367756:p.Thr25Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.T25I	ENST00000378495.3	37	c.74	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779416	0.90195	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	T;T;T	0.70749	-0.51;-0.51;-0.51	4.89	4.89	0.63831	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.309239	0.28871	N	0.013861	D	0.83843	0.5342	M	0.74881	2.28	0.51767	D	0.999935	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.91635	0.999;0.989;0.914	D	0.85824	0.1387	10	0.87932	D	0	-6.5617	16.8467	0.85982	0.0:1.0:0.0:0.0	.	25;25;25	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	I	25	ENSP00000380006:T25I;ENSP00000367756:T25I;ENSP00000367757:T25I	ENSP00000367756:T25I	T	+	2	0	UNC13B	35221138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.855000	0.69510	2.562000	0.86427	0.644000	0.83932	ACC	UNC13B	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000198722		0.388	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	249	0.00	0	C	NM_006377		35231138	35231138	+1	no_errors	ENST00000396787	ensembl	human	known	69_37n	missense	170	43.89	133	SNP	1.000	T
UPF3A	65110	genome.wustl.edu	37	13	115048384	115048385	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr13:115048384_115048385insC	ENST00000375299.3	+	3	443_444	c.387_388insC	c.(388-390)cgtfs	p.R130fs	UPF3A_ENST00000351487.5_Frame_Shift_Ins_p.R130fs	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	130	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		TTTTTAGAGATCGTTTTGATGG	0.307																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.388dupC	13.37:g.115048385_115048385dupC	ENSP00000364448:p.Arg130fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Frame_Shift_Ins	INS	pfam_Nonsense_mediated_decay_UPF3	p.R129fs	ENST00000375299.3	37	c.387_388	CCDS9543.1	13																																																																																			UPF3A	-	pfam_Nonsense_mediated_decay_UPF3	ENSG00000169062		0.307	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPF3A	HGNC	protein_coding	OTTHUMT00000045968.2	190	0.00	0	-			115048384	115048385	+1	no_errors	ENST00000375299	ensembl	human	known	69_37n	frame_shift_ins	111	33.13	55	INS	0.983:1.000	C
USP53	54532	genome.wustl.edu	37	4	120181041	120181041	+	Silent	SNP	A	A	G			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr4:120181041A>G	ENST00000274030.6	+	10	1815	c.636A>G	c.(634-636)ctA>ctG	p.L212L	USP53_ENST00000450251.1_Silent_p.L212L	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						CAGAATTGCTACAAGCAGCAA	0.348																																						dbGAP											0													132.0	117.0	122.0					4																	120181041		1831	4094	5925	-	-	-	SO:0001819	synonymous_variant	0			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.636A>G	4.37:g.120181041A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.L212	ENST00000274030.6	37	c.636	CCDS43265.1	4																																																																																			USP53	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000145390		0.348	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP53	HGNC	protein_coding	OTTHUMT00000364564.2	178	0.00	0	A	XM_052597		120181041	120181041	+1	no_errors	ENST00000274030	ensembl	human	known	69_37n	silent	159	42.81	119	SNP	0.897	G
XCR1	2829	genome.wustl.edu	37	3	46063416	46063416	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr3:46063416C>G	ENST00000309285.3	-	2	380	c.24G>C	c.(22-24)gaG>gaC	p.E8D	XCR1_ENST00000542109.1_Missense_Mutation_p.E8D	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	8					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGGTGGTGCTCTCTGGGTTGC	0.527																																						dbGAP											0													59.0	64.0	62.0					3																	46063416		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.24G>C	3.37:g.46063416C>G	ENSP00000310405:p.Glu8Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_lymphotactin_XCR1,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt	p.E8D	ENST00000309285.3	37	c.24	CCDS2736.1	3	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317905	0.23994	.	.	ENSG00000173578	ENST00000309285;ENST00000542109;ENST00000395946	T;T	0.67865	-0.29;-0.29	3.92	0.747	0.18371	.	2.443350	0.01375	N	0.012709	T	0.43567	0.1253	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.32877	-0.9890	10	0.12766	T	0.61	.	5.0596	0.14550	0.3847:0.3959:0.2194:0.0	.	8	P46094	XCR1_HUMAN	D	8	ENSP00000310405:E8D;ENSP00000438119:E8D	ENSP00000310405:E8D	E	-	3	2	XCR1	46038420	0.000000	0.05858	0.034000	0.17996	0.009000	0.06853	-0.711000	0.05019	0.601000	0.29879	0.650000	0.86243	GAG	XCR1	-	NULL	ENSG00000173578		0.527	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCR1	HGNC	protein_coding	OTTHUMT00000257322.2	191	0.00	0	C			46063416	46063416	-1	no_errors	ENST00000309285	ensembl	human	known	69_37n	missense	10	78.43	40	SNP	0.000	G
YTHDF3	253943	genome.wustl.edu	37	8	64087954	64087954	+	Silent	SNP	C	C	T			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr8:64087954C>T	ENST00000517371.1	+	3	338	c.114C>T	c.(112-114)taC>taT	p.Y38Y	YTHDF3_ENST00000539294.1_Silent_p.Y38Y|YTHDF3_ENST00000542911.2_5'UTR|YTHDF3_ENST00000521674.1_3'UTR			Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	38							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			TTGAGCCATACTTAAGTAGCC	0.279																																						dbGAP											0													85.0	80.0	81.0					8																	64087954		1842	4080	5922	-	-	-	SO:0001819	synonymous_variant	0			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000517371.1:c.114C>T	8.37:g.64087954C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXL4|Q63Z37|Q659A3	RNA	SNP	-	NULL	ENST00000517371.1	37	NULL		8																																																																																			YTHDF3	-	-	ENSG00000185728		0.279	YTHDF3-010	PUTATIVE	basic	protein_coding	YTHDF3	HGNC	protein_coding	OTTHUMT00000378466.4	154	0.00	0	C	NM_152758		64087954	64087954	+1	no_errors	ENST00000339066	ensembl	human	known	69_37n	rna	218	16.15	42	SNP	1.000	T
ZCCHC12	170261	genome.wustl.edu	37	X	117959686	117959686	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chrX:117959686delT	ENST00000310164.2	+	4	986	c.479delT	c.(478-480)attfs	p.I160fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	160					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						cagaacgctattcaggcaggc	0.498																																						dbGAP											0													106.0	106.0	106.0					X																	117959686		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.479delT	X.37:g.117959686delT	ENSP00000308921:p.Ile160fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV48|Q6PID5|Q8N1C1	Frame_Shift_Del	DEL	superfamily_Znf_CCHC	p.Q161fs	ENST00000310164.2	37	c.479	CCDS14574.1	X																																																																																			ZCCHC12	-	NULL	ENSG00000174460		0.498	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC12	HGNC	protein_coding	OTTHUMT00000058014.1	156	0.00	0	T	NM_173798		117959686	117959686	+1	no_errors	ENST00000310164	ensembl	human	known	69_37n	frame_shift_del	118	53.36	135	DEL	0.986	-
ZSCAN21	7589	genome.wustl.edu	37	7	99662245	99662245	+	3'UTR	SNP	C	C	T			TCGA-A2-A0D1-01A-11W-A050-09	TCGA-A2-A0D1-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a762809c-15c9-485e-ad7a-ef28427750e9	12fd8c6e-6a2e-4cf5-8a50-a2872d4cc7f9	g.chr7:99662245C>T	ENST00000292450.4	+	0	1591				ZSCAN21_ENST00000543588.1_Nonsense_Mutation_p.Q442*|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Nonsense_Mutation_p.Q442*	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21						positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCGTAACTTTCAAGCGCTCCT	0.448																																						dbGAP											0													58.0	56.0	57.0					7																	99662245		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.*5C>T	7.37:g.99662245C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2A6|D6W5T9|Q9H0B5	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	p.Q442*	ENST00000292450.4	37	c.1324	CCDS5681.1	7	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142226	0.57044	.	.	ENSG00000166529	ENST00000543588;ENST00000456748	.	.	.	4.05	0.178	0.15058	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.7114	0.12873	0.0:0.4551:0.3465:0.1984	.	.	.	.	X	442	.	ENSP00000390960:Q442X	Q	+	1	0	ZSCAN21	99500181	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.017000	0.12590	0.023000	0.15187	-0.304000	0.09214	CAA	ZSCAN21	-	NULL	ENSG00000166529		0.448	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN21	HGNC	protein_coding	OTTHUMT00000336166.1	185	0.00	0	C	NM_145914		99662245	99662245	+1	no_errors	ENST00000543588	ensembl	human	known	69_37n	nonsense	148	16.38	29	SNP	0.000	T
