#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACOT8	10005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44477168	44477168	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr20:44477168G>T	ENST00000217455.4	-	3	499	c.409C>A	c.(409-411)Cag>Aag	p.Q137K		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	137					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.Q137K(1)		kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				AACTGGTGCTGCATGGGGCTG	0.592																																																	1	Substitution - Missense(1)	kidney(1)											181.0	174.0	176.0					20																	44477168		2203	4300	6503	SO:0001583	missense	10005			AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.409C>A	20.37:g.44477168G>T	ENSP00000217455:p.Gln137Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O15261|Q17RX4	Missense_Mutation	SNP	ENST00000217455.4	37	CCDS13378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.09|17.09	3.300785|3.300785	0.60195|0.60195	.|.	.|.	ENSG00000101473|ENSG00000101473	ENST00000487205|ENST00000217455	.|.	.|.	.|.	5.38|5.38	3.38|3.38	0.38709|0.38709	.|.	.|0.055006	.|0.85682	.|D	.|0.000000	.|T	.|0.58424	.|0.2121	L|L	0.52573|0.52573	1.65|1.65	0.53688|0.53688	D|D	0.999975|0.999975	.|P;P;B	.|0.45768	.|0.515;0.866;0.201	.|B;P;B	.|0.48270	.|0.246;0.572;0.055	.|T	.|0.61486	.|-0.7053	.|9	.|0.72032	.|D	.|0.01	.|.	12.3009|12.3009	0.54874|0.54874	0.0:0.1293:0.736:0.1347|0.0:0.1293:0.736:0.1347	.|.	.|137;84;137	.|B4DLF4;A8K8X9;O14734	.|.;.;ACOT8_HUMAN	X|K	91|137	.|.	.|ENSP00000217455:Q137K	C|Q	-|-	3|1	2|0	ACOT8|ACOT8	43910575|43910575	1.000000|1.000000	0.71417|0.71417	0.713000|0.713000	0.30519|0.30519	0.977000|0.977000	0.68977|0.68977	5.519000|5.519000	0.67074|0.67074	0.785000|0.785000	0.33685|0.33685	0.655000|0.655000	0.94253|0.94253	TGC|CAG		0.592	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2		NM_183386	
ACSF2	80221	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48539834	48539834	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr17:48539834T>C	ENST00000300441.4	+	6	784	c.680T>C	c.(679-681)cTg>cCg	p.L227P	ACSF2_ENST00000427954.2_Missense_Mutation_p.L252P|ACSF2_ENST00000504392.1_Missense_Mutation_p.L184P|ACSF2_ENST00000502667.1_Missense_Mutation_p.L214P|ACSF2_ENST00000541920.1_Missense_Mutation_p.L67P	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	227					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)	p.L227P(1)		endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCGGGGACCCTGCTCCTGGAT	0.622																																																	1	Substitution - Missense(1)	kidney(1)											75.0	72.0	73.0					17																	48539834		2203	4300	6503	SO:0001583	missense	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.680T>C	17.37:g.48539834T>C	ENSP00000300441:p.Leu227Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	37	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.129319	0.77549	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.57	5.57	0.84162	AMP-dependent synthetase/ligase (1);	0.171089	0.42548	D	0.000686	T	0.66915	0.2838	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.65815	0.995;0.995;0.995;0.995	D;D;D;D	0.68943	0.961;0.961;0.961;0.961	T	0.69015	-0.5257	10	0.62326	D	0.03	-14.8474	15.7325	0.77817	0.0:0.0:0.0:1.0	.	214;252;184;227	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	P	227;67;184;252;214	ENSP00000300441:L227P;ENSP00000437987:L67P;ENSP00000425964:L184P;ENSP00000401831:L252P;ENSP00000421884:L214P	ENSP00000300441:L227P	L	+	2	0	ACSF2	45894833	0.994000	0.37717	0.995000	0.50966	0.683000	0.39861	7.409000	0.80053	2.116000	0.64780	0.460000	0.39030	CTG		0.622	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3		NM_025149	
TEX26	122046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	31526903	31526903	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr13:31526903G>T	ENST00000380473.3	+	3	266	c.253G>T	c.(253-255)Gat>Tat	p.D85Y		NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	85								p.D85Y(1)									CTCTAAAGAAGATTTGATCAA	0.328																																																	1	Substitution - Missense(1)	kidney(1)											110.0	105.0	106.0					13																	31526903		2203	4296	6499	SO:0001583	missense	0			BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 26"""	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.253G>T	13.37:g.31526903G>T	ENSP00000369840:p.Asp85Tyr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000380473.3	37	CCDS9339.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843873	0.51164	.	.	ENSG00000175664	ENST00000380473	T	0.47869	0.83	4.5	2.36	0.29203	.	0.512547	0.18350	N	0.143920	T	0.50854	0.1640	L	0.57536	1.79	0.09310	N	1	D	0.60160	0.987	P	0.55303	0.773	T	0.40136	-0.9579	10	0.72032	D	0.01	-7.7774	4.4883	0.11801	0.1583:0.2166:0.6251:0.0	.	85	Q8N6G2	CM026_HUMAN	Y	85	ENSP00000369840:D85Y	ENSP00000369840:D85Y	D	+	1	0	C13orf26	30424903	0.766000	0.28496	0.009000	0.14445	0.563000	0.35712	1.240000	0.32731	0.898000	0.36418	0.467000	0.42956	GAT		0.328	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2		NM_152325	
HEATR9	256957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34182253	34182253	+	Silent	SNP	T	T	C			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr17:34182253T>C	ENST00000311880.2	-	15	1675	c.1527A>G	c.(1525-1527)caA>caG	p.Q509Q	C17orf66_ENST00000592980.1_Silent_p.Q469Q	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		509					hematopoietic progenitor cell differentiation (GO:0002244)			p.Q509Q(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GTCGAAAGTCTTGAATAGTTA	0.468																																																	1	Substitution - coding silent(1)	kidney(1)											168.0	162.0	164.0					17																	34182253		2203	4300	6503	SO:0001819	synonymous_variant	256957																														ENST00000311880.2:c.1527A>G	17.37:g.34182253T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	ENST00000311880.2	37	CCDS11299.1																																																																																				0.468	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			
SBSPON	157869	hgsc.bcm.edu	37	8	74005131	74005131	+	Missense_Mutation	SNP	A	A	G	rs59331088	byFrequency	TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr8:74005131A>G	ENST00000297354.6	-	1	376	c.172T>C	c.(172-174)Ttc>Ctc	p.F58L	SBSPON_ENST00000519697.1_Intron	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	58	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.		F -> L (in dbSNP:rs59331088). {ECO:0000269|PubMed:12107410}.		immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										TCCCCGGTGAAGCGACAGGCT	0.711													G|||	1839	0.367212	0.649	0.2738	5008	,	,		9492	0.2966		0.2873	False		,,,				2504	0.2076																0								G	LEU/PHE	2242,1716		657,928,394	26.0	38.0	34.0		172	3.2	1.0	8	dbSNP_129	34	2237,6025		307,1623,2201	yes	missense	C8orf84	NM_153225.3	22	964,2551,2595	GG,GA,AA		27.0758,43.3552,36.653	benign	58/265	74005131	4479,7741	1979	4131	6110	SO:0001583	missense	0				CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"""RPE spondin"", ""rpe-spondin"""		"""chromosome 8 open reading frame 84"""	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.172T>C	8.37:g.74005131A>G	ENSP00000297354:p.Phe58Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	CCDS43747.2	800	0.3663003663003663	324	0.6585365853658537	111	0.30662983425414364	163	0.28496503496503495	202	0.26649076517150394	G	10.70	1.423153	0.25639	0.566448	0.270758	ENSG00000164764	ENST00000297354	T	0.20738	2.05	5.15	3.25	0.37280	Somatomedin B domain (2);	0.526255	0.19119	N	0.122227	T	0.00012	0.0000	N	0.00707	-1.245	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35351	-0.9792	9	0.07990	T	0.79	-14.5554	7.5784	0.27950	0.1573:0.1376:0.7051:0.0	rs59331088;rs62510382	58	Q8IVN8	RPESP_HUMAN	L	58	ENSP00000297354:F58L	ENSP00000297354:F58L	F	-	1	0	C8orf84	74167685	0.163000	0.22920	0.998000	0.56505	0.992000	0.81027	0.807000	0.27140	1.175000	0.42826	-0.220000	0.12472	TTC		0.711	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2		NM_153225	
COL19A1	1310	broad.mit.edu;ucsc.edu	37	6	70733567	70733567	+	Nonsense_Mutation	SNP	G	G	T	rs547323366		TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr6:70733567G>T	ENST00000322773.4	+	12	1177	c.1075G>T	c.(1075-1077)Gaa>Taa	p.E359*		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	359	Collagen-like 2.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.E359*(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCTTAATGGAGAAAATGTAAG	0.338																																																	1	Substitution - Nonsense(1)	kidney(1)											93.0	90.0	91.0					6																	70733567		2203	4300	6503	SO:0001587	stop_gained	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1075G>T	6.37:g.70733567G>T	ENSP00000316030:p.Glu359*	Somatic		WXS	Illumina GAIIx	Phase_I	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Nonsense_Mutation	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	37	6.550794	0.97658	.	.	ENSG00000082293	ENST00000322773	.	.	.	5.5	1.1	0.20463	.	0.553541	0.18416	N	0.141888	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	7.3154	0.26498	0.481:0.2919:0.2271:0.0	.	.	.	.	X	359	.	ENSP00000316030:E359X	E	+	1	0	COL19A1	70790288	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	0.829000	0.27449	0.250000	0.21479	-0.165000	0.13383	GAA		0.338	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			
CSTF2T	23283	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	53458229	53458229	+	Missense_Mutation	SNP	C	C	T	rs374193081		TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr10:53458229C>T	ENST00000331173.4	-	1	1126	c.1081G>A	c.(1081-1083)Ggt>Agt	p.G361S	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	361	Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G361S(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		ATGGGGGGACCCTGATGGGGT	0.552																																																	1	Substitution - Missense(1)	kidney(1)											71.0	71.0	71.0					10																	53458229		2203	4300	6503	SO:0001583	missense	23283			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1081G>A	10.37:g.53458229C>T	ENSP00000332444:p.Gly361Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449218	0.84101	.	.	ENSG00000177613	ENST00000331173	T	0.25912	1.77	4.9	4.9	0.64082	.	0.179165	0.46442	D	0.000288	T	0.44414	0.1292	L	0.58101	1.795	0.51767	D	0.999931	D	0.89917	1.0	D	0.91635	0.999	T	0.11036	-1.0604	10	0.12766	T	0.61	-7.0361	15.9759	0.80063	0.0:1.0:0.0:0.0	.	361	Q9H0L4	CSTFT_HUMAN	S	361	ENSP00000332444:G361S	ENSP00000332444:G361S	G	-	1	0	CSTF2T	53128235	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.946000	0.63576	2.719000	0.93026	0.655000	0.94253	GGT		0.552	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1		NM_015235	
DMKN	93099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36003526	36003526	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr19:36003526T>G	ENST00000339686.3	-	2	769	c.593A>C	c.(592-594)aAt>aCt	p.N198T	DMKN_ENST00000451297.2_Missense_Mutation_p.N198T|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.N198T|DMKN_ENST00000429837.1_Missense_Mutation_p.N198T|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.N198T|DMKN_ENST00000447113.2_Missense_Mutation_p.N198T|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000419602.1_Missense_Mutation_p.N198T|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.N198T	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	198	Gly-rich.			N -> D (in Ref. 3; ABN11273). {ECO:0000305}.		extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.N198T(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGGCCCTCCATTGCCTCCTTG	0.617																																																	2	Substitution - Missense(2)	kidney(2)											109.0	115.0	113.0					19																	36003526		2203	4300	6503	SO:0001583	missense	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.593A>C	19.37:g.36003526T>G	ENSP00000342012:p.Asn198Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.640447	0.47153	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000429837;ENST00000419602;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T;T;T	0.21031	2.55;2.31;2.36;2.03;2.06;2.05;2.04;2.05	4.49	0.92	0.19397	.	0.574395	0.14486	N	0.316668	T	0.20047	0.0482	L	0.43152	1.355	0.09310	N	1	P;P;P;P;P;P;P	0.50819	0.939;0.939;0.939;0.939;0.939;0.793;0.939	P;P;P;P;P;B;P	0.48425	0.577;0.577;0.577;0.577;0.577;0.422;0.577	T	0.10823	-1.0613	10	0.72032	D	0.01	-1.9192	3.8289	0.08865	0.0:0.198:0.186:0.6159	.	198;198;198;198;198;198;198	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4	.;.;.;.;.;.;DMKN_HUMAN	T	198	ENSP00000342012:N198T;ENSP00000405503:N198T;ENSP00000391036:N198T;ENSP00000394908:N198T;ENSP00000415277:N198T;ENSP00000414743:N198T;ENSP00000388404:N198T;ENSP00000409513:N198T	ENSP00000342012:N198T	N	-	2	0	DMKN	40695366	0.003000	0.15002	0.008000	0.14137	0.039000	0.13416	1.270000	0.33086	0.298000	0.22638	0.533000	0.62120	AAT		0.617	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2		NM_033317	
DNAH17	8632	hgsc.bcm.edu	37	17	76486812	76486813	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr17:76486812_76486813delAG	ENST00000585328.1	-	44	6895_6896	c.6771_6772delCT	c.(6769-6774)ctctacfs	p.Y2258fs	RP11-559N14.5_ENST00000585969.1_RNA|RP11-559N14.5_ENST00000591373.1_RNA|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Frame_Shift_Del_p.Y2249fs	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2249	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGGTTGATGTAGAGGATGCCGG	0.594																																																	0																																										SO:0001589	frameshift_variant	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6771_6772delCT	17.37:g.76486814_76486815delAG	ENSP00000465516:p.Tyr2258fs	Somatic		WXS	Illumina HiSeq	Phase_I	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Frame_Shift_Del	DEL	ENST00000585328.1	37																																																																																					0.594	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		NM_173628	
EPHA8	2046	broad.mit.edu;hgsc.bcm.edu	37	1	22902833	22902833	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr1:22902833C>T	ENST00000166244.3	+	3	355	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	EPHA8_ENST00000538803.1_Missense_Mutation_p.R95W|EPHA8_ENST00000374644.4_Missense_Mutation_p.R95W	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	95	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.R95W(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGACGGCGCCCGGCGCGTCTA	0.607																																																	2	Substitution - Missense(2)	kidney(2)											60.0	61.0	61.0					1																	22902833		2203	4300	6503	SO:0001583	missense	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.283C>T	1.37:g.22902833C>T	ENSP00000166244:p.Arg95Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206186	0.58343	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.10288	2.89;2.89;2.89	4.29	3.34	0.38264	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	T	0.24812	0.0602	L	0.50333	1.59	0.51012	D	0.999903	D;D	0.89917	1.0;0.999	D;D	0.72338	0.977;0.963	T	0.00797	-1.1562	10	0.87932	D	0	.	11.7955	0.52098	0.1836:0.8163:0.0:0.0	.	95;95	P29322;P29322-2	EPHA8_HUMAN;.	W	95	ENSP00000166244:R95W;ENSP00000363775:R95W;ENSP00000440274:R95W	ENSP00000166244:R95W	R	+	1	2	EPHA8	22775420	0.286000	0.24305	0.997000	0.53966	0.653000	0.38743	2.046000	0.41260	0.950000	0.37743	0.442000	0.29010	CGG		0.607	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1		NM_020526	
EXOC4	60412	broad.mit.edu;ucsc.edu	37	7	133059626	133059626	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr7:133059626C>A	ENST00000253861.4	+	7	1081	c.1052C>A	c.(1051-1053)gCt>gAt	p.A351D	EXOC4_ENST00000539845.1_Missense_Mutation_p.A250D|EXOC4_ENST00000393161.2_Missense_Mutation_p.A351D	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	351					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)	p.A351D(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AAGTTTAATGCTGTAGCCGCT	0.433																																																	1	Substitution - Missense(1)	kidney(1)											135.0	125.0	128.0					7																	133059626		2203	4300	6503	SO:0001583	missense	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1052C>A	7.37:g.133059626C>A	ENSP00000253861:p.Ala351Asp	Somatic		WXS	Illumina GAIIx	Phase_I	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649714	0.67358	.	.	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000539845	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.73885	0.3644	L	0.58101	1.795	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.59115	0.852;0.852	T	0.69292	-0.5183	9	0.33141	T	0.24	.	19.8478	0.96722	0.0:1.0:0.0:0.0	.	351;351	Q96A65;Q8TAR2	EXOC4_HUMAN;.	D	351;351;250	.	ENSP00000253861:A351D	A	+	2	0	EXOC4	132710166	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.459000	0.66685	2.788000	0.95919	0.557000	0.71058	GCT		0.433	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1		NM_021807	
FSCB	84075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	44975908	44975908	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr14:44975908C>T	ENST00000340446.4	-	1	574	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	95						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.E95K(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GACTTTTCTTCAGGTACCACG	0.398																																																	1	Substitution - Missense(1)	kidney(1)											199.0	193.0	195.0					14																	44975908		2203	4300	6503	SO:0001583	missense	84075			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.283G>A	14.37:g.44975908C>T	ENSP00000344579:p.Glu95Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752147	0.31046	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.13089	2.62	5.26	1.4	0.22301	.	.	.	.	.	T	0.12220	0.0297	L	0.55481	1.735	0.09310	N	1	P	0.38335	0.627	B	0.32211	0.142	T	0.13710	-1.0499	9	0.72032	D	0.01	-0.2052	8.2865	0.31932	0.0:0.6634:0.0:0.3366	.	95	Q5H9T9	FSCB_HUMAN	K	95	ENSP00000344579:E95K	ENSP00000344579:E95K	E	-	1	0	FSCB	44045658	0.822000	0.29219	0.052000	0.19188	0.675000	0.39556	0.783000	0.26802	0.328000	0.23435	0.561000	0.74099	GAA		0.398	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1		NM_032135	
HSD17B8	7923	broad.mit.edu;hgsc.bcm.edu	37	6	33173664	33173664	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr6:33173664A>G	ENST00000374662.3	+	6	653	c.626A>G	c.(625-627)aAa>aGa	p.K209R	MIR219-1_ENST00000362166.1_RNA|RING1_ENST00000374656.4_5'Flank|HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	209					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|fatty acid biosynthetic process (GO:0006633)	mitochondrial envelope (GO:0005740)|mitochondrial matrix (GO:0005759)|plasma membrane (GO:0005886)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)	p.K209R(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						ATGACACAGAAAGTGCCACAG	0.542																																																	1	Substitution - Missense(1)	kidney(1)											115.0	112.0	113.0					6																	33173664		1508	2709	4217	SO:0001583	missense	7923			D82061	CCDS4769.1	6p21.3	2011-09-14	2002-02-19	2002-02-22	ENSG00000204228	ENSG00000204228	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	3554	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 30C, member 1"""	601417	"""FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)"""	FABGL		8812499, 19027726	Standard	NM_014234		Approved	HKE6, D6S2245E, RING2, KE6, H2-KE6, SDR30C1	uc003odi.2	Q92506	OTTHUMG00000031117	ENST00000374662.3:c.626A>G	6.37:g.33173664A>G	ENSP00000363794:p.Lys209Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLX7|Q5STP7|Q9UIQ1	Missense_Mutation	SNP	ENST00000374662.3	37	CCDS4769.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.900323	0.33535	.	.	ENSG00000204228	ENST00000374662	D	0.87966	-2.32	4.92	4.92	0.64577	NAD(P)-binding domain (1);	0.052318	0.64402	D	0.000001	T	0.59514	0.2199	N	0.08118	0	0.44771	D	0.997772	B	0.10296	0.003	B	0.08055	0.003	T	0.58741	-0.7583	10	0.18276	T	0.48	.	12.5005	0.55952	1.0:0.0:0.0:0.0	.	209	Q92506	DHB8_HUMAN	R	209	ENSP00000363794:K209R	ENSP00000363794:K209R	K	+	2	0	HSD17B8	33281642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.264000	0.65513	1.849000	0.53698	0.519000	0.50382	AAA		0.542	HSD17B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076196.1		NM_014234	
LILRA6	79168	hgsc.bcm.edu	37	19	54744772	54744772	+	Missense_Mutation	SNP	T	T	G	rs77717986		TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr19:54744772T>G	ENST00000396365.2	-	5	929	c.890A>C	c.(889-891)tAt>tCt	p.Y297S	LILRA6_ENST00000419410.2_Missense_Mutation_p.Y297S|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.Y297S|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Missense_Mutation_p.Y297S	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	297	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGTGCACCATAGCACCTGTA	0.682																																																	0													57.0	71.0	67.0					19																	54744772		2203	4300	6503	SO:0001583	missense	79168			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.890A>C	19.37:g.54744772T>G	ENSP00000379651:p.Tyr297Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	T	3.313	-0.140376	0.06669	.	.	ENSG00000244482	ENST00000440558;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	2.1	2.1	0.27182	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.228496	0.22643	N	0.057421	T	0.24509	0.0594	M	0.68728	2.09	0.58432	D	0.999998	P;D;P;P	0.89917	0.674;1.0;0.63;0.674	P;D;P;B	0.91635	0.651;0.999;0.495;0.344	T	0.01266	-1.1401	10	0.48119	T	0.1	.	6.2058	0.20602	0.0:0.0:0.0:1.0	.	297;297;297;297	C9JFH3;Q6PI73;F8WCY4;D3YTC4	.;LIRA6_HUMAN;.;.	S	297	ENSP00000390120:Y297S;ENSP00000411227:Y297S;ENSP00000379651:Y297S;ENSP00000245621:Y297S	ENSP00000245621:Y297S	Y	-	2	0	LILRA6	59436584	0.024000	0.19004	0.735000	0.30896	0.045000	0.14185	0.527000	0.22987	1.233000	0.43693	0.136000	0.15936	TAT		0.682	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1		NM_024318	
LILRA6	79168	hgsc.bcm.edu	37	19	54744777	54744777	+	Silent	SNP	C	C	T			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr19:54744777C>T	ENST00000396365.2	-	5	924	c.885G>A	c.(883-885)agG>agA	p.R295R	LILRA6_ENST00000419410.2_Silent_p.R295R|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Silent_p.R295R|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Silent_p.R295R	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	295	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACCATAGCACCTGTACTGGC	0.677																																																	0													57.0	71.0	66.0					19																	54744777		2203	4300	6503	SO:0001819	synonymous_variant	79168			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.885G>A	19.37:g.54744777C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000396365.2	37	CCDS42610.1																																																																																				0.677	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1		NM_024318	
MKS1	54903	broad.mit.edu;hgsc.bcm.edu	37	17	56283522	56283522	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr17:56283522C>T	ENST00000393119.2	-	18	1672	c.1598G>A	c.(1597-1599)cGt>cAt	p.R533H	MKS1_ENST00000337050.7_Intron|MKS1_ENST00000313863.6_3'UTR|MKS1_ENST00000546108.1_Missense_Mutation_p.R330H|MKS1_ENST00000537529.2_Missense_Mutation_p.R523H	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	533					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.R533H(1)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCGGGCTCGACGGAAGGCCTC	0.612																																																	1	Substitution - Missense(1)	kidney(1)											31.0	35.0	34.0					17																	56283522		1898	4113	6011	SO:0001583	missense	54903			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1598G>A	17.37:g.56283522C>T	ENSP00000376827:p.Arg533His	Somatic		WXS	Illumina HiSeq	Phase_I	B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672395	0.29693	.	.	ENSG00000011143	ENST00000537529;ENST00000393119;ENST00000546108	T;T;T	0.73789	-0.33;-0.32;-0.78	5.35	-8.57	0.00900	.	0.520353	0.22475	N	0.059578	T	0.51329	0.1668	N	0.08118	0	0.22017	N	0.99942	B	0.09022	0.002	B	0.08055	0.003	T	0.03259	-1.1055	10	0.59425	D	0.04	-19.7431	19.8761	0.96870	0.0:0.1244:0.0:0.8756	.	533	Q9NXB0	MKS1_HUMAN	H	523;533;330	ENSP00000442096:R523H;ENSP00000376827:R533H;ENSP00000443012:R330H	ENSP00000376827:R533H	R	-	2	0	MKS1	53638521	0.934000	0.31675	0.005000	0.12908	0.752000	0.42762	0.339000	0.19875	-1.697000	0.01420	-1.223000	0.01593	CGT		0.612	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2		NM_017777	
MTDH	92140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	98703207	98703207	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr8:98703207C>G	ENST00000336273.3	+	6	1167	c.839C>G	c.(838-840)aCt>aGt	p.T280S	MTDH_ENST00000519934.1_Missense_Mutation_p.T257S	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	280					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)	p.T280S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			GAAAACCTCACTGTCAATGGA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											58.0	60.0	60.0					8																	98703207		2203	4300	6503	SO:0001583	missense	92140			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.839C>G	8.37:g.98703207C>G	ENSP00000338235:p.Thr280Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	CCDS6274.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.92|15.92	2.976101|2.976101	0.53720|0.53720	.|.	.|.	ENSG00000147649|ENSG00000147649	ENST00000522313|ENST00000336273;ENST00000519934	.|T;T	.|0.48522	.|0.83;0.81	6.01|6.01	5.13|5.13	0.70059|0.70059	.|.	.|0.230124	.|0.47852	.|D	.|0.000211	T|T	0.42787|0.42787	0.1218|0.1218	L|L	0.42245|0.42245	1.32|1.32	0.39487|0.39487	D|D	0.967976|0.967976	.|B	.|0.25235	.|0.121	.|B	.|0.26693	.|0.072	T|T	0.31586|0.31586	-0.9938|-0.9938	5|10	.|0.32370	.|T	.|0.25	-9.9098|-9.9098	15.6563|15.6563	0.77136|0.77136	0.0:0.8636:0.1364:0.0|0.0:0.8636:0.1364:0.0	.|.	.|280	.|Q86UE4	.|LYRIC_HUMAN	V|S	163|280;257	.|ENSP00000338235:T280S;ENSP00000428168:T257S	.|ENSP00000338235:T280S	L|T	+|+	1|2	2|0	MTDH|MTDH	98772383|98772383	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.748000|2.748000	0.47483|0.47483	1.528000|1.528000	0.49103|0.49103	0.650000|0.650000	0.86243|0.86243	CTG|ACT		0.383	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			
NT5C1B	93034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	18757590	18757590	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr2:18757590A>G	ENST00000359846.2	-	9	1446	c.1369T>C	c.(1369-1371)Tac>Cac	p.Y457H	NT5C1B_ENST00000304081.4_Missense_Mutation_p.Y397H|NT5C1B_ENST00000600945.1_Missense_Mutation_p.Y457H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.Y457H	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	457					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.Y457H(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GTGTCACAGTAAGCCATGTCT	0.448																																																	1	Substitution - Missense(1)	kidney(1)											106.0	96.0	99.0					2																	18757590		2203	4300	6503	SO:0001583	missense	93034			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1369T>C	2.37:g.18757590A>G	ENSP00000352904:p.Tyr457His	Somatic		WXS	Illumina HiSeq	Phase_I	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	CCDS33150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.76|13.76	2.332034|2.332034	0.41297|0.41297	.|.	.|.	ENSG00000185013|ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000418427|ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	.|D	.|0.89415	.|-2.51	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.257704	.|0.39909	.|N	.|0.001228	D|D	0.89921|0.89921	0.6855|0.6855	L|L	0.39633|0.39633	1.23|1.23	0.33922|0.33922	D|D	0.640957|0.640957	.|D;D;D;P;D;D;D;D	.|0.76494	.|0.995;0.995;0.997;0.467;0.999;0.994;0.995;0.998	.|D;D;D;B;D;D;D;D	.|0.72338	.|0.95;0.95;0.95;0.356;0.977;0.916;0.95;0.953	D|D	0.89338|0.89338	0.3652|0.3652	5|10	.|0.19590	.|T	.|0.45	-10.5471|-10.5471	10.1766|10.1766	0.42941|0.42941	0.9254:0.0:0.0746:0.0|0.9254:0.0:0.0746:0.0	.|.	.|440;474;397;440;399;397;457;457	.|E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.|.;.;.;.;.;.;5NT1B_HUMAN;.	S|H	111|457;399;397;457	.|ENSP00000412639:Y399H	.|ENSP00000305979:Y397H	L|Y	-|-	2|1	0|0	NT5C1B|NT5C1B-RDH14;NT5C1B	18621071|18621071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	4.867000|4.867000	0.63013|0.63013	2.189000|2.189000	0.69895|0.69895	0.533000|0.533000	0.62120|0.62120	TTA|TAC		0.448	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			
OSBPL7	114881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	45894652	45894652	+	Silent	SNP	G	G	A			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr17:45894652G>A	ENST00000007414.3	-	8	863	c.672C>T	c.(670-672)atC>atT	p.I224I	OSBPL7_ENST00000392507.3_Silent_p.I224I	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	224					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.I224I(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GGGCTGAGGGGATTCGGTGCA	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											52.0	52.0	52.0					17																	45894652		2203	4300	6503	SO:0001819	synonymous_variant	114881			AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.672C>T	17.37:g.45894652G>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DTT6|Q6PIV6	Silent	SNP	ENST00000007414.3	37	CCDS11515.1																																																																																				0.587	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1		NM_017731	
PCDHA2	56146	broad.mit.edu;hgsc.bcm.edu	37	5	140176057	140176057	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr5:140176057C>T	ENST00000526136.1	+	1	1508	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A503V|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A503V	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A503V(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGCGCGCGTTGTCGAGC	0.677																																																	2	Substitution - Missense(2)	kidney(2)											57.0	59.0	58.0					5																	140176057		2203	4299	6502	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1508C>T	5.37:g.140176057C>T	ENSP00000431748:p.Ala503Val	Somatic		WXS	Illumina HiSeq	Phase_I	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	16.98	3.272519	0.59649	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.54071	0.66;0.59;0.63	3.88	1.98	0.26296	Cadherin (4);Cadherin-like (1);	0.970408	0.08372	U	0.955891	T	0.51856	0.1699	N	0.20610	0.595	0.09310	N	1	P;P;P	0.52692	0.955;0.869;0.955	P;P;P	0.56398	0.461;0.797;0.461	T	0.46303	-0.9201	10	0.66056	D	0.02	.	9.4268	0.38586	0.0:0.8211:0.0:0.1789	.	503;503;503	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	V	503	ENSP00000430584:A503V;ENSP00000367372:A503V;ENSP00000431748:A503V	ENSP00000367372:A503V	A	+	2	0	PCDHA2	140156241	0.000000	0.05858	0.963000	0.40424	0.959000	0.62525	0.232000	0.17891	0.219000	0.20840	0.644000	0.83932	GCG		0.677	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3		NM_018905	
PIGU	128869	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33225754	33225754	+	Silent	SNP	C	C	T			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr20:33225754C>T	ENST00000374820.2	-	4	314	c.294G>A	c.(292-294)caG>caA	p.Q98Q	PIGU_ENST00000452740.2_Silent_p.Q118Q			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	118					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q118Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						CTGGGGCATACTGGTCCAGTT	0.403																																																	1	Substitution - coding silent(1)	kidney(1)											87.0	85.0	85.0					20																	33225754		2203	4300	6503	SO:0001819	synonymous_variant	128869			AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"""Phosphatidylinositol glycan anchor biosynthesis"""	15791	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	608528	"""CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1"", ""CDC91 cell division cycle 91-like 1 (S. cerevisiae)"""	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000374820.2:c.294G>A	20.37:g.33225754C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z489|Q8N2F2	Silent	SNP	ENST00000374820.2	37																																																																																					0.403	PIGU-201	KNOWN	basic	protein_coding	protein_coding			NM_080476	
POGZ	23126	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151380970	151380970	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr1:151380970G>T	ENST00000271715.2	-	14	2463	c.2149C>A	c.(2149-2151)Ccg>Acg	p.P717T	POGZ_ENST00000531094.1_Missense_Mutation_p.P655T|POGZ_ENST00000392723.1_Missense_Mutation_p.P664T|POGZ_ENST00000368863.2_Missense_Mutation_p.P622T|POGZ_ENST00000491586.1_Missense_Mutation_p.P673T|POGZ_ENST00000409503.1_Missense_Mutation_p.P708T|POGZ_ENST00000540984.1_Missense_Mutation_p.P79T|POGZ_ENST00000361398.3_Missense_Mutation_p.P664T	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	717					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P717T(1)|p.P673T(1)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGGTCAGCGGTGCTGCCTCC	0.567																																																	2	Substitution - Missense(2)	kidney(2)											67.0	68.0	68.0					1																	151380970		2203	4300	6503	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.2149C>A	1.37:g.151380970G>T	ENSP00000271715:p.Pro717Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934865	0.34189	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586;ENST00000529669	T;T;T;T;T;T;T;T;T	0.32023	5.82;5.85;5.82;5.79;5.83;5.83;1.88;5.32;1.47	5.07	3.17	0.36434	.	0.231004	0.31092	N	0.008274	T	0.07324	0.0185	N	0.19112	0.55	0.28012	N	0.93486	B;B;B;B;B;B	0.20988	0.012;0.012;0.05;0.05;0.02;0.012	B;B;B;B;B;B	0.26770	0.01;0.015;0.033;0.073;0.05;0.01	T	0.29181	-1.0020	10	0.33141	T	0.24	-5.3565	8.171	0.31254	0.0859:0.1578:0.7564:0.0	.	655;708;622;673;664;717	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	T	664;717;664;622;708;655;79;673;117	ENSP00000376484:P664T;ENSP00000271715:P717T;ENSP00000354467:P664T;ENSP00000357856:P622T;ENSP00000386836:P708T;ENSP00000431259:P655T;ENSP00000443547:P79T;ENSP00000418408:P673T;ENSP00000432295:P117T	ENSP00000271715:P717T	P	-	1	0	POGZ	149647594	1.000000	0.71417	0.644000	0.29465	0.955000	0.61496	4.284000	0.58983	0.706000	0.31912	0.655000	0.94253	CCG		0.567	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2		NM_207171	
PPP3CC	5533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	22370886	22370886	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr8:22370886T>G	ENST00000240139.5	+	6	1038	c.711T>G	c.(709-711)aaT>aaG	p.N237K	PPP3CC_ENST00000397775.3_Missense_Mutation_p.N237K|PPP3CC_ENST00000518852.1_Missense_Mutation_p.N237K|PPP3CC_ENST00000289963.8_Missense_Mutation_p.N237K	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	237					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.N237K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		ATTATGGCAATGAGAAGACCT	0.473																																																	1	Substitution - Missense(1)	kidney(1)											173.0	158.0	163.0					8																	22370886		2203	4300	6503	SO:0001583	missense	5533				CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.711T>G	8.37:g.22370886T>G	ENSP00000240139:p.Asn237Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP	ENST00000240139.5	37	CCDS34859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.684|6.684	0.494853|0.494853	0.12702|0.12702	.|.	.|.	ENSG00000120910|ENSG00000120910	ENST00000522034;ENST00000521651|ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775;ENST00000523620	.|T;T;T;T;T	.|0.05199	.|3.48;3.48;3.48;3.48;3.48	5.6|5.6	0.293|0.293	0.15742|0.15742	.|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	.|0.542173	.|0.19879	.|N	.|0.104006	T|T	0.04634|0.04634	0.0126|0.0126	L|L	0.28192|0.28192	0.835|0.835	0.29145|0.29145	N|N	0.878749|0.878749	.|B;B;B;B	.|0.10296	.|0.001;0.003;0.003;0.002	.|B;B;B;B	.|0.10450	.|0.002;0.003;0.005;0.002	T|T	0.27536|0.27536	-1.0071|-1.0071	5|10	.|0.38643	.|T	.|0.18	-5.2113|-5.2113	9.0761|9.0761	0.36522|0.36522	0.0:0.3167:0.0:0.6833|0.0:0.3167:0.0:0.6833	.|.	.|237;237;237;237	.|B4DRT5;P48454-2;P48454;G3V111	.|.;.;PP2BC_HUMAN;.	R|K	87;114|237;237;237;237;63	.|ENSP00000429379:N237K;ENSP00000240139:N237K;ENSP00000289963:N237K;ENSP00000380878:N237K;ENSP00000430555:N63K	.|ENSP00000240139:N237K	M|N	+|+	2|3	0|2	PPP3CC|PPP3CC	22426831|22426831	0.000000|0.000000	0.05858|0.05858	0.028000|0.028000	0.17463|0.17463	0.039000|0.039000	0.13416|0.13416	-0.302000|-0.302000	0.08221|0.08221	-0.166000|-0.166000	0.10890|0.10890	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.473	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1		NM_005605	
PRKAG1	5571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49396983	49396983	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr12:49396983T>G	ENST00000548065.1	-	11	1288	c.832A>C	c.(832-834)Aag>Cag	p.K278Q	PRKAG1_ENST00000552212.1_Missense_Mutation_p.K246Q|PRKAG1_ENST00000316299.5_Missense_Mutation_p.K287Q|PRKAG1_ENST00000547306.1_Missense_Mutation_p.K227Q|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.K194Q|RP11-386G11.5_ENST00000547395.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	278	CBS 4. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.K278Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	AGGTAGCACTTGAGAACACCC	0.502																																																	1	Substitution - Missense(1)	kidney(1)											382.0	369.0	374.0					12																	49396983		2203	4300	6503	SO:0001583	missense	5571			U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.832A>C	12.37:g.49396983T>G	ENSP00000447433:p.Lys278Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.524358	0.44969	.	.	ENSG00000181929	ENST00000548362;ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000551770;ENST00000551696	D;D;D;D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19	5.06	5.06	0.68205	Cystathionine beta-synthase, core (3);	0.051597	0.85682	D	0.000000	D	0.92260	0.7545	M	0.74647	2.275	0.50313	D	0.999865	P;P	0.45126	0.838;0.851	B;B	0.39562	0.298;0.303	D	0.92997	0.6420	10	0.62326	D	0.03	-13.0166	13.9432	0.64069	0.0:0.0:0.0:1.0	.	287;278	Q8N7V9;P54619	.;AAKG1_HUMAN	Q	43;194;227;287;278;246;198;172	ENSP00000446987:K43Q;ENSP00000378599:K194Q;ENSP00000448873:K227Q;ENSP00000323867:K287Q;ENSP00000447433:K278Q;ENSP00000448972:K246Q;ENSP00000449121:K198Q;ENSP00000447671:K172Q	ENSP00000323867:K287Q	K	-	1	0	PRKAG1	47683250	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.982000	0.70532	2.132000	0.65825	0.533000	0.62120	AAG		0.502	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1		NM_002733	
SF3B2	10992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65822560	65822560	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr11:65822560C>A	ENST00000322535.6	+	4	321	c.272C>A	c.(271-273)cCc>cAc	p.P91H	snoU13_ENST00000459530.1_RNA|SF3B2_ENST00000528302.1_Missense_Mutation_p.P91H	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	91	Poly-Pro.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.P91H(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCTGGAATTCCCATGCCACCA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											72.0	85.0	81.0					11																	65822560		2201	4295	6496	SO:0001583	missense	10992			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.272C>A	11.37:g.65822560C>A	ENSP00000318861:p.Pro91His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	CCDS31612.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.19|12.19	1.863779|1.863779	0.32884|0.32884	.|.	.|.	ENSG00000087365|ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000533595;ENST00000524627;ENST00000355456;ENST00000530322;ENST00000524475|ENST00000533421	.|.	.|.	.|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.114168|0.114168	0.64402|0.64402	D|D	0.000011|0.000011	T|T	0.53753|0.53753	0.1816|0.1816	N|N	0.19112|0.19112	0.55|0.55	0.46396|0.46396	D|D	0.999021|0.999021	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.83275|.	0.99;0.996|.	T|T	0.59107|0.59107	-0.7516|-0.7516	9|7	0.46703|0.66056	T|D	0.11|0.02	-14.2964|-14.2964	14.5124|14.5124	0.67797|0.67797	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	91;91|.	Q13435;E9PJ04|.	SF3B2_HUMAN;.|.	H|T	91;91;91;91;93;86;9|42	.|.	ENSP00000318861:P91H|ENSP00000434288:P42T	P|P	+|+	2|1	0|0	SF3B2|SF3B2	65579136|65579136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.892000|0.892000	0.51952|0.51952	3.790000|3.790000	0.55461|0.55461	2.489000|2.489000	0.83994|0.83994	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.537	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			
SHC2	25759	hgsc.bcm.edu	37	19	434718	434718	+	Silent	SNP	G	G	A	rs61749991	byFrequency	TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr19:434718G>A	ENST00000264554.6	-	8	1100	c.1101C>T	c.(1099-1101)gcC>gcT	p.A367A		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	367	CH1.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGTCGAGGGCCGTGAGGG	0.657													G|||	465	0.0928514	0.034	0.0504	5008	,	,		18293	0.1776		0.0199	False		,,,				2504	0.1902																0								G		79,3943		1,77,1933	22.0	29.0	27.0		1101	1.9	0.6	19	dbSNP_129	27	106,8214		0,106,4054	no	coding-synonymous	SHC2	NM_012435.2		1,183,5987	AA,AG,GG		1.274,1.9642,1.4989		367/583	434718	185,12157	2011	4160	6171	SO:0001819	synonymous_variant	25759			AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1101C>T	19.37:g.434718G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O60230|Q9NPL5|Q9UCX4	Silent	SNP	ENST00000264554.6	37	CCDS45891.1																																																																																				0.657	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			
SLC12A5	57468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44669098	44669098	+	Silent	SNP	C	C	T	rs200570265		TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr20:44669098C>T	ENST00000454036.2	+	7	817	c.768C>T	c.(766-768)taC>taT	p.Y256Y	SLC12A5_ENST00000372315.1_Silent_p.Y233Y|SLC12A5_ENST00000243964.3_Silent_p.Y233Y	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	256					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.Y233Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCGTGTTTACGGCACCTGTG	0.547																																																	1	Substitution - coding silent(1)	kidney(1)											362.0	278.0	306.0					20																	44669098		2203	4300	6503	SO:0001819	synonymous_variant	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.768C>T	20.37:g.44669098C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	CCDS46610.1																																																																																				0.547	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			
SOAT2	8435	hgsc.bcm.edu;ucsc.edu	37	12	53516966	53516966	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr12:53516966delT	ENST00000301466.3	+	13	1398	c.1338delT	c.(1336-1338)tatfs	p.Y446fs		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	446					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	GGTTCTTCTATCCCGTCATGC	0.592																																																	0													251.0	195.0	214.0					12																	53516966		2203	4300	6503	SO:0001589	frameshift_variant	8435			AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.1338delT	12.37:g.53516966delT	ENSP00000301466:p.Tyr446fs	Somatic		WXS	Illumina HiSeq	Phase_I	F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Frame_Shift_Del	DEL	ENST00000301466.3	37	CCDS8847.1																																																																																				0.592	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			
TAF1C	9013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	84215586	84215586	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr16:84215586G>A	ENST00000567759.1	-	8	982	c.800C>T	c.(799-801)cCt>cTt	p.P267L	TAF1C_ENST00000570117.1_5'UTR|TAF1C_ENST00000341690.6_Missense_Mutation_p.P200L|TAF1C_ENST00000541676.1_Missense_Mutation_p.P200L|TAF1C_ENST00000378541.4_Missense_Mutation_p.P267L|TAF1C_ENST00000566732.1_Missense_Mutation_p.P267L	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	267					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.P267L(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TTGCCGGACAGGTCCCTGGAG	0.562																																																	1	Substitution - Missense(1)	kidney(1)											101.0	90.0	93.0					16																	84215586		2200	4300	6500	SO:0001583	missense	9013			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.800C>T	16.37:g.84215586G>A	ENSP00000455265:p.Pro267Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394866	0.83011	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000537450	T;T;T	0.03441	3.93;3.93;3.93	4.28	4.28	0.50868	.	0.220856	0.29073	N	0.013231	T	0.14787	0.0357	M	0.70595	2.14	0.53688	D	0.999972	D;D;D;D	0.89917	0.979;1.0;1.0;1.0	P;D;D;D	0.91635	0.892;0.998;0.999;0.998	T	0.00849	-1.1541	10	0.33940	T	0.23	-9.4185	12.4336	0.55586	0.0:0.0:1.0:0.0	.	267;267;267;200	F5H7W6;Q15572-6;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	L	267;200;200;267	ENSP00000367802:P267L;ENSP00000437900:P200L;ENSP00000345305:P200L	ENSP00000345305:P200L	P	-	2	0	TAF1C	82773087	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.286000	0.51724	2.390000	0.81377	0.655000	0.94253	CCT		0.562	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2		NM_139353	
TRIM5	85363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5687233	5687233	+	Silent	SNP	T	T	C			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr11:5687233T>C	ENST00000380034.3	-	6	1102	c.846A>G	c.(844-846)aaA>aaG	p.K282K	TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Silent_p.K282K|TRIM5_ENST00000396853.4_Silent_p.K283K|TRIM5_ENST00000305836.5_Silent_p.K282K|TRIM5_ENST00000396847.3_Silent_p.K282K|TRIM5_ENST00000396855.3_Silent_p.K282K	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	282	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K282K(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CTAGCATTCCTTTCAGATCAG	0.403																																																	3	Substitution - coding silent(3)	kidney(3)											112.0	114.0	113.0					11																	5687233		2201	4297	6498	SO:0001819	synonymous_variant	85363			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.846A>G	11.37:g.5687233T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	ENST00000380034.3	37	CCDS31393.1																																																																																				0.403	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3		NM_033034	
UBE3C	9690	broad.mit.edu;hgsc.bcm.edu	37	7	156967613	156967613	+	Splice_Site	SNP	A	A	G			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr7:156967613A>G	ENST00000348165.5	+	5	703	c.343A>G	c.(343-345)Ata>Gta	p.I115V	UBE3C_ENST00000389103.4_Splice_Site_p.I72V	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	115					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I115V(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GCTGTTTCAGATATGGCTGTA	0.313																																																	1	Substitution - Missense(1)	kidney(1)											81.0	81.0	81.0					7																	156967613		2203	4300	6503	SO:0001630	splice_region_variant	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.343-1A>G	7.37:g.156967613A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.890313	0.33348	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.42131	0.98	5.97	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.37732	0.1014	L	0.56769	1.78	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.002;0.002;0.004	T	0.14200	-1.0481	9	.	.	.	.	10.7196	0.46032	0.868:0.0:0.132:0.0	.	115;115;72	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	V	115;72	ENSP00000309198:I115V	.	I	+	1	0	UBE3C	156660374	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.179000	0.65043	1.069000	0.40788	0.533000	0.62120	ATA		0.313	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1		NM_014671	Missense_Mutation
UGGT2	55757	hgsc.bcm.edu;ucsc.edu	37	13	96589247	96589247	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr13:96589247delT	ENST00000376747.3	-	17	1978	c.1908delA	c.(1906-1908)aaafs	p.K636fs		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	636					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTTTTAGTTCTTTAATATTCA	0.338																																																	0													85.0	90.0	88.0					13																	96589247		2203	4299	6502	SO:0001589	frameshift_variant	55757			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1908delA	13.37:g.96589247delT	ENSP00000365938:p.Lys636fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Frame_Shift_Del	DEL	ENST00000376747.3	37	CCDS9480.1																																																																																				0.338	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1		NM_020121	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188321	10188321	+	Splice_Site	SNP	G	G	T	rs5030814	byFrequency	TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr3:10188321G>T	ENST00000256474.2	+	2	1303		c.e2+1		VHL_ENST00000477538.1_Splice_Site|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(13)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ACACTGCCAGGTACTGACGTT	0.403		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	13	Unknown(13)	kidney(12)|endometrium(1)	GRCh37	CS004297|CS961708	VHL	S	rs5030814						166.0	158.0	161.0					3																	10188321		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.463+1G>T	3.37:g.10188321G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561929	0.65538	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4002	0.74834	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VHL	10163321	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.278000	0.78587	2.310000	0.77875	0.462000	0.41574	.		0.403	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	Intron
ZBTB38	253461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	141161609	141161609	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr3:141161609T>C	ENST00000514251.1	+	4	658	c.379T>C	c.(379-381)Ttc>Ctc	p.F127L	ZBTB38_ENST00000321464.5_Missense_Mutation_p.F128L|ZBTB38_ENST00000441582.2_Missense_Mutation_p.F127L					zinc finger and BTB domain containing 38									p.F127L(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TGATCGCAACTTCTCAAATTC	0.423																																																	1	Substitution - Missense(1)	kidney(1)											67.0	63.0	64.0					3																	141161609		1863	4105	5968	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.379T>C	3.37:g.141161609T>C	ENSP00000426387:p.Phe127Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000514251.1	37	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.903234	0.33628	.	.	ENSG00000177311	ENST00000509842;ENST00000509883;ENST00000514251;ENST00000510338;ENST00000441582;ENST00000321464;ENST00000510726	T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.27	4.11	0.48088	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (1);	0.419726	0.25922	N	0.027425	T	0.18341	0.0440	N	0.00347	-1.61	0.09310	N	1	P;P	0.35656	0.514;0.514	B;B	0.32090	0.14;0.14	T	0.04537	-1.0944	10	0.31617	T	0.26	-35.2562	6.6624	0.23022	0.1378:0.0751:0.0:0.7871	.	128;127	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	L	127;127;127;127;127;128;127	ENSP00000426931:F127L;ENSP00000424254:F127L;ENSP00000426387:F127L;ENSP00000425705:F127L;ENSP00000406955:F127L;ENSP00000372635:F128L;ENSP00000422081:F127L	ENSP00000372635:F128L	F	+	1	0	ZBTB38	142644299	1.000000	0.71417	0.996000	0.52242	0.680000	0.39746	2.049000	0.41288	2.116000	0.64780	0.482000	0.46254	TTC		0.423	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			
B3GNT3	10331	broad.mit.edu	37	19	17918663	17918663	+	Missense_Mutation	SNP	C	C	A	rs371779566		TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr19:17918663C>A	ENST00000318683.6	+	2	194	c.47C>A	c.(46-48)gCc>gAc	p.A16D	B3GNT3_ENST00000595387.1_Missense_Mutation_p.A16D	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	16					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)	p.A16D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CTCATTCTGGCCATCGGCGCT	0.672																																																	1	Substitution - Missense(1)	kidney(1)											32.0	32.0	32.0					19																	17918663		2203	4300	6503	SO:0001583	missense	10331			AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.47C>A	19.37:g.17918663C>A	ENSP00000321874:p.Ala16Asp	Somatic		WXS	Illumina GAIIx	Phase_I	B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848900	0.32699	.	.	ENSG00000179913	ENST00000318683	T	0.28666	1.6	3.36	-2.22	0.06952	.	1.642050	0.03685	U	0.246189	T	0.19446	0.0467	N	0.08118	0	0.09310	N	1	D	0.55385	0.971	P	0.46049	0.502	T	0.21109	-1.0255	10	0.45353	T	0.12	.	7.5743	0.27926	0.0:0.532:0.0:0.468	.	16	Q9Y2A9	B3GN3_HUMAN	D	16	ENSP00000321874:A16D	ENSP00000321874:A16D	A	+	2	0	B3GNT3	17779663	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.116000	0.03286	-0.248000	0.09583	0.478000	0.44815	GCC		0.672	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1		NM_014256	
DDN	23109	broad.mit.edu	37	12	49390707	49390707	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr12:49390707G>A	ENST00000421952.2	-	2	1973	c.1952C>T	c.(1951-1953)gCc>gTc	p.A651V	RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	651	Interaction with CD2AP and NPHS1. {ECO:0000250}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A597V(1)		NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CCGCCAGGAGGCGCCCGGGGC	0.627											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											21.0	19.0	19.0					12																	49390707		2202	4298	6500	SO:0001583	missense	23109			AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1952C>T	12.37:g.49390707G>A	ENSP00000390590:p.Ala651Val	Somatic	961	WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000421952.2	37	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621540	0.66787	.	.	ENSG00000181418	ENST00000421952	T	0.52983	0.64	4.55	4.55	0.56014	.	0.000000	0.45606	D	0.000350	T	0.39436	0.1078	L	0.32530	0.975	0.37622	D	0.921354	P	0.45957	0.869	B	0.42087	0.375	T	0.51601	-0.8685	10	0.87932	D	0	.	12.9839	0.58581	0.0:0.0:1.0:0.0	.	651	O94850	DEND_HUMAN	V	651	ENSP00000390590:A651V	ENSP00000390590:A651V	A	-	2	0	DDN	47676974	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	4.597000	0.61062	2.536000	0.85505	0.462000	0.41574	GCC		0.627	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			
INPP5J	27124	broad.mit.edu	37	22	31520974	31520974	+	Silent	SNP	A	A	T			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr22:31520974A>T	ENST00000331075.5	+	2	298	c.249A>T	c.(247-249)cgA>cgT	p.R83R	INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000404390.3_Intron|INPP5J_ENST00000405300.1_Intron|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000400294.2_Intron|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000412277.2_Silent_p.R16R	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	83					inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)	p.R83R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CATCTCCCCGACCAATCCTGG	0.622																																																	1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	27124			U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.249A>T	22.37:g.31520974A>T		Somatic		WXS	Illumina GAIIx	Phase_I	B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Silent	SNP	ENST00000331075.5	37																																																																																					0.622	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1		NM_001002837	
LOC728989	728989	broad.mit.edu	37	1	146494537	146494537	+	IGR	SNP	C	C	T	rs587682840	byFrequency	TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr1:146494537C>T								RP4-704D21.2 (19360 upstream) : RNVU1-8 (56757 downstream)																							TTGGCAGGGCCGCTCTCCAGA	0.567													.|||	9	0.00179712	0.0008	0.0	5008	,	,		22745	0.005		0.0	False		,,,				2504	0.0031																0																																										SO:0001628	intergenic_variant	728989																															1.37:g.146494537C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP		37																																																																																				0	0.567									
PROM1	8842	broad.mit.edu	37	4	16020105	16020105	+	Silent	SNP	G	G	A	rs374394451		TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr4:16020105G>A	ENST00000510224.1	-	9	1091	c.843C>T	c.(841-843)caC>caT	p.H281H	PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000540805.1_Silent_p.H281H|PROM1_ENST00000505450.1_Silent_p.H272H|PROM1_ENST00000508167.1_Silent_p.H272H|PROM1_ENST00000447510.2_Silent_p.H281H|PROM1_ENST00000543373.1_Silent_p.H272H|PROM1_ENST00000539194.1_Silent_p.H281H			O43490	PROM1_HUMAN	prominin 1	281					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)	p.H280H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TACTTTGTTGGTGCAAGCTCT	0.502																																																	1	Substitution - coding silent(1)	kidney(1)						G	,,,,,,	0,4176		0,0,2088	122.0	119.0	120.0		816,816,843,843,816,816,843	-10.8	0.0	4		120	2,8438		0,2,4218	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PROM1	NM_001145847.1,NM_001145848.1,NM_001145849.1,NM_001145850.1,NM_001145851.1,NM_001145852.1,NM_006017.2	,,,,,,	0,2,6306	AA,AG,GG		0.0237,0.0,0.0159	,,,,,,	272/857,272/857,281/843,281/835,272/834,272/826,281/866	16020105	2,12614	2088	4220	6308	SO:0001819	synonymous_variant	8842			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.843C>T	4.37:g.16020105G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Silent	SNP	ENST00000510224.1	37	CCDS47029.1																																																																																				0.502	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2		NM_006017	
TRIM28	10155	broad.mit.edu	37	19	59060112	59060112	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr19:59060112G>A	ENST00000253024.5	+	10	1618	c.1329G>A	c.(1327-1329)atG>atA	p.M443I	TRIM28_ENST00000341753.6_Missense_Mutation_p.M361I	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	443					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M443I(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CACAGCCCATGGAGGTGCAGG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											97.0	88.0	91.0					19																	59060112		2203	4300	6503	SO:0001583	missense	10155				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1329G>A	19.37:g.59060112G>A	ENSP00000253024:p.Met443Ile	Somatic		WXS	Illumina GAIIx	Phase_I	O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628926	0.28978	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.67523	-0.06;-0.27	5.12	5.12	0.69794	.	0.088072	0.51477	D	0.000095	T	0.52901	0.1763	N	0.22421	0.69	0.38277	D	0.942312	B;B;B	0.25809	0.135;0.001;0.043	B;B;B	0.25291	0.059;0.004;0.016	T	0.53872	-0.8377	10	0.37606	T	0.19	-38.0082	14.2646	0.66107	0.0:0.0:1.0:0.0	.	361;443;443	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	I	443;361	ENSP00000253024:M443I;ENSP00000342232:M361I	ENSP00000253024:M443I	M	+	3	0	TRIM28	63751924	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	4.365000	0.59486	2.837000	0.97791	0.655000	0.94253	ATG		0.617	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1		NM_005762	
