#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_ORegAnno_bin	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
ACAP2	23527	genome.wustl.edu	37	3	195102673	195102673	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr3:195102673G>A	ENST00000326793.6	-	3	420	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	64	BAR.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GCCAGGTCTCGAATCCCATTC	0.308																																						dbGAP											0													83.0	86.0	85.0					3																	195102673		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.190C>T	3.37:g.195102673G>A	ENSP00000324287:p.Arg64*		A8K2V4|Q8N5Z8|Q9UQR3	Nonsense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.R64*	ENST00000326793.6	37	c.190	CCDS33924.1	3	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637971	0.87760	.	.	ENSG00000114331	ENST00000326793;ENST00000439666	.	.	.	5.39	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	13.2485	0.60036	0.0:0.0:0.8283:0.1717	.	.	.	.	X	64;20	.	ENSP00000324287:R64X	R	-	1	2	ACAP2	196583962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.971000	0.49248	1.177000	0.42855	0.563000	0.77884	CGA	ACAP2	-	NULL	ENSG00000114331		0.308	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP2	HGNC	protein_coding	OTTHUMT00000342126.2	123	0.00	0	G	NM_012287		195102673	195102673	-1	no_errors	ENST00000326793	ensembl	human	known	69_37n	nonsense	176	19.63	43	SNP	1.000	A
ACO2	50	genome.wustl.edu	37	22	41921257	41921257	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr22:41921257G>A	ENST00000216254.4	+	14	1688	c.1666G>A	c.(1666-1668)Gtg>Atg	p.V556M	ACO2_ENST00000396512.3_Missense_Mutation_p.V581M	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	556					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CGGGCAGCATGTGGACGTGAG	0.627																																						dbGAP											0													69.0	69.0	69.0					22																	41921257		2203	4300	6503	-	-	-	SO:0001583	missense	0			AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.1666G>A	22.37:g.41921257G>A	ENSP00000216254:p.Val556Met		O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like	p.V556M	ENST00000216254.4	37	c.1666	CCDS14017.1	22	.	.	.	.	.	.	.	.	.	.	G	18.79	3.697925	0.68386	.	.	ENSG00000100412	ENST00000541439;ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.54071	0.6;0.59	5.87	4.86	0.63082	Aconitase/3-isopropylmalate dehydratase, swivel (1);	0.000000	0.85682	D	0.000000	T	0.81250	0.4783	H	0.97390	3.995	0.80722	D	1	D;D	0.71674	0.998;0.992	D;P	0.65684	0.937;0.894	D	0.88518	0.3094	10	0.87932	D	0	.	15.4071	0.74887	0.0666:0.0:0.9334:0.0	.	581;556	A2A274;Q99798	.;ACON_HUMAN	M	277;537;556;581	ENSP00000216254:V556M;ENSP00000379769:V581M	ENSP00000216254:V556M	V	+	1	0	ACO2	40251203	1.000000	0.71417	0.900000	0.35374	0.008000	0.06430	9.383000	0.97214	1.636000	0.50526	0.655000	0.94253	GTG	ACO2	-	superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase_mito-like	ENSG00000100412		0.627	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO2	HGNC	protein_coding	OTTHUMT00000259151.1	40	0.00	0	G	NM_001098		41921257	41921257	+1	no_errors	ENST00000216254	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	1.000	A
ACPP	55	genome.wustl.edu	37	3	132068766	132068766	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr3:132068766G>T	ENST00000336375.5	+	8	874	c.784G>T	c.(784-786)Gtc>Ttc	p.V262F	ACPP_ENST00000351273.7_Missense_Mutation_p.V262F|ACPP_ENST00000475741.1_Missense_Mutation_p.V229F	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	262					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TCTTTAAGGTGTCCTGGTCAA	0.368																																						dbGAP											0													120.0	107.0	111.0					3																	132068766		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.784G>T	3.37:g.132068766G>T	ENSP00000337471:p.Val262Phe		D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.V262F	ENST00000336375.5	37	c.784	CCDS3073.1	3	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096440	0.76870	.	.	ENSG00000014257	ENST00000336375;ENST00000475741;ENST00000351273	T;T;T	0.18174	2.23;2.23;2.23	5.71	5.71	0.89125	.	0.095225	0.45867	D	0.000321	T	0.35158	0.0922	L	0.46670	1.46	0.51482	D	0.999923	D;D;D	0.76494	0.999;0.999;0.993	D;D;D	0.71656	0.974;0.967;0.936	T	0.01657	-1.1302	10	0.72032	D	0.01	.	15.3594	0.74460	0.0:0.0:1.0:0.0	.	262;262;229	P15309;P15309-2;Q5FBY0	PPAP_HUMAN;.;.	F	262;229;262	ENSP00000337471:V262F;ENSP00000417744:V229F;ENSP00000323036:V262F	ENSP00000337471:V262F	V	+	1	0	ACPP	133551456	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.582000	0.53921	2.700000	0.92200	0.557000	0.71058	GTC	ACPP	-	pfam_His_Pase_superF_clade-2	ENSG00000014257		0.368	ACPP-001	KNOWN	basic|CCDS	protein_coding	ACPP	HGNC	protein_coding	OTTHUMT00000356699.2	85	0.00	0	G	NM_001099		132068766	132068766	+1	no_errors	ENST00000351273	ensembl	human	known	69_37n	missense	118	14.49	20	SNP	1.000	T
ACSL6	23305	genome.wustl.edu	37	5	131325171	131325171	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr5:131325171C>T	ENST00000379240.1	-	5	559	c.406G>A	c.(406-408)Gga>Aga	p.G136R	ACSL6_ENST00000379255.1_Missense_Mutation_p.G101R|ACSL6_ENST00000296869.4_Missense_Mutation_p.G161R|ACSL6_ENST00000379249.3_Missense_Mutation_p.G136R|ACSL6_ENST00000379264.2_Missense_Mutation_p.G161R|ACSL6_ENST00000543479.1_Missense_Mutation_p.G136R|ACSL6_ENST00000379272.2_Missense_Mutation_p.G136R|ACSL6_ENST00000379246.1_Missense_Mutation_p.G147R|ACSL6_ENST00000379244.1_Missense_Mutation_p.G136R|ACSL6_ENST00000431707.1_Missense_Mutation_p.G101R|ACSL6_ENST00000357096.1_Missense_Mutation_p.G101R|ACSL6_ENST00000544770.1_Missense_Mutation_p.G45R			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	136					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGAGAAGTCCGGACCCCAGA	0.502																																						dbGAP											0													110.0	114.0	113.0					5																	131325171		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.406G>A	5.37:g.131325171C>T	ENSP00000368542:p.Gly136Arg		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G161R	ENST00000379240.1	37	c.481		5	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737275	0.69304	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099;ENST00000430403;ENST00000419502;ENST00000416557	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;2.79;2.79	5.28	5.28	0.74379	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.80031	0.4549	H	0.98866	4.355	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D	0.77004	0.959;0.986;0.989;0.976;0.986;0.986;0.986	D	0.88677	0.3199	10	0.87932	D	0	.	18.916	0.92506	0.0:1.0:0.0:0.0	.	136;136;126;136;101;161;161	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	R	136;161;136;101;101;161;147;136;45;136;101;136;101;136;136;136	ENSP00000368551:G136R;ENSP00000368566:G161R;ENSP00000368574:G136R;ENSP00000349608:G101R;ENSP00000368557:G101R;ENSP00000296869:G161R;ENSP00000368548:G147R;ENSP00000368546:G136R;ENSP00000445154:G45R;ENSP00000368542:G136R;ENSP00000413329:G101R;ENSP00000442124:G136R;ENSP00000397507:G101R;ENSP00000398423:G136R;ENSP00000388424:G136R;ENSP00000398381:G136R	ENSP00000296869:G161R	G	-	1	0	ACSL6	131353070	1.000000	0.71417	0.939000	0.37840	0.016000	0.09150	7.734000	0.84928	2.482000	0.83794	0.462000	0.41574	GGA	ACSL6	-	pfam_AMP-dep_Synth/Lig	ENSG00000164398		0.502	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	ACSL6	HGNC	protein_coding	OTTHUMT00000132622.1	138	0.00	0	C	NM_015256		131325171	131325171	-1	no_errors	ENST00000296869	ensembl	human	known	69_37n	missense	127	13.01	19	SNP	1.000	T
BAZ2A	11176	genome.wustl.edu	37	12	56998028	56998028	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr12:56998028delT	ENST00000551812.1	-	16	3210	c.3017delA	c.(3016-3018)aagfs	p.K1006fs	BAZ2A_ENST00000379441.3_Frame_Shift_Del_p.K976fs|BAZ2A_ENST00000549884.1_Frame_Shift_Del_p.K1004fs|BAZ2A_ENST00000179765.5_Frame_Shift_Del_p.K974fs|BAZ2A_ENST00000553222.1_5'Flank	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1006					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AACAATCCACTTGTTTTTCCT	0.517																																						dbGAP											0													55.0	52.0	53.0					12																	56998028		1880	4116	5996	-	-	-	SO:0001589	frameshift_variant	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3017delA	12.37:g.56998028delT	ENSP00000446880:p.Lys1006fs		B3KN66|O00536|O15030|Q68DI8|Q96H26	Frame_Shift_Del	DEL	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.K1006fs	ENST00000551812.1	37	c.3017	CCDS44924.1	12																																																																																			BAZ2A	-	NULL	ENSG00000076108		0.517	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	20	0.00	0	T	NM_013449		56998028	56998028	-1	no_errors	ENST00000551812	ensembl	human	known	69_37n	frame_shift_del	30	11.43	4	DEL	1.000	-
BRIX1	55299	genome.wustl.edu	37	5	34924961	34924961	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr5:34924961G>A	ENST00000336767.5	+	9	1036	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	225	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						GATCATAGAAGAAGATGCTGC	0.333																																						dbGAP											0													96.0	97.0	96.0					5																	34924961		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"""brix domain containing 2"""	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.673G>A	5.37:g.34924961G>A	ENSP00000338862:p.Glu225Lys		A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	p.E225K	ENST00000336767.5	37	c.673	CCDS34143.1	5	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777557	0.90195	.	.	ENSG00000113460	ENST00000336767	T	0.21191	2.02	5.6	5.6	0.85130	Brix domain (3);Anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	L	0.35644	1.08	0.80722	D	1	P	0.38677	0.642	P	0.51550	0.673	T	0.00934	-1.1509	10	0.30854	T	0.27	-29.7213	19.5989	0.95551	0.0:0.0:1.0:0.0	.	225	Q8TDN6	BRX1_HUMAN	K	225	ENSP00000338862:E225K	ENSP00000338862:E225K	E	+	1	0	BRIX1	34960718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.406000	0.80017	2.634000	0.89283	0.655000	0.94253	GAA	BRIX1	-	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	ENSG00000113460		0.333	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIX1	HGNC	protein_coding	OTTHUMT00000366826.2	68	0.00	0	G	NM_018321		34924961	34924961	+1	no_errors	ENST00000336767	ensembl	human	known	69_37n	missense	43	15.69	8	SNP	1.000	A
BTBD1	53339	genome.wustl.edu	37	15	83710634	83710634	+	Silent	SNP	T	T	G			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr15:83710634T>G	ENST00000261721.4	-	4	910	c.708A>C	c.(706-708)cgA>cgC	p.R236R	BTBD1_ENST00000379403.2_Silent_p.R236R|RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000560015.1_5'Flank|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	236					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GTCGACTTTCTCGAATACTGA	0.378																																						dbGAP											0													118.0	111.0	113.0					15																	83710634		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.708A>C	15.37:g.83710634T>G			A6NMI8|Q9BX71|Q9NWN4	Silent	SNP	pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.R236	ENST00000261721.4	37	c.708	CCDS10322.1	15																																																																																			BTBD1	-	pfam_BACK,smart_BACK	ENSG00000064726		0.378	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD1	HGNC	protein_coding	OTTHUMT00000304008.1	130	0.00	0	T			83710634	83710634	-1	no_errors	ENST00000261721	ensembl	human	known	69_37n	silent	139	19.65	34	SNP	1.000	G
BTRC	8945	genome.wustl.edu	37	10	103295203	103295203	+	Silent	SNP	G	G	C			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr10:103295203G>C	ENST00000370187.3	+	11	1558	c.1440G>C	c.(1438-1440)gtG>gtC	p.V480V	BTRC_ENST00000408038.2_Silent_p.V444V|BTRC_ENST00000393441.4_Silent_p.V439V|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	480					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		GGCTGGTAGTGAGTGGCTCAT	0.418																																						dbGAP											0													111.0	99.0	103.0					10																	103295203		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1440G>C	10.37:g.103295203G>C			B5MD49|Q5W141|Q5W142|Q9Y213	Silent	SNP	pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V480	ENST00000370187.3	37	c.1440	CCDS7512.1	10																																																																																			BTRC	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000166167		0.418	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTRC	HGNC	protein_coding	OTTHUMT00000049936.1	78	0.00	0	G	NM_033637		103295203	103295203	+1	no_errors	ENST00000370187	ensembl	human	known	69_37n	silent	68	15.00	12	SNP	1.000	C
C12orf50	160419	genome.wustl.edu	37	12	88380150	88380150	+	Silent	SNP	C	C	T			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr12:88380150C>T	ENST00000298699.2	-	10	1041	c.861G>A	c.(859-861)gtG>gtA	p.V287V	C12orf50_ENST00000550553.1_Silent_p.V248V	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	287										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TTCTTTTCTTCACACCTTTAA	0.308																																						dbGAP											0													112.0	115.0	114.0					12																	88380150		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.861G>A	12.37:g.88380150C>T			Q6P674	Silent	SNP	NULL	p.V287	ENST00000298699.2	37	c.861	CCDS9031.1	12																																																																																			C12orf50	-	NULL	ENSG00000165805		0.308	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf50	HGNC	protein_coding	OTTHUMT00000406328.1	195	0.00	0	C	NM_152589		88380150	88380150	-1	no_errors	ENST00000298699	ensembl	human	known	69_37n	silent	104	32.03	49	SNP	1.000	T
MROH8	140699	genome.wustl.edu	37	20	35748218	35748218	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr20:35748218C>G	ENST00000400441.3	-	18	2252	c.2253G>C	c.(2251-2253)aaG>aaC	p.K751N	MROH8_ENST00000441008.2_Missense_Mutation_p.K737N|MROH8_ENST00000217333.8_Missense_Mutation_p.K580N			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	320																	TGGGCAGTCTCTTGGCCACTG	0.483																																						dbGAP											0													99.0	101.0	100.0					20																	35748218		1986	4179	6165	-	-	-	SO:0001583	missense	0			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2253G>C	20.37:g.35748218C>G	ENSP00000383291:p.Lys751Asn		Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.K751N	ENST00000400441.3	37	c.2253		20	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	9.436|9.436|9.436	1.086911|1.086911|1.086911	0.20390|0.20390|0.20390	.|.|.	.|.|.	ENSG00000101353|ENSG00000101353|ENSG00000101353	ENST00000417458|ENST00000441008;ENST00000400441;ENST00000217333|ENST00000343811	.|T;T;T|.	.|0.66638|.	.|-0.22;4.42;-0.13|.	5.35|5.35|5.35	3.33|3.33|3.33	0.38152|0.38152|0.38152	.|.|.	.|0.479063|.	.|0.21749|.	.|N|.	.|0.069710|.	T|T|T	0.20088|0.20088|0.20088	0.0483|0.0483|0.0483	N|N|N	0.11927|0.11927|0.11927	0.2|0.2|0.2	0.25458|0.25458|0.25458	N|N|N	0.987945|0.987945|0.987945	.|P;P|.	.|0.38922|.	.|0.651;0.557|.	.|B;B|.	.|0.35971|.	.|0.212;0.215|.	T|T|T	0.23013|0.23013|0.23013	-1.0200|-1.0200|-1.0200	5|10|5	.|0.17832|.	.|T|.	.|0.49|.	-5.1044|-5.1044|-5.1044	7.5238|7.5238|7.5238	0.27643|0.27643|0.27643	0.0:0.7882:0.0:0.2118|0.0:0.7882:0.0:0.2118|0.0:0.7882:0.0:0.2118	.|.|.	.|751;585|.	.|E7ETR9;Q9H579-2|.	.|.;.|.	Q|N|T	379|737;751;580|778	.|ENSP00000392144:K737N;ENSP00000383291:K751N;ENSP00000217333:K580N|.	.|ENSP00000217333:K580N|.	E|K|R	-|-|-	1|3|2	0|2|0	C20orf132|C20orf132|C20orf132	35181632|35181632|35181632	0.923000|0.923000|0.923000	0.31300|0.31300|0.31300	0.868000|0.868000|0.868000	0.34077|0.34077|0.34077	0.010000|0.010000|0.010000	0.07245|0.07245|0.07245	0.232000|0.232000|0.232000	0.17891|0.17891|0.17891	0.568000|0.568000|0.568000	0.29311|0.29311|0.29311	-0.355000|-0.355000|-0.355000	0.07637|0.07637|0.07637	GAG|AAG|AGA	C20orf132	-	superfamily_ARM-type_fold	ENSG00000101353		0.483	MROH8-202	KNOWN	basic|appris_principal	protein_coding	C20orf132	HGNC	protein_coding		208	0.00	0	C	NM_152503		35748218	35748218	-1	no_errors	ENST00000400441	ensembl	human	known	69_37n	missense	173	17.22	36	SNP	0.943	G
C5orf42	65250	genome.wustl.edu	37	5	37179528	37179528	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr5:37179528C>A	ENST00000508244.1	-	28	5848	c.5755G>T	c.(5755-5757)Gtt>Ttt	p.V1919F	C5orf42_ENST00000425232.2_Missense_Mutation_p.V1919F|C5orf42_ENST00000274258.7_Missense_Mutation_p.V799F			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1919						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AAACCTCCAACAGATTCTTCA	0.353																																						dbGAP											0													80.0	82.0	82.0					5																	37179528		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5755G>T	5.37:g.37179528C>A	ENSP00000421690:p.Val1919Phe		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.V1919F	ENST00000508244.1	37	c.5755	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508648	0.44660	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.28895	1.61;1.61;1.59;1.59	4.79	-0.372	0.12520	.	2.211840	0.02512	N	0.091593	T	0.21631	0.0521	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.25082	-1.0142	10	0.56958	D	0.05	.	1.8551	0.03177	0.1517:0.4743:0.1487:0.2253	.	1919;799	E9PH94;Q9H799	.;CE042_HUMAN	F	1919;1919;799;967;799	ENSP00000421690:V1919F;ENSP00000389014:V1919F;ENSP00000274258:V799F;ENSP00000424223:V967F	ENSP00000274258:V799F	V	-	1	0	C5orf42	37215285	0.000000	0.05858	0.000000	0.03702	0.512000	0.34134	-0.848000	0.04326	0.070000	0.16634	-0.150000	0.13652	GTT	C5orf42	-	NULL	ENSG00000197603		0.353	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	133	0.00	0	C	NM_023073		37179528	37179528	-1	no_errors	ENST00000425232	ensembl	human	known	69_37n	missense	117	19.31	28	SNP	0.000	A
CEP95	90799	genome.wustl.edu	37	17	62517574	62517574	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr17:62517574C>G	ENST00000556440.2	+	7	1154	c.644C>G	c.(643-645)tCt>tGt	p.S215C	CEP95_ENST00000553412.1_Missense_Mutation_p.S51C	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	215						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						TCACCAAGTTCTAAATCACAT	0.343																																						dbGAP											0													127.0	116.0	119.0					17																	62517574		1854	4104	5958	-	-	-	SO:0001583	missense	0			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.644C>G	17.37:g.62517574C>G	ENSP00000450461:p.Ser215Cys		B4DMD2|Q96M81	Missense_Mutation	SNP	superfamily_CH-domain	p.S215C	ENST00000556440.2	37	c.644	CCDS45763.1	17	.	.	.	.	.	.	.	.	.	.	C	6.307	0.424732	0.11987	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.33438	1.42;1.41	4.05	-2.3	0.06785	.	1.722310	0.02590	N	0.099902	T	0.21631	0.0521	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.11641	-1.0579	10	0.40728	T	0.16	0.5406	1.6536	0.02777	0.1386:0.396:0.1366:0.3288	.	215	Q96GE4	CEP95_HUMAN	C	150;215;51	ENSP00000450461:S215C;ENSP00000450906:S51C	ENSP00000438458:S150C	S	+	2	0	CEP95	59948036	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.560000	0.05964	-0.680000	0.05211	-0.813000	0.03139	TCT	CEP95	-	NULL	ENSG00000258890		0.343	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP95	HGNC	protein_coding	OTTHUMT00000445100.2	47	0.00	0	C	NM_138363		62517574	62517574	+1	no_errors	ENST00000556440	ensembl	human	known	69_37n	missense	92	10.68	11	SNP	0.000	G
DOPEY2	9980	genome.wustl.edu	37	21	37605126	37605126	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr21:37605126C>G	ENST00000399151.3	+	15	2460	c.2375C>G	c.(2374-2376)tCt>tGt	p.S792C		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	792					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGTTTTCCATCTTGGCTGAAG	0.517																																						dbGAP											0													148.0	133.0	138.0					21																	37605126		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2375C>G	21.37:g.37605126C>G	ENSP00000382104:p.Ser792Cys		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.S792C	ENST00000399151.3	37	c.2375	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938326	0.52972	.	.	ENSG00000142197	ENST00000399151	T	0.66815	-0.23	5.84	1.52	0.23074	.	1.030380	0.07652	N	0.932098	T	0.58793	0.2147	L	0.40543	1.245	0.09310	N	1	P;P	0.44380	0.834;0.744	B;B	0.43251	0.413;0.235	T	0.49331	-0.8951	10	0.52906	T	0.07	.	6.6264	0.22833	0.0:0.3646:0.0:0.6354	.	792;792	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	C	792	ENSP00000382104:S792C	ENSP00000382104:S792C	S	+	2	0	DOPEY2	36526996	0.000000	0.05858	0.000000	0.03702	0.891000	0.51852	1.036000	0.30228	0.385000	0.24970	0.650000	0.86243	TCT	DOPEY2	-	NULL	ENSG00000142197		0.517	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	53	0.00	0	C	NM_005128		37605126	37605126	+1	no_errors	ENST00000399151	ensembl	human	known	69_37n	missense	182	11.65	24	SNP	0.000	G
DOPEY2	9980	genome.wustl.edu	37	21	37605200	37605200	+	Missense_Mutation	SNP	C	C	G	rs368114122		TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr21:37605200C>G	ENST00000399151.3	+	15	2534	c.2449C>G	c.(2449-2451)Ctg>Gtg	p.L817V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	817					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CATTTCCACTCTGCTGGAAGT	0.488																																						dbGAP											0													135.0	122.0	127.0					21																	37605200		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2449C>G	21.37:g.37605200C>G	ENSP00000382104:p.Leu817Val		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.L817V	ENST00000399151.3	37	c.2449	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760959	0.31137	.	.	ENSG00000142197	ENST00000399151	T	0.73575	-0.76	5.84	4.02	0.46733	.	0.072983	0.56097	D	0.000031	T	0.77572	0.4150	L	0.41906	1.305	0.41623	D	0.988971	D;D	0.67145	0.996;0.994	D;P	0.64687	0.928;0.849	T	0.73190	-0.4061	10	0.23891	T	0.37	.	12.9127	0.58189	0.0:0.8671:0.0:0.1329	.	817;817	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	V	817	ENSP00000382104:L817V	ENSP00000382104:L817V	L	+	1	2	DOPEY2	36527070	0.899000	0.30636	0.695000	0.30226	0.948000	0.59901	1.822000	0.39052	0.788000	0.33755	-0.145000	0.13849	CTG	DOPEY2	-	NULL	ENSG00000142197		0.488	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	66	0.00	0	C	NM_005128		37605200	37605200	+1	no_errors	ENST00000399151	ensembl	human	known	69_37n	missense	193	13.06	29	SNP	0.763	G
ESYT1	23344	genome.wustl.edu	37	12	56527640	56527640	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr12:56527640C>T	ENST00000394048.5	+	13	1720	c.1456C>T	c.(1456-1458)Cgg>Tgg	p.R486W	ESYT1_ENST00000541590.1_Missense_Mutation_p.R486W|ESYT1_ENST00000267113.4_Missense_Mutation_p.R486W	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	486	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTACCTGGATCGGGCCCAGGA	0.567																																						dbGAP											0													104.0	100.0	101.0					12																	56527640		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1456C>T	12.37:g.56527640C>T	ENSP00000377612:p.Arg486Trp		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting	p.R486W	ENST00000394048.5	37	c.1456	CCDS8904.1	12	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417835	0.62622	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.71103	-0.54;-0.54;-0.54	5.39	3.39	0.38822	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.059518	0.64402	D	0.000002	D	0.82467	0.5043	M	0.74467	2.265	0.39186	D	0.962867	D;D	0.89917	1.0;1.0	D;D	0.87578	0.99;0.998	D	0.85998	0.1493	10	0.87932	D	0	-20.476	13.5224	0.61576	0.3506:0.6494:0.0:0.0	.	486;486	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	W	486;440;486;486	ENSP00000377612:R486W;ENSP00000267113:R486W;ENSP00000445952:R486W	ENSP00000267113:R486W	R	+	1	2	ESYT1	54813907	0.108000	0.22018	0.973000	0.42090	0.975000	0.68041	0.416000	0.21198	1.346000	0.45694	0.563000	0.77884	CGG	ESYT1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000139641		0.567	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	HGNC	protein_coding	OTTHUMT00000407906.1	108	0.00	0	C	NM_015292		56527640	56527640	+1	no_errors	ENST00000267113	ensembl	human	known	69_37n	missense	127	11.19	16	SNP	0.451	T
EXTL1	2134	genome.wustl.edu	37	1	26361666	26361667	+	Frame_Shift_Ins	INS	-	-	C	rs377471650		TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr1:26361666_26361667insC	ENST00000374280.3	+	11	2726_2727	c.1859_1860insC	c.(1858-1863)ggcccgfs	p.GP620fs		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	620					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCCTGGGGGCCCGGGGCCCA	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1862dupC	1.37:g.26361669_26361669dupC	ENSP00000363398:p.Gly620fs		Q6GSC1	Frame_Shift_Ins	INS	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.P623fs	ENST00000374280.3	37	c.1859_1860	CCDS271.1	1																																																																																			EXTL1	-	pfam_HexNAc_Trfase_a	ENSG00000158008		0.629	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL1	HGNC	protein_coding	OTTHUMT00000019749.1	19	0.00	0	-	NM_004455		26361666	26361667	+1	no_errors	ENST00000374280	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.000:0.000	C
FAM187B	148109	genome.wustl.edu	37	19	35715792	35715792	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr19:35715792G>A	ENST00000324675.3	-	2	1094	c.1046C>T	c.(1045-1047)gCg>gTg	p.A349V		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	349						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CTTGAGCAGCGCCCCCAGCAG	0.687																																						dbGAP											0													29.0	30.0	30.0					19																	35715792		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.1046C>T	19.37:g.35715792G>A	ENSP00000323355:p.Ala349Val		Q8N7G6	Missense_Mutation	SNP	NULL	p.A349V	ENST00000324675.3	37	c.1046	CCDS12448.1	19	.	.	.	.	.	.	.	.	.	.	G	8.482	0.859965	0.17178	.	.	ENSG00000177558	ENST00000324675	T	0.20463	2.07	3.61	-2.24	0.06909	.	3.741080	0.00987	N	0.003464	T	0.09730	0.0239	N	0.12182	0.205	0.09310	N	1	B	0.20780	0.048	B	0.11329	0.006	T	0.15780	-1.0425	10	0.07644	T	0.81	-0.007	4.2395	0.10642	0.2747:0.3838:0.3414:0.0	.	349	Q17R55	F187B_HUMAN	V	349	ENSP00000323355:A349V	ENSP00000323355:A349V	A	-	2	0	FAM187B	40407632	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	0.008000	0.13197	-0.454000	0.07066	-0.253000	0.11424	GCG	FAM187B	-	NULL	ENSG00000177558		0.687	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM187B	HGNC	protein_coding	OTTHUMT00000378854.1	22	0.00	0	G	NM_152481		35715792	35715792	-1	no_errors	ENST00000324675	ensembl	human	known	69_37n	missense	9	50.00	9	SNP	0.000	A
FAM91A1	157769	genome.wustl.edu	37	8	124798772	124798772	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr8:124798772G>T	ENST00000334705.7	+	12	1246	c.1000G>T	c.(1000-1002)Gat>Tat	p.D334Y	FAM91A1_ENST00000521166.1_Missense_Mutation_p.D334Y	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	334										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CTTGTCATGGGATGGAGGGGA	0.368																																						dbGAP											0													117.0	112.0	113.0					8																	124798772		1881	4115	5996	-	-	-	SO:0001583	missense	0			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1000G>T	8.37:g.124798772G>T	ENSP00000335082:p.Asp334Tyr		B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	NULL	p.D334Y	ENST00000334705.7	37	c.1000	CCDS6346.2	8	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936053	0.73442	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.48522	0.81;1.39	5.58	5.58	0.84498	.	0.048483	0.85682	D	0.000000	T	0.52980	0.1768	L	0.32530	0.975	0.80722	D	1	D;P	0.58620	0.983;0.904	P;P	0.56700	0.804;0.563	T	0.37150	-0.9718	10	0.19590	T	0.45	.	19.5724	0.95427	0.0:0.0:1.0:0.0	.	334;334	E7ER68;Q658Y4	.;F91A1_HUMAN	Y	334	ENSP00000429491:D334Y;ENSP00000335082:D334Y	ENSP00000335082:D334Y	D	+	1	0	FAM91A1	124867953	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	9.547000	0.98100	2.624000	0.88883	0.650000	0.86243	GAT	FAM91A1	-	NULL	ENSG00000176853		0.368	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM91A1	HGNC	protein_coding	OTTHUMT00000256607.1	242	0.00	0	G	NM_144963		124798772	124798772	+1	no_errors	ENST00000334705	ensembl	human	known	69_37n	missense	538	10.17	61	SNP	1.000	T
FREM1	158326	genome.wustl.edu	37	9	14859403	14859403	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr9:14859403T>C	ENST00000380880.3	-	4	1192	c.409A>G	c.(409-411)Atg>Gtg	p.M137V	FREM1_ENST00000380881.4_Missense_Mutation_p.M137V|FREM1_ENST00000422223.2_Missense_Mutation_p.M137V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	137					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTGTTACTCATATGGATGATG	0.423																																						dbGAP											0													145.0	140.0	142.0					9																	14859403		1886	4112	5998	-	-	-	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.409A>G	9.37:g.14859403T>C	ENSP00000370262:p.Met137Val		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.M137V	ENST00000380880.3	37	c.409	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	T	11.44	1.638016	0.29157	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.09163	3.01;3.01;3.01	5.95	4.8	0.61643	.	0.248184	0.49916	D	0.000127	T	0.10723	0.0262	L	0.50333	1.59	0.31176	N	0.702604	B	0.11235	0.004	B	0.13407	0.009	T	0.16100	-1.0414	10	0.11182	T	0.66	-13.4991	12.2334	0.54500	0.0:0.0:0.2686:0.7314	.	137	Q5H8C1	FREM1_HUMAN	V	137	ENSP00000370263:M137V;ENSP00000412940:M137V;ENSP00000370262:M137V	ENSP00000370257:M137V	M	-	1	0	FREM1	14849403	0.354000	0.24912	0.623000	0.29173	0.979000	0.70002	0.500000	0.22562	1.042000	0.40150	0.533000	0.62120	ATG	FREM1	-	NULL	ENSG00000164946		0.423	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	495	0.00	0	T	NM_144966		14859403	14859403	-1	no_errors	ENST00000380881	ensembl	human	known	69_37n	missense	358	11.60	47	SNP	0.908	C
GFRA3	2676	genome.wustl.edu	37	5	137599965	137599965	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr5:137599965G>A	ENST00000274721.3	-	2	610	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	GFRA3_ENST00000378362.3_Missense_Mutation_p.R122C	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	122					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTGCGGGCACGGTGAACGGTC	0.547																																						dbGAP											0													81.0	73.0	76.0					5																	137599965		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.364C>T	5.37:g.137599965G>A	ENSP00000274721:p.Arg122Cys		B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3	p.R122C	ENST00000274721.3	37	c.364	CCDS4201.1	5	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572558	0.45798	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.65178	-0.14;-0.14	5.28	0.807	0.18714	GDNF/GAS1 (2);	0.765819	0.12459	N	0.467035	T	0.40645	0.1125	N	0.08118	0	0.27718	N	0.945229	P;D	0.54047	0.955;0.964	B;P	0.45946	0.365;0.498	T	0.30736	-0.9968	10	0.56958	D	0.05	-0.0074	4.5155	0.11934	0.2918:0.0:0.5481:0.1601	.	122;122	O60609-2;O60609	.;GFRA3_HUMAN	C	122	ENSP00000274721:R122C;ENSP00000367613:R122C	ENSP00000274721:R122C	R	-	1	0	GFRA3	137627864	0.976000	0.34144	0.924000	0.36721	0.847000	0.48162	0.248000	0.18198	0.213000	0.20722	0.561000	0.74099	CGT	GFRA3	-	pfam_GDNF/GAS1,smart_GDNF/GAS1	ENSG00000146013		0.547	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GFRA3	HGNC	protein_coding	OTTHUMT00000251277.1	71	0.00	0	G	NM_001496		137599965	137599965	-1	no_errors	ENST00000274721	ensembl	human	known	69_37n	missense	119	11.85	16	SNP	0.843	A
HOXA1	3198	genome.wustl.edu	37	7	27134950	27134950	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr7:27134950G>A	ENST00000355633.5	-	2	462	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000343060.4_Silent_p.P194P|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000425358.2_RNA	NM_153620.2	NP_705873	P49639	HXA1_HUMAN	homeobox A1	0					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCTCCGATGCGGGGGAGCGAC	0.547																																						dbGAP											0													74.0	84.0	81.0					7																	27134950		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000355633.5:c.379C>T	7.37:g.27134950G>A	ENSP00000347851:p.Arg127Cys		A4D184|B2R8U7|O43363	Missense_Mutation	SNP	NULL	p.R127C	ENST00000355633.5	37	c.379	CCDS5402.2	7	.	.	.	.	.	.	.	.	.	.	A	8.189	0.795547	0.16327	.	.	ENSG00000105991	ENST00000355633	T	0.47528	0.84	5.01	2.53	0.30540	.	.	.	.	.	T	0.33118	0.0852	.	.	.	0.36206	D	0.851041	B	0.06786	0.001	B	0.01281	0.0	T	0.16305	-1.0407	8	0.40728	T	0.16	.	5.2439	0.15487	0.6232:0.1424:0.2345:0.0	.	127	E7ERT8	.	C	127	ENSP00000347851:R127C	ENSP00000347851:R127C	R	-	1	0	HOXA1	27101475	1.000000	0.71417	0.729000	0.30791	0.530000	0.34684	2.248000	0.43160	0.048000	0.15891	-0.361000	0.07541	CGC	HOXA1	-	NULL	ENSG00000105991		0.547	HOXA1-002	KNOWN	basic|exp_conf|CCDS	protein_coding	HOXA1	HGNC	protein_coding	OTTHUMT00000358455.1	54	0.00	0	G			27134950	27134950	-1	no_errors	ENST00000355633	ensembl	human	known	69_37n	missense	42	30.00	18	SNP	0.950	A
ITPR3	3710	genome.wustl.edu	37	6	33639885	33639885	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr6:33639885C>G	ENST00000374316.5	+	23	3868	c.2808C>G	c.(2806-2808)ttC>ttG	p.F936L	ITPR3_ENST00000605930.1_Missense_Mutation_p.F936L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	936					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	AGTCCGTCTTCAGTGCCCCCA	0.607																																						dbGAP											0													85.0	76.0	79.0					6																	33639885		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2808C>G	6.37:g.33639885C>G	ENSP00000363435:p.Phe936Leu		Q14649|Q5TAQ2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.F936L	ENST00000374316.5	37	c.2808	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	C	6.776	0.512026	0.12944	.	.	ENSG00000096433	ENST00000374316	D	0.91407	-2.84	5.46	-2.16	0.07080	.	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	N	0.20685	0.6	0.37709	D	0.924495	B	0.06786	0.001	B	0.08055	0.003	T	0.47736	-0.9094	10	0.14656	T	0.56	-12.0485	12.4853	0.55868	0.0:0.6549:0.0:0.3451	.	936	Q14573	ITPR3_HUMAN	L	936	ENSP00000363435:F936L	ENSP00000363435:F936L	F	+	3	2	ITPR3	33747863	0.037000	0.19845	0.781000	0.31783	0.355000	0.29361	-0.425000	0.07017	-0.429000	0.07329	-0.140000	0.14226	TTC	ITPR3	-	NULL	ENSG00000096433		0.607	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	15	0.00	0	C	NM_002224		33639885	33639885	+1	no_errors	ENST00000374316	ensembl	human	known	69_37n	missense	12	45.45	10	SNP	0.920	G
MGAT4A	11320	genome.wustl.edu	37	2	99272904	99272904	+	Silent	SNP	G	G	A			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr2:99272904G>A	ENST00000264968.3	-	6	972	c.609C>T	c.(607-609)ggC>ggT	p.G203G	MGAT4A_ENST00000414521.2_Silent_p.G75G|MGAT4A_ENST00000393487.1_Silent_p.G203G|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000409391.1_Silent_p.G203G			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	203					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CTTCCACCAAGCCAGAACTGA	0.368																																						dbGAP											0													113.0	118.0	117.0					2																	99272904		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.609C>T	2.37:g.99272904G>A			B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Silent	SNP	pfam_Glyco_transf_54	p.G203	ENST00000264968.3	37	c.609	CCDS2036.1	2																																																																																			MGAT4A	-	pfam_Glyco_transf_54	ENSG00000071073		0.368	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT4A	HGNC	protein_coding	OTTHUMT00000252988.2	221	0.00	0	G	NM_012214		99272904	99272904	-1	no_errors	ENST00000264968	ensembl	human	known	69_37n	silent	229	10.55	27	SNP	0.449	A
KMT2C	58508	genome.wustl.edu	37	7	151891576	151891576	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr7:151891576C>A	ENST00000262189.6	-	29	4674	c.4456G>T	c.(4456-4458)Gaa>Taa	p.E1486*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.E1486*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1486					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTAGCTGTTCTTCACTTAAT	0.393																																						dbGAP											0													122.0	114.0	117.0					7																	151891576		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4456G>T	7.37:g.151891576C>A	ENSP00000262189:p.Glu1486*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E1486*	ENST00000262189.6	37	c.4456	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	47	12.970661	0.99710	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.7	5.7	0.88788	.	0.000000	0.46758	D	0.000271	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	19.8232	0.96605	0.0:1.0:0.0:0.0	.	.	.	.	X	1486	.	ENSP00000262189:E1486X	E	-	1	0	MLL3	151522509	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.763000	0.68818	2.684000	0.91462	0.650000	0.86243	GAA	MLL3	-	NULL	ENSG00000055609		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	156	0.00	0	C			151891576	151891576	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	nonsense	170	11.46	22	SNP	1.000	A
NXF1	10482	genome.wustl.edu	37	11	62562413	62562413	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr11:62562413T>C	ENST00000532297.1	-	19	2200	c.1571A>G	c.(1570-1572)aAt>aGt	p.N524S	NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000531709.2_3'UTR|TMEM223_ENST00000307366.7_5'Flank|TMEM223_ENST00000525631.1_5'Flank|NXF1_ENST00000294172.2_Missense_Mutation_p.N524S			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	524	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTACCCTGAATTGCTAGCAGG	0.478																																						dbGAP											0													107.0	90.0	96.0					11																	62562413		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1571A>G	11.37:g.62562413T>C	ENSP00000436679:p.Asn524Ser		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.N524S	ENST00000532297.1	37	c.1571	CCDS8037.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.848|7.848	0.723307|0.723307	0.15439|0.15439	.|.	.|.	ENSG00000162231|ENSG00000162231	ENST00000527902|ENST00000294172;ENST00000532297;ENST00000530875	.|T;T;T	.|0.63255	.|-0.03;-0.03;-0.03	4.66|4.66	2.31|2.31	0.28768|0.28768	.|Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	.|0.199621	.|0.51477	.|N	.|0.000082	T|T	0.37320|0.37320	0.0999|0.0999	N|N	0.20807|0.20807	0.61|0.61	0.80722|0.80722	D|D	1|1	.|B;B	.|0.13145	.|0.007;0.001	.|B;B	.|0.12156	.|0.007;0.001	T|T	0.09207|0.09207	-1.0685|-1.0685	5|10	.|0.07990	.|T	.|0.79	-13.6057|-13.6057	5.8267|5.8267	0.18558|0.18558	0.0:0.0904:0.1694:0.7402|0.0:0.0904:0.1694:0.7402	.|.	.|567;524	.|E9PIN3;Q9UBU9	.|.;NXF1_HUMAN	V|S	43|524;524;567	.|ENSP00000294172:N524S;ENSP00000436679:N524S;ENSP00000435742:N567S	.|ENSP00000294172:N524S	I|N	-|-	1|2	0|0	NXF1|NXF1	62318989|62318989	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.758000|0.758000	0.43043|0.43043	1.092000|1.092000	0.30927|0.30927	0.381000|0.381000	0.24851|0.24851	0.374000|0.374000	0.22700|0.22700	ATT|AAT	NXF1	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	ENSG00000162231		0.478	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	73	0.00	0	T	NM_006362		62562413	62562413	-1	no_errors	ENST00000294172	ensembl	human	known	69_37n	missense	47	21.67	13	SNP	1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	128	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	66	47.62	60	SNP	1.000	A
PPP2R3C	55012	genome.wustl.edu	37	14	35577392	35577392	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr14:35577392T>C	ENST00000261475.5	-	5	808	c.455A>G	c.(454-456)tAt>tGt	p.Y152C	PPP2R3C_ENST00000555644.1_Missense_Mutation_p.Y152C	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	152					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		AATTCTTCCATATGAATCTGT	0.308																																						dbGAP											0													67.0	72.0	70.0					14																	35577392		2203	4294	6497	-	-	-	SO:0001583	missense	0			AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.455A>G	14.37:g.35577392T>C	ENSP00000261475:p.Tyr152Cys		B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	NULL	p.Y152C	ENST00000261475.5	37	c.455	CCDS9654.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.1|26.1	4.705128|4.705128	0.89018|0.89018	.|.	.|.	ENSG00000092020|ENSG00000092020	ENST00000555614|ENST00000261475;ENST00000554361;ENST00000555644;ENST00000557278	.|T;T	.|0.29142	.|1.58;1.58	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53158|0.53158	0.1779|0.1779	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.998	.|P;P	.|0.61722	.|0.893;0.849	T|T	0.53272|0.53272	-0.8462|-0.8462	5|10	.|0.42905	.|T	.|0.14	-7.6258|-7.6258	16.1547|16.1547	0.81649|0.81649	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|152;152	.|Q86US5;Q969Q6	.|.;P2R3C_HUMAN	M|C	80|152;124;152;152	.|ENSP00000261475:Y152C;ENSP00000450716:Y124C	.|ENSP00000261475:Y152C	I|Y	-|-	3|2	3|0	PPP2R3C|PPP2R3C	34647143|34647143	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.978000|7.978000	0.88095|0.88095	2.221000|2.221000	0.72209|0.72209	0.528000|0.528000	0.53228|0.53228	ATA|TAT	PPP2R3C	-	NULL	ENSG00000092020		0.308	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3C	HGNC	protein_coding	OTTHUMT00000276687.1	76	0.00	0	T	NM_017917		35577392	35577392	-1	no_errors	ENST00000261475	ensembl	human	known	69_37n	missense	46	50.54	47	SNP	1.000	C
RAB4B	53916	genome.wustl.edu	37	19	41286351	41286351	+	Silent	SNP	T	T	A			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr19:41286351T>A	ENST00000594800.1	+	3	319	c.159T>A	c.(157-159)ggT>ggA	p.G53G	MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B-EGLN2_ENST00000594136.1_Silent_p.G53G|RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000602069.1_3'UTR|RAB4B_ENST00000357052.2_Silent_p.G53G			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	53					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCAACGTGGGTGGGAAGACTG	0.587																																						dbGAP											0													90.0	74.0	80.0					19																	41286351		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"""RAB, member RAS oncogene"""	9782	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein 4b"", ""small GTP binding protein RAB4B"""	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.159T>A	19.37:g.41286351T>A			P22750|Q7Z514|Q9HBR6	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G53	ENST00000594800.1	37	c.159	CCDS33030.1	19																																																																																			RAB4B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000167578		0.587	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB4B	HGNC	protein_coding	OTTHUMT00000463168.1	16	0.00	0	T	NM_016154		41286351	41286351	+1	no_errors	ENST00000357052	ensembl	human	known	69_37n	silent	11	38.89	7	SNP	0.997	A
RRAGD	58528	genome.wustl.edu	37	6	90088968	90088968	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr6:90088968T>C	ENST00000369415.4	-	4	1010	c.734A>G	c.(733-735)gAg>gGg	p.E245G	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Missense_Mutation_p.E94G	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CAGCAAATTCTCCAGAGTTGG	0.318																																						dbGAP											0													89.0	91.0	90.0					6																	90088968		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.734A>G	6.37:g.90088968T>C	ENSP00000358423:p.Glu245Gly			Missense_Mutation	SNP	pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su	p.E245G	ENST00000369415.4	37	c.734	CCDS5022.1	6	.	.	.	.	.	.	.	.	.	.	T	29.0	4.964916	0.92855	.	.	ENSG00000025039	ENST00000369415;ENST00000359203	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.85039	0.5606	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89366	0.3671	9	0.87932	D	0	-16.5962	16.4075	0.83691	0.0:0.0:0.0:1.0	.	245	Q9NQL2	RRAGD_HUMAN	G	245;94	.	ENSP00000352131:E94G	E	-	2	0	RRAGD	90145687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.275000	0.75901	0.528000	0.53228	GAG	RRAGD	-	pfam_Gtr1_RagA	ENSG00000025039		0.318	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAGD	HGNC	protein_coding	OTTHUMT00000041484.1	94	0.00	0	T	NM_021244		90088968	90088968	-1	no_errors	ENST00000369415	ensembl	human	known	69_37n	missense	65	32.65	32	SNP	1.000	C
SCARA3	51435	genome.wustl.edu	37	8	27528481	27528481	+	Silent	SNP	C	C	T	rs559364793		TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr8:27528481C>T	ENST00000301904.3	+	6	1454	c.1434C>T	c.(1432-1434)ggC>ggT	p.G478G	SCARA3_ENST00000337221.4_Intron	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	478	Collagen-like 1.				receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)	p.G478G(1)		breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GGCCTGTTGGCGGCAGAGGCC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15439	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											47.0	57.0	53.0					8																	27528481		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.1434C>T	8.37:g.27528481C>T			Q9UM15|Q9UM16	Silent	SNP	pfam_Collagen	p.G478	ENST00000301904.3	37	c.1434	CCDS34871.1	8																																																																																			SCARA3	-	pfam_Collagen	ENSG00000168077		0.657	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARA3	HGNC	protein_coding	OTTHUMT00000376258.2	36	0.00	0	C	NM_016240		27528481	27528481	+1	no_errors	ENST00000301904	ensembl	human	known	69_37n	silent	36	18.18	8	SNP	0.002	T
SCN10A	6336	genome.wustl.edu	37	3	38760181	38760181	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr3:38760181G>C	ENST00000449082.2	-	20	3643	c.3644C>G	c.(3643-3645)aCc>aGc	p.T1215S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1215					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCAGGCATTGGTGAAGTACTT	0.517																																						dbGAP											0													120.0	109.0	113.0					3																	38760181		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3644C>G	3.37:g.38760181G>C	ENSP00000390600:p.Thr1215Ser		A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.T1215S	ENST00000449082.2	37	c.3644	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397256	0.83120	.	.	ENSG00000185313	ENST00000449082	D	0.98419	-4.92	4.45	4.45	0.53987	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98551	0.9516	L	0.58583	1.82	0.51767	D	0.999933	D	0.89917	1.0	D	0.87578	0.998	D	0.99877	1.1106	10	0.87932	D	0	.	17.2816	0.87130	0.0:0.0:1.0:0.0	.	1215	Q9Y5Y9	SCNAA_HUMAN	S	1215	ENSP00000390600:T1215S	ENSP00000390600:T1215S	T	-	2	0	SCN10A	38735185	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.312000	0.78011	0.655000	0.94253	ACC	SCN10A	-	pfam_Ion_trans_dom	ENSG00000185313		0.517	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	147	0.00	0	G	NM_006514		38760181	38760181	-1	no_errors	ENST00000449082	ensembl	human	known	69_37n	missense	130	39.63	86	SNP	1.000	C
SLCO1B3	28234	genome.wustl.edu	37	12	21030801	21030801	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr12:21030801T>G	ENST00000381545.3	+	10	1285	c.1066T>G	c.(1066-1068)Ttt>Gtt	p.F356V	LST3_ENST00000540229.1_Missense_Mutation_p.F356V|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.F356V|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.F356V|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	356					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TATTGGTTCTTTTACTTACGT	0.343																																						dbGAP											0													133.0	131.0	132.0					12																	21030801		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1066T>G	12.37:g.21030801T>G	ENSP00000370956:p.Phe356Val		E7EMT8|Q5JAR4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.F356V	ENST00000381545.3	37	c.1066	CCDS8684.1	12	.	.	.	.	.	.	.	.	.	.	.	0.042	-1.280322	0.01398	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	3.13	-5.87	0.02297	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.643861	0.15202	N	0.274975	T	0.13072	0.0317	L	0.28274	0.84	0.21967	N	0.999445	B;B;B	0.31026	0.304;0.003;0.003	B;B;B	0.26310	0.068;0.019;0.019	T	0.41305	-0.9516	10	0.02654	T	1	.	4.3421	0.11115	0.3982:0.0999:0.0:0.5019	.	356;356;356	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	V	356;356;356;180;356	ENSP00000261196:F356V;ENSP00000370956:F356V;ENSP00000451758:F356V;ENSP00000443225:F180V;ENSP00000441269:F356V	ENSP00000441269:F356V	F	+	1	0	SLCO1B3;RP11-545J16.1	20922068	0.000000	0.05858	0.011000	0.14972	0.082000	0.17680	-2.952000	0.00677	-0.723000	0.04915	0.254000	0.18369	TTT	SLCO1B3	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000111700		0.343	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	158	0.00	0	T	NM_019844		21030801	21030801	+1	no_errors	ENST00000553473	ensembl	human	known	69_37n	missense	156	19.07	37	SNP	0.032	G
SPRR2D	6703	genome.wustl.edu	37	1	153012797	153012797	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr1:153012797T>C	ENST00000368757.1	-	2	306	c.26A>G	c.(25-27)aAg>aGg	p.K9R	SPRR2D_ENST00000368756.1_Missense_Mutation_p.K9R|SPRR2D_ENST00000360379.3_Missense_Mutation_p.K9R|SPRR2D_ENST00000368758.3_Missense_Mutation_p.K9R			P22532	SPR2D_HUMAN	small proline-rich protein 2D	9					epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGGGCTGCTTGCACTGCTG	0.567																																						dbGAP											0													26.0	26.0	26.0					1																	153012797		2184	4262	6446	-	-	-	SO:0001583	missense	0			AF333954	CCDS30864.1	1q21-q22	2008-02-05			ENSG00000163216	ENSG00000163216			11264	protein-coding gene	gene with protein product						8325635	Standard	NM_006945		Approved		uc001fbb.2	P22532	OTTHUMG00000014396	ENST00000368757.1:c.26A>G	1.37:g.153012797T>C	ENSP00000357746:p.Lys9Arg		A4QN03|A8K5K2|D3DV33|Q5T523|Q96RM3	Missense_Mutation	SNP	NULL	p.K9R	ENST00000368757.1	37	c.26	CCDS30864.1	1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.756595	0.31137	.	.	ENSG00000163216	ENST00000360379;ENST00000368758;ENST00000368757;ENST00000368756	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	3.82	3.82	0.43975	.	0.000000	0.37304	N	0.002144	T	0.47488	0.1448	.	.	.	0.23795	N	0.996825	D	0.67145	0.996	D	0.75484	0.986	T	0.36407	-0.9749	9	0.87932	D	0	.	9.2596	0.37603	0.0:0.0:0.0:1.0	.	9	P22532	SPR2D_HUMAN	R	9	ENSP00000353542:K9R;ENSP00000357747:K9R;ENSP00000357746:K9R;ENSP00000357745:K9R	ENSP00000353542:K9R	K	-	2	0	SPRR2D	151279421	1.000000	0.71417	0.996000	0.52242	0.905000	0.53344	3.652000	0.54439	1.503000	0.48686	0.374000	0.22700	AAG	SPRR2D	-	NULL	ENSG00000163216		0.567	SPRR2D-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRR2D	HGNC	protein_coding	OTTHUMT00000040051.1	155	0.00	0	T			153012797	153012797	-1	no_errors	ENST00000360379	ensembl	human	known	69_37n	missense	229	14.18	38	SNP	1.000	C
TRAK2	66008	genome.wustl.edu	37	2	202272210	202272210	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr2:202272210C>G	ENST00000332624.3	-	3	630	c.202G>C	c.(202-204)Gac>Cac	p.D68H	TRAK2_ENST00000430254.1_Missense_Mutation_p.D68H	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	68	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TGAGTCCAGTCTTGATTTTCA	0.438																																						dbGAP											0													110.0	97.0	101.0					2																	202272210		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.202G>C	2.37:g.202272210C>G	ENSP00000328875:p.Asp68His		E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.D68H	ENST00000332624.3	37	c.202	CCDS2347.1	2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214323	0.79352	.	.	ENSG00000115993	ENST00000332624;ENST00000430254	T;T	0.19806	2.12;2.12	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.44222	0.1283	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.72338	0.947;0.977	T	0.37220	-0.9715	10	0.87932	D	0	.	12.8937	0.58087	0.0:0.922:0.0:0.078	.	68;68	E7EV21;O60296	.;TRAK2_HUMAN	H	68	ENSP00000328875:D68H;ENSP00000409333:D68H	ENSP00000328875:D68H	D	-	1	0	TRAK2	201980455	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.067000	0.57527	2.596000	0.87737	0.563000	0.77884	GAC	TRAK2	-	pfam_HAP1_N	ENSG00000115993		0.438	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	HGNC	protein_coding	OTTHUMT00000256284.3	146	0.00	0	C	NM_015049		202272210	202272210	-1	no_errors	ENST00000332624	ensembl	human	known	69_37n	missense	128	12.33	18	SNP	1.000	G
TBC1D31	93594	genome.wustl.edu	37	8	124096492	124096494	+	In_Frame_Del	DEL	CTT	CTT	-	rs201913332		TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr8:124096492_124096494delCTT	ENST00000287380.1	+	4	521_523	c.431_433delCTT	c.(430-435)acttct>act	p.S146del	TBC1D31_ENST00000309336.3_In_Frame_Del_p.S146del|TBC1D31_ENST00000521676.1_In_Frame_Del_p.S41del|TBC1D31_ENST00000522420.1_In_Frame_Del_p.S41del|TBC1D31_ENST00000378080.2_In_Frame_Del_p.S41del|TBC1D31_ENST00000327098.5_In_Frame_Del_p.S146del	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	146						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										GCCATCACAACTTCTTCTGATAC	0.433																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.431_433delCTT	8.37:g.124096495_124096497delCTT	ENSP00000287380:p.Ser146del		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	In_Frame_Del	DEL	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.S146in_frame_del	ENST00000287380.1	37	c.431_433	CCDS6338.1	8																																																																																			WDR67	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000156787		0.433	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR67	HGNC	protein_coding	OTTHUMT00000381721.1	331	0.00	0	CTT	NM_145647		124096492	124096494	+1	no_errors	ENST00000287380	ensembl	human	known	69_37n	in_frame_del	937	18.09	207	DEL	1.000:0.990:1.000	-
ZNF710	374655	genome.wustl.edu	37	15	90611696	90611696	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr15:90611696delT	ENST00000268154.4	+	2	1578	c.1327delT	c.(1327-1329)tccfs	p.S443fs		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GTGTGACAAGTCCTTCCACTA	0.612																																						dbGAP											0													121.0	104.0	110.0					15																	90611696		2200	4298	6498	-	-	-	SO:0001589	frameshift_variant	0			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1327delT	15.37:g.90611696delT	ENSP00000268154:p.Ser443fs		A0AVS3|Q6ZMK9|Q8NDU0	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S443fs	ENST00000268154.4	37	c.1327	CCDS10358.1	15																																																																																			ZNF710	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000140548		0.612	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF710	HGNC	protein_coding	OTTHUMT00000313423.1	76	0.00	0	T	NM_198526		90611696	90611696	+1	no_errors	ENST00000268154	ensembl	human	known	69_37n	frame_shift_del	71	36.28	41	DEL	1.000	-
ZNF710	374655	genome.wustl.edu	37	15	90611700	90611701	+	Frame_Shift_Ins	INS	-	-	G	rs74417237	byFrequency	TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr15:90611700_90611701insG	ENST00000268154.4	+	2	1582_1583	c.1331_1332insG	c.(1330-1335)ttccacfs	p.FH444fs		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GACAAGTCCTTCCACTACCGCA	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	Exception_encountered	15.37:g.90611700_90611701insG	ENSP00000268154:p.Phe444fs		A0AVS3|Q6ZMK9|Q8NDU0	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F444fs	ENST00000268154.4	37	c.1331_1332	CCDS10358.1	15																																																																																			ZNF710	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000140548		0.614	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF710	HGNC	protein_coding	OTTHUMT00000313423.1	77	0.00	0	-	NM_198526		90611700	90611701	+1	no_errors	ENST00000268154	ensembl	human	known	69_37n	frame_shift_ins	75	36.97	44	INS	1.000:1.000	G
ZNF831	128611	genome.wustl.edu	37	20	57768844	57768844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A08P-01A-11W-A019-09	TCGA-A8-A08P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2fbe3da3-ce62-4edf-933b-367f983e221a	fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0	g.chr20:57768844C>T	ENST00000371030.2	+	1	2770	c.2770C>T	c.(2770-2772)Cag>Tag	p.Q924*		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	924							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CACCCCACCTCAGGCTCCTAG	0.627																																						dbGAP											0													38.0	39.0	39.0					20																	57768844		1940	4143	6083	-	-	-	SO:0001587	stop_gained	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2770C>T	20.37:g.57768844C>T	ENSP00000360069:p.Gln924*		Q5TDR4|Q8TCP0	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q924*	ENST00000371030.2	37	c.2770	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	C	37	6.314011	0.97467	.	.	ENSG00000124203	ENST00000371030	.	.	.	4.38	1.21	0.21127	.	1.069410	0.07448	N	0.898505	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	0.2134	3.1022	0.06330	0.181:0.5436:0.1754:0.1	.	.	.	.	X	924	.	ENSP00000360069:Q924X	Q	+	1	0	ZNF831	57202239	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.563000	0.23547	0.060000	0.16281	-0.181000	0.13052	CAG	ZNF831	-	NULL	ENSG00000124203		0.627	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	22	0.00	0	C	NM_178457		57768844	57768844	+1	no_errors	ENST00000371030	ensembl	human	novel	69_37n	nonsense	22	23.33	7	SNP	0.000	T
