#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_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	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_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
GNE	10020	genome.wustl.edu	37	9	36217457	36217457	+	Missense_Mutation	SNP	G	G	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr9:36217457G>T	ENST00000539815.1	-	11	2114	c.2074C>A	c.(2074-2076)Cag>Aag	p.Q692K	GNE_ENST00000377902.5_Missense_Mutation_p.Q692K|GNE_ENST00000396594.3_Missense_Mutation_p.Q723K|GNE_ENST00000539208.1_Missense_Mutation_p.Q582K|GNE_ENST00000447283.2_Missense_Mutation_p.Q618K|GNE_ENST00000543356.2_Missense_Mutation_p.Q687K			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	692	N-acetylmannosamine kinase.				carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TCCACGTCCTGCACGGAGGAC	0.557																																					GBM(184;106 2118 20004 35750 50727)												0								ENSG00000159921						130.0	95.0	107.0					9																	36217457		2203	4300	6503	GNE	SO:0001583	missense	0			-	HGNC	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.2074C>A	9.37:g.36217457G>T	ENSP00000439155:p.Gln692Lys	Somatic	0	31	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase	p.Q723K	ENST00000539815.1	37	c.2167	CCDS6602.1	9	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858584	0.51376	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99503	-4.67;-4.67;-4.67;-4.67;-6.03	5.67	5.67	0.87782	.	0.211146	0.50627	D	0.000109	D	0.97651	0.9230	L	0.34521	1.04	0.51767	D	0.99993	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001	D	0.97868	1.0284	10	0.08599	T	0.76	-4.4291	17.2557	0.87056	0.0:0.0:1.0:0.0	.	582;651;723;692;618	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	K	692;723;687;692;664;582;618	ENSP00000367134:Q692K;ENSP00000379839:Q723K;ENSP00000439155:Q692K;ENSP00000445117:Q582K;ENSP00000414760:Q618K	ENSP00000340770:Q687K	Q	-	1	0	GNE	36207457	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.189000	0.58358	2.681000	0.91329	0.561000	0.74099	CAG	-	NULL		0.557	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GNE	protein_coding	OTTHUMT00000052412.4	G	NM_005476	-		36217457	-1	no_errors	ENST00000396594	ensembl	human	known	74_37	missense	SNP	1.000	T
SLC9A3	6550	genome.wustl.edu	37	5	475338	475355	+	Intron	DEL	GGAAAGTTAGGGTCACCG	GGAAAGTTAGGGTCACCG	-	rs527309103|rs371054000|rs56093108|rs200907923|rs2247107	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	GGAAAGTTAGGGTCACCG	GGAAAGTTAGGGTCACCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr5:475338_475355delGGAAAGTTAGGGTCACCG	ENST00000264938.3	-	16	2261				SLC9A3_ENST00000514375.1_Intron|CTD-2228K2.5_ENST00000510714.1_5'Flank|CTD-2228K2.5_ENST00000510604.1_5'Flank|CTD-2228K2.5_ENST00000342584.3_5'Flank|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3						ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGGGTGCCTTGGAAAGTTAGGGTCACCGGGAAGGTTAG	0.633														966	0.192891	0.1687	0.2349	5008	,	,		16601	0.1339		0.2634	False		,,,				2504	0.184																0								ENSG00000225138																																			CTD-2228K2.7	SO:0001627	intron_variant	0				Clone_based_vega_gene		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.2252-91CGGTGACCCTAACTTTCC>-	5.37:g.475338_475355delGGAAAGTTAGGGTCACCG		Somatic	NA	NA	NA		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B7ZKR2|E9PF67|Q3MIW3	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000264938.3	37	NULL	CCDS3855.1	5																																																																																			-	-		0.633	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100288152	protein_coding	OTTHUMT00000206677.2	GGAAAGTTAGGGTCACCG	NM_004174			475355	+1	no_errors	ENST00000607286	ensembl	human	known	74_37	rna	DEL	0.005:0.003:0.004:0.003:0.002:0.001:0.001:0.000:0.000:0.000:0.000:0.001:0.002:0.002:0.003:0.010:0.018:0.018	-
ZNF503	84858	genome.wustl.edu	37	10	77158854	77158854	+	Missense_Mutation	SNP	A	A	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr10:77158854A>T	ENST00000372524.4	-	2	2080	c.1594T>A	c.(1594-1596)Tcc>Acc	p.S532T	ZNF503_ENST00000535216.1_Missense_Mutation_p.S532T|ZNF503-AS2_ENST00000466942.2_RNA|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	532					G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					AGCTCTTCGGACGTGGCGAAG	0.642																																																	0								ENSG00000165655						32.0	30.0	31.0					10																	77158854		2203	4300	6503	ZNF503	SO:0001583	missense	0			-	HGNC	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.1594T>A	10.37:g.77158854A>T	ENSP00000361602:p.Ser532Thr	Somatic	0	12	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	12	42.86	Q8NAC5|Q96E25|Q96IJ0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2	p.S532T	ENST00000372524.4	37	c.1594	CCDS7350.1	10	.	.	.	.	.	.	.	.	.	.	A	19.63	3.862937	0.71949	.	.	ENSG00000165655	ENST00000372524;ENST00000535216;ENST00000372516	T;T	0.70749	-0.51;-0.51	4.23	4.23	0.50019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79969	0.4538	L	0.58101	1.795	0.80722	D	1	D	0.58268	0.982	D	0.67548	0.952	T	0.82392	-0.0480	10	0.87932	D	0	-19.4971	13.5198	0.61561	1.0:0.0:0.0:0.0	.	532	Q96F45	ZN503_HUMAN	T	532;532;495	ENSP00000361602:S532T;ENSP00000438988:S532T	ENSP00000361594:S495T	S	-	1	0	ZNF503	76828860	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.023000	0.93683	1.777000	0.52277	0.523000	0.50628	TCC	-	pfscan_Znf_C2H2		0.642	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF503	protein_coding	OTTHUMT00000048826.1	A	NM_032772	-		77158854	-1	no_errors	ENST00000372524	ensembl	human	known	74_37	missense	SNP	1.000	T
SLCO2B1	11309	genome.wustl.edu	37	11	74880267	74880267	+	Silent	SNP	G	G	T	rs147147496	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr11:74880267G>T	ENST00000289575.5	+	5	893	c.498G>T	c.(496-498)tcG>tcT	p.S166S	SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000532236.1_Silent_p.S50S|SLCO2B1_ENST00000428359.2_Silent_p.S144S|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000525650.1_Silent_p.S22S|SLCO2B1_ENST00000526660.1_Intron	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	166					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCACAACCTCGGCCCCAGCCT	0.517																																																	0								ENSG00000137491						50.0	51.0	50.0					11																	74880267		2200	4293	6493	SLCO2B1	SO:0001819	synonymous_variant	0			-	HGNC	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.498G>T	11.37:g.74880267G>T		Somatic	0	39	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.S166	ENST00000289575.5	37	c.498	CCDS8235.1	11																																																																																			-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.517	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLCO2B1	protein_coding	OTTHUMT00000383933.1	G	NM_007256	-		74880267	+1	no_errors	ENST00000289575	ensembl	human	known	74_37	silent	SNP	0.000	T
KIAA0020	9933	genome.wustl.edu	37	9	2828769	2828769	+	Missense_Mutation	SNP	G	G	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr9:2828769G>T	ENST00000397885.2	-	9	1068	c.862C>A	c.(862-864)Cac>Aac	p.H288N	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	288	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		AGAGTTCGGTGATCTGCTGAC	0.323																																																	0								ENSG00000080608						126.0	117.0	120.0					9																	2828769		2201	4300	6501	KIAA0020	SO:0001583	missense	0			-	HGNC	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.862C>A	9.37:g.2828769G>T	ENSP00000380982:p.His288Asn	Somatic	0	42	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.H288N	ENST00000397885.2	37	c.862	CCDS6448.2	9	.	.	.	.	.	.	.	.	.	.	G	7.966	0.747937	0.15710	.	.	ENSG00000080608	ENST00000397885	T	0.07688	3.17	5.72	4.81	0.61882	Armadillo-like helical (1);Armadillo-type fold (1);	0.467337	0.27696	N	0.018224	T	0.06234	0.0161	L	0.27053	0.805	0.30463	N	0.774128	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14980	-1.0453	10	0.14252	T	0.57	-36.0464	12.2193	0.54425	0.0708:0.131:0.7982:0.0	.	148;288	B2RDG4;Q15397	.;K0020_HUMAN	N	288	ENSP00000380982:H288N	ENSP00000380982:H288N	H	-	1	0	KIAA0020	2818769	1.000000	0.71417	0.993000	0.49108	0.472000	0.32918	1.987000	0.40687	2.857000	0.98124	0.650000	0.86243	CAC	-	superfamily_ARM-type_fold,pfscan_Pumilio_RNA-bd_rpt		0.323	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	protein_coding	OTTHUMT00000051529.3	G	NM_014878	-		2828769	-1	no_errors	ENST00000397885	ensembl	human	known	74_37	missense	SNP	0.962	T
TXK	7294	genome.wustl.edu	37	4	48097218	48097218	+	Missense_Mutation	SNP	C	C	A			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr4:48097218C>A	ENST00000264316.4	-	7	608	c.523G>T	c.(523-525)Gtc>Ttc	p.V175F	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	175	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GAATCTCTGACAATAAATGCA	0.338																																																	0								ENSG00000074966						115.0	111.0	112.0					4																	48097218		2203	4300	6503	TXK	SO:0001583	missense	0			-	HGNC	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.523G>T	4.37:g.48097218C>A	ENSP00000264316:p.Val175Phe	Somatic	0	62	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	61	26.51	Q14220	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.V175F	ENST00000264316.4	37	c.523	CCDS3480.1	4	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814437	0.90790	.	.	ENSG00000074966	ENST00000264316	D	0.95980	-3.87	5.23	5.23	0.72850	SH2 motif (5);	0.000000	0.64402	D	0.000004	D	0.98403	0.9469	H	0.94264	3.515	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.99331	1.0909	10	0.87932	D	0	.	17.965	0.89098	0.0:1.0:0.0:0.0	.	175	P42681	TXK_HUMAN	F	175	ENSP00000264316:V175F	ENSP00000264316:V175F	V	-	1	0	TXK	47791975	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.405000	0.52630	2.725000	0.93324	0.585000	0.79938	GTC	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.338	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	protein_coding	OTTHUMT00000219869.7	C	NM_003328	-		48097218	-1	no_errors	ENST00000264316	ensembl	human	known	74_37	missense	SNP	1.000	A
DCHS1	8642	genome.wustl.edu	37	11	6662746	6662748	+	In_Frame_Del	DEL	CAG	CAG	-	rs370785084|rs372916982		TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr11:6662746_6662748delCAG	ENST00000299441.3	-	2	508_510	c.97_99delCTG	c.(97-99)ctgdel	p.L33del		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAGCCCCcagcagcagcagc	0.635																																																	1	Insertion - In frame(1)	prostate(1)						ENSG00000166341			54,415,3471		8,0,38,73,269,1582						5.3	1.0		dbSNP_130	8	588,630,6394		117,13,341,89,439,2807	no	codingComplex	DCHS1	NM_003737.2		125,13,379,162,708,4389	A1A1,A1A2,A1R,A2A2,A2R,RR		16.0011,11.9036,14.6035				642,1045,9865				DCHS1	SO:0001651	inframe_deletion	0				HGNC	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.97_99delCTG	11.37:g.6662755_6662757delCAG	ENSP00000299441:p.Leu33del	Somatic	0	54	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	38	13.64	O15098	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L33in_frame_del	ENST00000299441.3	37	c.99_97	CCDS7771.1	11																																																																																			-	NULL		0.635	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	protein_coding	OTTHUMT00000257258.1	CAG	NM_003737			6662748	-1	no_errors	ENST00000299441	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-
PLEKHG5	57449	genome.wustl.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr1:6536011_6536013delCTC	ENST00000400915.3	-	4	361_363	c.295_297delGAG	c.(295-297)gagdel	p.E99del	PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377748.1_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99	Poly-Glu.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000171680																																			PLEKHG5	SO:0001651	inframe_deletion	0				HGNC	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.295_297delGAG	1.37:g.6536020_6536022delCTC	ENSP00000383706:p.Glu99del	Somatic	0	57	0.00	634	0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E122in_frame_del	ENST00000400915.3	37	c.366_364	CCDS41241.1	1																																																																																			-	NULL		0.631	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	protein_coding	OTTHUMT00000002631.1	CTC	NM_020631			6536013	-1	no_errors	ENST00000537245	ensembl	human	known	74_37	in_frame_del	DEL	0.215:0.814:0.826	-
SCARA3	51435	genome.wustl.edu	37	8	27516968	27516968	+	Silent	SNP	C	C	T	rs373786095		TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr8:27516968C>T	ENST00000301904.3	+	5	1301	c.1281C>T	c.(1279-1281)aaC>aaT	p.N427N	SCARA3_ENST00000337221.4_Silent_p.N427N	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	427					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		TGGACCTCAACGTCCGGAACC	0.572																																																	0								ENSG00000168077	C	,	1,4405	2.1+/-5.4	0,1,2202	52.0	43.0	46.0		1281,1281	-2.6	0.7	8		46	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SCARA3	NM_016240.2,NM_182826.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	427/607,427/467	27516968	1,13005	2203	4300	6503	SCARA3	SO:0001819	synonymous_variant	0			-	HGNC	AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.1281C>T	8.37:g.27516968C>T		Somatic	0	31	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	Q9UM15|Q9UM16	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Collagen	p.N427	ENST00000301904.3	37	c.1281	CCDS34871.1	8																																																																																			-	NULL		0.572	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARA3	protein_coding	OTTHUMT00000376258.2	C	NM_016240	-		27516968	+1	no_errors	ENST00000301904	ensembl	human	known	74_37	silent	SNP	0.616	T
DPH2	1802	genome.wustl.edu	37	1	44436462	44436462	+	Intron	SNP	A	A	G			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr1:44436462A>G	ENST00000255108.3	+	2	432				DPH2_ENST00000529729.1_Intron|DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Intron	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				ATTGCCTTCAATGGTGGTGTT	0.478																																																	0								ENSG00000132768																																			DPH2	SO:0001627	intron_variant	0			-	HGNC	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.260+82A>G	1.37:g.44436462A>G		Somatic	0	15	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	7	36.36	A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.N97S	ENST00000255108.3	37	c.290	CCDS504.1	1																																																																																			-	NULL		0.478	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH2	protein_coding	OTTHUMT00000022832.1	A	NM_001384	-		44436462	+1	no_errors	ENST00000476260	ensembl	human	known	74_37	missense	SNP	0.000	G
GOLGA6L10	647042	genome.wustl.edu	37	15	82637615	82637615	+	Silent	SNP	A	A	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr15:82637615A>T	ENST00000439287.4	-	6	570	c.471T>A	c.(469-471)tcT>tcA	p.S157S		NM_001164465.1	NP_001157937.1	A6NI86	GG6LA_HUMAN	golgin A6 family-like 10	157										endometrium(1)|kidney(4)	5						GCTCCACCTTAGATGGCCCTG	0.488																																																	0								ENSG00000205281																																			GOLGA6L10	SO:0001819	synonymous_variant	0			-	Uniprot_gn		CCDS45325.1	15q25.2	2014-08-13	2010-02-12		ENSG00000278662				37228	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 10"", ""golgin A6 family-like 18"""	GOLGA6L18			Standard	XM_006720643		Approved		uc021ssn.1	A6NI86	OTTHUMG00000172580	ENST00000439287.4:c.471T>A	15.37:g.82637615A>T		Somatic	0	22	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	16	27.27		Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.S157	ENST00000439287.4	37	c.471	CCDS45325.1	15																																																																																			-	NULL		0.488	GOLGA6L10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927601	protein_coding	OTTHUMT00000419403.2	A	NM_001164465	-		82637615	-1	no_errors	ENST00000439287	ensembl	human	known	74_37	silent	SNP	0.083	T
RELN	5649	genome.wustl.edu	37	7	103629803	103629804	+	Start_Codon_Ins	INS	-	-	GCCGCC	rs587780434|rs55656324|rs536610894	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr7:103629803_103629804insGCCGCC	ENST00000428762.1	-	0	159_160				RELN_ENST00000343529.5_Start_Codon_Ins|RELN_ENST00000424685.2_Start_Codon_Ins	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCGCTCCATgccgccgccgc	0.723														3026	0.604233	0.469	0.5663	5008	,	,		7030	0.8185		0.4732	False		,,,				2504	0.728				NSCLC(146;835 1944 15585 22231 52158)												0								ENSG00000189056																																			RELN	SO:0001582	initiator_codon_variant	0				HGNC		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.-4_1dupGGCGGC	7.37:g.103629804_103629809dupGCCGCC		Somatic	NA	NA	NA		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.0in_frame_insGG	ENST00000428762.1	37	c.1_2	CCDS47680.1	7																																																																																			-	NULL		0.723	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	protein_coding	OTTHUMT00000348148.1	-	NM_005045			103629804	-1	no_errors	ENST00000424685	ensembl	human	known	74_37	in_frame_ins	INS	1.000:1.000	GCCGCC
SPTBN5	51332	genome.wustl.edu	37	15	42158701	42158701	+	Intron	SNP	G	G	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr15:42158701G>T	ENST00000320955.6	-	37	6708				MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTGGTGGGGGTGGGACATGA	0.662																																																	0								ENSG00000264850						24.0	25.0	24.0					15																	42158701		1953	4137	6090	MIR4310	SO:0001627	intron_variant	0			-	HGNC	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6481-10C>A	15.37:g.42158701G>T		Somatic	0	23	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000320955.6	37	NULL		15																																																																																			-	-		0.662	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	MIR4310	protein_coding	OTTHUMT00000420237.1	G	NM_016642	-		42158701	-1	no_errors	ENST00000582950	ensembl	human	known	74_37	rna	SNP	0.002	T
CORO1C	23603	genome.wustl.edu	37	12	109040818	109040818	+	3'UTR	DEL	A	A	-	rs34122937	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr12:109040818delA	ENST00000261401.3	-	0	1958				CORO1C_ENST00000549384.1_5'UTR|CORO1C_ENST00000541050.1_3'UTR	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C						actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						CCTATTCATTAAAAAAAAAAG	0.299													|||unknown(HR)	3427	0.684305	0.5	0.6772	5008	,	,		17979	0.9931		0.5268	False		,,,				2504	0.7822																0								ENSG00000110880																																			CORO1C	SO:0001624	3_prime_UTR_variant	0				HGNC	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.*361T>-	12.37:g.109040818delA		Somatic	0	13	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	A7MAP0|A7MAP1|B3KU12|Q9NSK5	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000261401.3	37	NULL	CCDS9120.1	12																																																																																			-	-		0.299	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1C	protein_coding	OTTHUMT00000403802.1	A	NM_014325			109040818	-1	no_errors	ENST00000549384	ensembl	human	known	74_37	rna	DEL	0.889	-
ZNF652	22834	genome.wustl.edu	37	17	47395063	47395063	+	Missense_Mutation	SNP	G	G	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr17:47395063G>T	ENST00000362063.2	-	2	343	c.25C>A	c.(25-27)Cag>Aag	p.Q9K	ZNF652_ENST00000430262.2_Missense_Mutation_p.Q9K	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			ACCAGCTCCTGACAAGAACTG	0.418																																																	0								ENSG00000198740						42.0	40.0	41.0					17																	47395063		2203	4300	6503	ZNF652	SO:0001583	missense	0			-	HGNC	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.25C>A	17.37:g.47395063G>T	ENSP00000354686:p.Gln9Lys	Somatic	0	57	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A4QPD9|Q5H9Q0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q9K	ENST00000362063.2	37	c.25	CCDS32677.1	17	.	.	.	.	.	.	.	.	.	.	G	9.827	1.187400	0.21870	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	D;D	0.98849	-5.18;-5.18	5.76	5.76	0.90799	.	0.215613	0.49305	D	0.000150	D	0.96027	0.8706	N	0.14661	0.345	0.42855	D	0.99409	B	0.02656	0.0	B	0.04013	0.001	D	0.91889	0.5522	10	0.54805	T	0.06	-6.7973	19.5764	0.95446	0.0:0.0:1.0:0.0	.	9	Q9Y2D9	ZN652_HUMAN	K	9	ENSP00000354686:Q9K;ENSP00000416305:Q9K	ENSP00000354686:Q9K	Q	-	1	0	ZNF652	44750062	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.900000	0.63252	2.726000	0.93360	0.655000	0.94253	CAG	-	NULL		0.418	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF652	protein_coding	OTTHUMT00000364524.1	G	NM_014897	-		47395063	-1	no_errors	ENST00000362063	ensembl	human	known	74_37	missense	SNP	1.000	T
MUC6	4588	genome.wustl.edu	37	11	1018390	1018390	+	Missense_Mutation	SNP	C	C	T	rs111785507		TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr11:1018390C>T	ENST00000421673.2	-	31	4461	c.4411G>A	c.(4411-4413)Gcc>Acc	p.A1471T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1471	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGATGTGGCCATCTGTGCG	0.577																																																	0								ENSG00000184956						250.0	244.0	246.0					11																	1018390		2188	4284	6472	MUC6	SO:0001583	missense	0			-	HGNC	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4411G>A	11.37:g.1018390C>T	ENSP00000406861:p.Ala1471Thr	Somatic	0	61	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	47	15.79	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.A1471T	ENST00000421673.2	37	c.4411	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	C	0.528	-0.859272	0.02610	.	.	ENSG00000184956	ENST00000421673	T	0.18338	2.22	2.69	-5.37	0.02681	.	.	.	.	.	T	0.06917	0.0176	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35968	-0.9767	9	0.22706	T	0.39	.	0.4328	0.00474	0.2134:0.2383:0.1724:0.3759	.	1471	Q6W4X9	MUC6_HUMAN	T	1471	ENSP00000406861:A1471T	ENSP00000406861:A1471T	A	-	1	0	MUC6	1008390	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.219000	0.00553	-1.874000	0.01133	-0.875000	0.02981	GCC	-	NULL		0.577	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	protein_coding	OTTHUMT00000382120.2	C	XM_290540	-		1018390	-1	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	SNP	0.000	T
FOXO3	2309	genome.wustl.edu	37	6	108882648	108882650	+	In_Frame_Del	DEL	CGG	CGG	-	rs372569038		TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	CGG	CGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr6:108882648_108882650delCGG	ENST00000343882.6	+	2	541_543	c.237_239delCGG	c.(235-240)atcggc>atc	p.G84del	FOXO3_ENST00000406360.1_In_Frame_Del_p.G84del	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	84					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCATGGCGATCGGCGGCGGCGGC	0.759																																																	0								ENSG00000118689																																			FOXO3	SO:0001651	inframe_deletion	0				HGNC	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.237_239delCGG	6.37:g.108882657_108882659delCGG	ENSP00000339527:p.Gly84del	Somatic	0	15	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	6	25.00	B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G83in_frame_del	ENST00000343882.6	37	c.237_239	CCDS5068.1	6																																																																																			-	NULL		0.759	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO3	protein_coding	OTTHUMT00000041722.2	CGG				108882650	+1	no_errors	ENST00000343882	ensembl	human	known	74_37	in_frame_del	DEL	0.964:0.974:0.982	-
FOXF2	2295	genome.wustl.edu	37	6	1391085	1391086	+	In_Frame_Ins	INS	-	-	GGC	rs58230522|rs147426137|rs147183226|rs111257067|rs397731476	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr6:1391085_1391086insGGC	ENST00000259806.1	+	1	1017_1018	c.903_904insGGC	c.(904-906)ggc>GGCggc	p.302_302G>GG		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	302	Poly-Gly.				embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		gtgcggccgggggcggcggcgg	0.748														1967	0.392772	0.3812	0.3429	5008	,	,		10454	0.497		0.3072	False		,,,				2504	0.4243																0								ENSG00000137273			240,298		113,14,142						-6.4	0.1		dbSNP_126	1	607,1133		267,73,530	no	coding	FOXF2	NM_001452.1		380,87,672	A1A1,A1R,RR		34.8851,44.6097,37.1817				847,1431				FOXF2	SO:0001652	inframe_insertion	0				HGNC	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.916_918dupGGC	6.37:g.1391092_1391094dupGGC	ENSP00000259806:p.Gly306dup	Somatic	0	9	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	Q5TGJ1|Q9UQ85	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.305in_frame_insG	ENST00000259806.1	37	c.903_904	CCDS4472.1	6																																																																																			-	NULL		0.748	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXF2	protein_coding	OTTHUMT00000043558.1	-				1391086	+1	no_errors	ENST00000259806	ensembl	human	known	74_37	in_frame_ins	INS	0.009:0.179	GGC
TGS1	96764	genome.wustl.edu	37	8	56737232	56737232	+	Silent	SNP	C	C	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr8:56737232C>T	ENST00000260129.5	+	13	3009	c.2532C>T	c.(2530-2532)gaC>gaT	p.D844D		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	844	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ATTTTGGTGACCTAATTCGAA	0.428																																					Esophageal Squamous(34;275 823 4842 34837 48447)												0								ENSG00000137574						124.0	107.0	113.0					8																	56737232		2203	4300	6503	TGS1	SO:0001819	synonymous_variant	0			-	HGNC	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2532C>T	8.37:g.56737232C>T		Somatic	0	106	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	48	44.83	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.D844	ENST00000260129.5	37	c.2532	CCDS34894.1	8																																																																																			-	pfam_RNA_cap_Gua-N2-MeTrfase		0.428	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGS1	protein_coding	OTTHUMT00000378152.1	C	NM_024831	-		56737232	+1	no_errors	ENST00000260129	ensembl	human	known	74_37	silent	SNP	1.000	T
KRT5	3852	genome.wustl.edu	37	12	52910467	52910467	+	Missense_Mutation	SNP	C	C	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr12:52910467C>T	ENST00000252242.4	-	7	1783	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	465	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGATCTCCACGTCCAGGGCC	0.602																																																	0								ENSG00000186081						131.0	116.0	121.0					12																	52910467		2203	4300	6503	KRT5	SO:0001583	missense	0			-	HGNC		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1393G>A	12.37:g.52910467C>T	ENSP00000252242:p.Val465Met	Somatic	0	39	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	33	15.38	Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.V465M	ENST00000252242.4	37	c.1393	CCDS8830.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.86|15.86	2.957592|2.957592	0.53400|0.53400	.|.	.|.	ENSG00000186081|ENSG00000186081	ENST00000548409|ENST00000252242;ENST00000456000	.|D	.|0.86230	.|-2.09	5.93|5.93	3.86|3.86	0.44501|0.44501	.|Filament (1);	.|0.157818	.|0.30969	.|N	.|0.008512	D|D	0.83778|0.83778	0.5328|0.5328	L|L	0.48986|0.48986	1.54|1.54	0.41772|0.41772	D|D	0.989772|0.989772	.|P	.|0.52170	.|0.951	.|P	.|0.49683	.|0.619	T|T	0.80286|0.80286	-0.1446|-0.1446	5|10	.|0.27785	.|T	.|0.31	.|.	4.5599|4.5599	0.12154|0.12154	0.0:0.5754:0.0:0.4246|0.0:0.5754:0.0:0.4246	.|.	.|465	.|P13647	.|K2C5_HUMAN	H|M	172|465;430	.|ENSP00000252242:V465M	.|ENSP00000252242:V465M	R|V	-|-	2|1	0|0	KRT5|KRT5	51196734|51196734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.413000|3.413000	0.52686|0.52686	1.482000|1.482000	0.48325|0.48325	0.655000|0.655000	0.94253|0.94253	CGT|GTG	-	pfam_IF		0.602	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT5	protein_coding	OTTHUMT00000405312.1	C		-		52910467	-1	no_errors	ENST00000252242	ensembl	human	known	74_37	missense	SNP	1.000	T
VPS8	23355	genome.wustl.edu	37	3	184647438	184647438	+	Missense_Mutation	SNP	G	G	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr3:184647438G>T	ENST00000437079.3	+	33	2956	c.2785G>T	c.(2785-2787)Gac>Tac	p.D929Y	VPS8_ENST00000436792.2_Missense_Mutation_p.D927Y|VPS8_ENST00000446204.2_Missense_Mutation_p.D837Y|VPS8_ENST00000287546.4_Missense_Mutation_p.D929Y|VPS8_ENST00000463687.1_3'UTR	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	929							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CTACTTACGTGACCCTCTGCG	0.328																																																	0								ENSG00000156931						83.0	78.0	79.0					3																	184647438		1841	4077	5918	VPS8	SO:0001583	missense	0			-	HGNC	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.2785G>T	3.37:g.184647438G>T	ENSP00000397879:p.Asp929Tyr	Somatic	0	47	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D929Y	ENST00000437079.3	37	c.2785	CCDS46971.1	3	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433527	0.83776	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.34667	1.45;1.45;1.45;1.35	5.53	5.53	0.82687	Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.64994	0.2649	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.68953	-0.5273	10	0.87932	D	0	-18.4701	19.0583	0.93076	0.0:0.0:1.0:0.0	.	929;837;927	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	Y	929;929;927;837	ENSP00000287546:D929Y;ENSP00000397879:D929Y;ENSP00000404704:D927Y;ENSP00000405483:D837Y	ENSP00000287546:D929Y	D	+	1	0	VPS8	186130132	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.815000	0.91973	2.594000	0.87642	0.563000	0.77884	GAC	-	superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold		0.328	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS8	protein_coding		G	NM_015303	-		184647438	+1	no_errors	ENST00000287546	ensembl	human	known	74_37	missense	SNP	1.000	T
SPTB	6710	genome.wustl.edu	37	14	65268039	65268039	+	Missense_Mutation	SNP	G	G	A			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr14:65268039G>A	ENST00000389721.5	-	6	759	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	SPTB_ENST00000556626.1_Missense_Mutation_p.R243C|SPTB_ENST00000542895.1_Missense_Mutation_p.R243C|SPTB_ENST00000389720.3_Missense_Mutation_p.R243C|SPTB_ENST00000389722.3_Missense_Mutation_p.R243C	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	243	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.R243C(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCAGCTGGCGCTCAGCCACA	0.607											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	central_nervous_system(1)						ENSG00000070182						81.0	62.0	69.0					14																	65268039		2203	4300	6503	SPTB	SO:0001583	missense	0			-	HGNC		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.727C>T	14.37:g.65268039G>A	ENSP00000374371:p.Arg243Cys	Somatic	0	33	0.00	1082	0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	Q15510|Q15519	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R243C	ENST00000389721.5	37	c.727	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852094	0.71719	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	5.34	3.3	0.37823	Calponin homology domain (5);	0.187852	0.44483	D	0.000444	T	0.69378	0.3104	M	0.85299	2.745	0.43824	D	0.996394	D;D	0.60160	0.974;0.987	P;P	0.51170	0.661;0.653	T	0.77611	-0.2523	10	0.87932	D	0	.	13.9403	0.64050	0.0:0.0:0.6869:0.3131	.	243;247	P11277;Q59FP5	SPTB1_HUMAN;.	C	247;243;243;243;243;243	ENSP00000374372:R243C;ENSP00000451752:R243C;ENSP00000374371:R243C;ENSP00000443882:R243C;ENSP00000374370:R243C	ENSP00000374370:R243C	R	-	1	0	SPTB	64337792	1.000000	0.71417	0.993000	0.49108	0.885000	0.51271	3.169000	0.50809	1.221000	0.43506	0.460000	0.39030	CGC	-	pirsf_Spectrin_bsu,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.607	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	protein_coding	OTTHUMT00000414080.1	G		-		65268039	-1	no_errors	ENST00000389722	ensembl	human	known	74_37	missense	SNP	1.000	A
CACHD1	57685	genome.wustl.edu	37	1	65157848	65157848	+	3'UTR	SNP	A	A	G			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr1:65157848A>G	ENST00000371073.2	+	0	4429				CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1						calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GAAACACAGGAGAAGTTTTCA	0.368																																																	0								ENSG00000158966																																			CACHD1	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.*604A>G	1.37:g.65157848A>G		Somatic	0	48	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	28	37.78	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000371073.2	37	NULL		1																																																																																			-	-		0.368	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	protein_coding		A	NM_020925	-		65157848	+1	no_errors	ENST00000470527	ensembl	human	known	74_37	rna	SNP	0.001	G
SCPEP1	59342	genome.wustl.edu	37	17	55062464	55062465	+	Intron	INS	-	-	GAAAA	rs34242828|rs397829366|rs3056052|rs573491470	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr17:55062464_55062465insGAAAA	ENST00000262288.3	+	3	280				RP5-1107A17.4_ENST00000572877.1_RNA|SCPEP1_ENST00000571898.1_Intron	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1						negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					agactctgtctgaaaagaaaag	0.475																																																	0								ENSG00000263120																																			RP5-1107A17.4	SO:0001627	intron_variant	0				Clone_based_vega_gene	AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.226-274->GAAAA	17.37:g.55062470_55062474dupGAAAA		Somatic	NA	NA	NA		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q96A94|Q9H3F0	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000262288.3	37	NULL	CCDS11593.1	17																																																																																			-	-		0.475	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000263120	protein_coding	OTTHUMT00000440622.1	-	NM_021626			55062465	+1	no_errors	ENST00000572877	ensembl	human	known	74_37	rna	INS	0.001:0.001	GAAAA
CYFIP2	26999	genome.wustl.edu	37	5	156751051	156751053	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr5:156751051_156751053delCTT	ENST00000521420.1	+	15	1807_1809	c.1716_1718delCTT	c.(1714-1719)tccttc>tcc	p.F575del	CYFIP2_ENST00000347377.6_In_Frame_Del_p.F601del|CYFIP2_ENST00000377576.3_In_Frame_Del_p.F601del|CYFIP2_ENST00000318218.6_In_Frame_Del_p.F626del|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_In_Frame_Del_p.F405del|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000541131.1_In_Frame_Del_p.F526del|CYFIP2_ENST00000435847.2_In_Frame_Del_p.F300del					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAAACAGTCCTTCTTCTTCACA	0.537																																																	0								ENSG00000055163																																			CYFIP2	SO:0001651	inframe_deletion	0				HGNC	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1716_1718delCTT	5.37:g.156751057_156751059delCTT	ENSP00000430904:p.Phe575del	Somatic	0	38	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74		In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.F626in_frame_del	ENST00000521420.1	37	c.1869_1871		5																																																																																			-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub		0.537	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	protein_coding	OTTHUMT00000373710.1	CTT	NM_001037332			156751053	+1	no_errors	ENST00000318218	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-
SMARCB1	6598	genome.wustl.edu	37	22	24176678	24176700	+	3'UTR	DEL	CAACAGGTCATGTTCAATTTCTT	CAACAGGTCATGTTCAATTTCTT	-	rs5030614	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	CAACAGGTCATGTTCAATTTCTT	CAACAGGTCATGTTCAATTTCTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr22:24176678_24176700delCAACAGGTCATGTTCAATTTCTT	ENST00000263121.7	+	0	1665_1687				DERL3_ENST00000464023.1_5'UTR|DERL3_ENST00000406855.3_3'UTR|SMARCB1_ENST00000407422.3_3'UTR|DERL3_ENST00000404056.1_3'UTR|SMARCB1_ENST00000344921.6_3'UTR	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1						ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)			bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				AAATAAAAGGCAACAGGTCATGTTCAATTTCTTCAACAGGTCA	0.435			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid								649	0.129593	0.1838	0.1282	5008	,	,		17370	0.0506		0.1471	False		,,,				2504	0.1207						yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""		M	0								ENSG00000099958																																			DERL3	SO:0001624	3_prime_UTR_variant	0				HGNC	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.*333CAACAGGTCATGTTCAATTTCTT>-	22.37:g.24176678_24176700delCAACAGGTCATGTTCAATTTCTT		Somatic	NA	NA	NA		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000263121.7	37	NULL	CCDS13817.1	22																																																																																			-	-		0.435	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DERL3	protein_coding	OTTHUMT00000319872.1	CAACAGGTCATGTTCAATTTCTT	NM_003073			24176700	-1	no_errors	ENST00000464023	ensembl	human	known	74_37	rna	DEL	0.881:0.744:0.541:0.169:0.191:0.247:0.273:0.214:0.004:0.003:0.003:0.004:0.017:0.025:0.031:0.034:0.036:0.045:0.051:0.010:0.016:0.016:0.010	-
MYBL1	4603	genome.wustl.edu	37	8	67511292	67511292	+	Missense_Mutation	SNP	T	T	C			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr8:67511292T>C	ENST00000522677.3	-	4	694	c.284A>G	c.(283-285)gAt>gGt	p.D95G	MYBL1_ENST00000517885.1_Missense_Mutation_p.D95G|MYBL1_ENST00000524176.2_Missense_Mutation_p.D95G	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	95	HTH myb-type 2. {ECO:0000255|PROSITE- ProRule:PRU00625}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TACCCTCTGATCTTCTTCTTT	0.328																																																	0								ENSG00000185697						73.0	70.0	71.0					8																	67511292		1903	4165	6068	MYBL1	SO:0001583	missense	0			-	HGNC	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.284A>G	8.37:g.67511292T>C	ENSP00000429633:p.Asp95Gly	Somatic	0	70	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	41	33.87	E7EW29|Q495F9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.D95G	ENST00000522677.3	37	c.284	CCDS47867.1	8	.	.	.	.	.	.	.	.	.	.	T	27.8	4.864811	0.91511	.	.	ENSG00000185697	ENST00000522677;ENST00000517885;ENST00000524176	T;T;T	0.50277	1.17;1.6;0.75	5.54	5.54	0.83059	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.83142	0.5190	H	0.99764	4.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90986	0.4831	10	0.87932	D	0	-16.394	15.6764	0.77326	0.0:0.0:0.0:1.0	.	95;95;95	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	G	95	ENSP00000429633:D95G;ENSP00000428265:D95G;ENSP00000428011:D95G	ENSP00000428265:D95G	D	-	2	0	MYBL1	67673846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.004000	0.88535	2.106000	0.64143	0.528000	0.53228	GAT	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom		0.328	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBL1	protein_coding	OTTHUMT00000379221.3	T	XM_034274	-		67511292	-1	no_errors	ENST00000522677	ensembl	human	known	74_37	missense	SNP	1.000	C
LHFPL3	375612	genome.wustl.edu	37	7	103969325	103969325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr7:103969325C>A	ENST00000401970.2	+	1	178	c.56C>A	c.(55-57)tCg>tAg	p.S19*	LHFPL3_ENST00000535008.1_Nonsense_Mutation_p.S33*|LHFPL3_ENST00000424859.1_Nonsense_Mutation_p.S19*|LHFPL3_ENST00000543266.1_Nonsense_Mutation_p.S33*			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	33						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						GTGCGGAACTCGCGGGCCATC	0.667																																																	0								ENSG00000187416						62.0	73.0	70.0					7																	103969325		2201	4300	6501	LHFPL3	SO:0001587	stop_gained	0			-	HGNC	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.56C>A	7.37:g.103969325C>A	ENSP00000385374:p.Ser19*	Somatic	0	32	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A1L383|A4D0Q5	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Lipome_HGMIC_fus_partner-like	p.S33*	ENST00000401970.2	37	c.98		7	.	.	.	.	.	.	.	.	.	.	C	39	7.634185	0.98403	.	.	ENSG00000187416	ENST00000424859;ENST00000535008;ENST00000401970;ENST00000543266	.	.	.	4.56	3.67	0.42095	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-28.5549	11.6517	0.51292	0.0:0.9113:0.0:0.0887	.	.	.	.	X	19;33;19;33	.	ENSP00000385374:S19X	S	+	2	0	LHFPL3	103756561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.773000	0.68898	2.064000	0.61679	0.563000	0.77884	TCG	-	NULL		0.667	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	LHFPL3	protein_coding	OTTHUMT00000348284.1	C	NM_199000	-		103969325	+1	no_errors	ENST00000535008	ensembl	human	known	74_37	nonsense	SNP	1.000	A
FBXO42	54455	genome.wustl.edu	37	1	16577255	16577255	+	Silent	SNP	G	G	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr1:16577255G>T	ENST00000375592.3	-	10	2280	c.2064C>A	c.(2062-2064)ctC>ctA	p.L688L		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	688										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CAAATATGATGAGTTCACCCC	0.438																																																	0								ENSG00000037637						177.0	168.0	171.0					1																	16577255		2203	4300	6503	FBXO42	SO:0001819	synonymous_variant	0			-	HGNC	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.2064C>A	1.37:g.16577255G>T		Somatic	0	45	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.L688	ENST00000375592.3	37	c.2064	CCDS30613.1	1																																																																																			-	NULL		0.438	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	protein_coding	OTTHUMT00000006285.1	G		-		16577255	-1	no_errors	ENST00000375592	ensembl	human	known	74_37	silent	SNP	1.000	T
TAF1L	138474	genome.wustl.edu	37	9	32635503	32635503	+	Silent	SNP	G	G	A			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr9:32635503G>A	ENST00000242310.4	-	1	164	c.75C>T	c.(73-75)agC>agT	p.S25S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	25					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AATCTTCCTCGCTGTCCGAGT	0.562																																																	0								ENSG00000122728						78.0	73.0	74.0					9																	32635503		2203	4300	6503	TAF1L	SO:0001819	synonymous_variant	0			-	HGNC	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.75C>T	9.37:g.32635503G>A		Somatic	0	73	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	73	19.78	Q0VG57	Silent	SNP	NA	NA	NA	NA	NA	NA	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.S25	ENST00000242310.4	37	c.75	CCDS35003.1	9																																																																																			-	pirsf_TAF1_animal,pfam_TAF_II_230-bd		0.562	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	protein_coding	OTTHUMT00000052012.2	G		-		32635503	-1	no_errors	ENST00000242310	ensembl	human	known	74_37	silent	SNP	1.000	A
ME3	10873	genome.wustl.edu	37	11	86160930	86160930	+	Splice_Site	SNP	C	C	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr11:86160930C>T	ENST00000393324.3	-	9	1385		c.e9+1		ME3_ENST00000543262.1_Splice_Site|ME3_ENST00000359636.2_Splice_Site|RP11-317J19.1_ENST00000524610.1_RNA	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial						aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				ACTGACAGTACCTTGACAATG	0.507																																																	0								ENSG00000151376						165.0	154.0	158.0					11																	86160930		2202	4299	6501	ME3	SO:0001630	splice_region_variant	0			-	HGNC	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1131+1G>A	11.37:g.86160930C>T		Somatic	0	34	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	17	43.33	B7Z6V0|Q8TBJ0	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e9+1	ENST00000393324.3	37	c.1131+1	CCDS8277.1	11	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470689	0.84533	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	.	.	.	5.7	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4023	0.67056	0.0:0.9294:0.0:0.0706	.	.	.	.	.	-1	.	.	.	-	.	.	ME3	85838578	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.707000	0.84623	1.416000	0.47057	0.650000	0.86243	.	-	-		0.507	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME3	protein_coding	OTTHUMT00000393767.2	C		-	Intron	86160930	-1	no_errors	ENST00000359636	ensembl	human	known	74_37	splice_site	SNP	1.000	T
IBA57	200205	genome.wustl.edu	37	1	228362561	228362561	+	Silent	SNP	C	C	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr1:228362561C>T	ENST00000366711.3	+	2	512	c.510C>T	c.(508-510)tgC>tgT	p.C170C	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_5'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	170					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CTGAGGCCTGCGGGGCTGCAT	0.687																																																	0								ENSG00000181873						21.0	22.0	21.0					1																	228362561		2193	4292	6485	IBA57	SO:0001819	synonymous_variant	0			-	HGNC	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.510C>T	1.37:g.228362561C>T		Somatic	0	26	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GCV_T_N,pfam_GCV_T_C,tigrfam_YgfZ/GcvT_CS	p.C170	ENST00000366711.3	37	c.510	CCDS31046.1	1																																																																																			-	pfam_GCV_T_N		0.687	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBA57	protein_coding	OTTHUMT00000095980.1	C	NM_001010867	-		228362561	+1	no_errors	ENST00000366711	ensembl	human	known	74_37	silent	SNP	0.000	T
MMP17	4326	genome.wustl.edu	37	12	132313098	132313099	+	In_Frame_Ins	INS	-	-	GCTGCCGCT	rs559842978|rs201578983|rs71072797	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr12:132313098_132313099insGCTGCCGCT	ENST00000360564.1	+	1	161_162	c.59_60insGCTGCCGCT	c.(58-63)cggctg>cgGCTGCCGCTgctg	p.21_22insPLL		NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	21					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	ggactctcgcggctgccgctgc	0.837														4777	0.953874	0.8797	0.9741	5008	,	,		2816	0.999		0.9702	False		,,,				2504	0.9765																0								ENSG00000198598																																			MMP17	SO:0001652	inframe_insertion	0				HGNC	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.60_68dupGCTGCCGCT	12.37:g.132313099_132313107dupGCTGCCGCT	ENSP00000353767:p.Leu21_Pro22insProLeuLeu	Somatic	NA	NA	NA		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q14850	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.24in_frame_insLPL	ENST00000360564.1	37	c.59_60	CCDS31927.1	12																																																																																			-	pirsf_Pept_M10A_Metazoans		0.837	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP17	protein_coding	OTTHUMT00000397757.1	-	NM_016155			132313099	+1	no_errors	ENST00000360564	ensembl	human	known	74_37	in_frame_ins	INS	0.023:0.052	GCTGCCGCT
PRSS37	136242	genome.wustl.edu	37	7	141537712	141537712	+	Missense_Mutation	SNP	C	C	A			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr7:141537712C>A	ENST00000350549.3	-	3	749	c.378G>T	c.(376-378)agG>agT	p.R126S	PRSS37_ENST00000438520.1_Missense_Mutation_p.R126S	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	126	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						CAGTGCCTGGCCTGACATTGG	0.537																																																	0								ENSG00000165076						176.0	151.0	160.0					7																	141537712		2203	4300	6503	PRSS37	SO:0001583	missense	0			-	HGNC		CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"""Serine peptidases / Serine peptidases"""	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.378G>T	7.37:g.141537712C>A	ENSP00000297767:p.Arg126Ser	Somatic	0	41	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B2RPB5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R126S	ENST00000350549.3	37	c.378	CCDS34764.1	7	.	.	.	.	.	.	.	.	.	.	C	0.150	-1.092248	0.01858	.	.	ENSG00000165076	ENST00000350549;ENST00000438520	D;D	0.88124	-2.34;-2.34	5.65	-2.03	0.07365	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.886480	0.02406	N	0.081181	T	0.69522	0.3120	N	0.08118	0	0.20489	N	0.999899	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.61763	-0.6996	10	0.09338	T	0.73	.	3.1755	0.06567	0.4309:0.3304:0.1055:0.1332	.	126;126	B7ZMK3;A4D1T9	.;PRS37_HUMAN	S	126	ENSP00000297767:R126S;ENSP00000414461:R126S	ENSP00000297767:R126S	R	-	3	2	PRSS37	141184181	0.000000	0.05858	0.062000	0.19696	0.007000	0.05969	-0.475000	0.06599	-0.054000	0.13266	-0.897000	0.02905	AGG	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.537	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS37	protein_coding	OTTHUMT00000347763.1	C	NM_001008270	-		141537712	-1	no_errors	ENST00000350549	ensembl	human	known	74_37	missense	SNP	0.000	A
EXOSC5	56915	genome.wustl.edu	37	19	41893449	41893449	+	Silent	SNP	G	G	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr19:41893449G>T	ENST00000221233.4	-	5	735	c.585C>A	c.(583-585)tcC>tcA	p.S195S	EXOSC5_ENST00000596905.1_Silent_p.S157S|CTC-435M10.3_ENST00000540732.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	195					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CCTTGGTGCTGGACATCAGCA	0.597																																																	0								ENSG00000077348						74.0	43.0	53.0					19																	41893449		2203	4300	6503	EXOSC5	SO:0001819	synonymous_variant	0			-	HGNC	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.585C>A	19.37:g.41893449G>T		Somatic	0	38	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	Q32Q81|Q8NG16|Q96I89	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.S195	ENST00000221233.4	37	c.585	CCDS12580.1	19																																																																																			-	pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2		0.597	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC5	protein_coding	OTTHUMT00000463492.1	G	NM_020158	-		41893449	-1	no_errors	ENST00000221233	ensembl	human	known	74_37	silent	SNP	0.949	T
SLC7A14	57709	genome.wustl.edu	37	3	170204083	170204083	+	Silent	SNP	G	G	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr3:170204083G>T	ENST00000231706.5	-	5	1149	c.834C>A	c.(832-834)gcC>gcA	p.A278A	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	278					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGGGATTCTTGGCTTCCTCTC	0.517																																																	0								ENSG00000013293						353.0	258.0	290.0					3																	170204083		2203	4300	6503	SLC7A14	SO:0001819	synonymous_variant	0			-	HGNC	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.834C>A	3.37:g.170204083G>T		Somatic	0	31	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B3KV33|Q9HCF9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_AA-permease/SLC12A_dom	p.A278	ENST00000231706.5	37	c.834	CCDS33892.1	3																																																																																			-	pfam_AA-permease/SLC12A_dom		0.517	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	protein_coding	OTTHUMT00000352598.2	G	NM_020949	-		170204083	-1	no_errors	ENST00000231706	ensembl	human	known	74_37	silent	SNP	1.000	T
RAD50	10111	genome.wustl.edu	37	5	131927091	131927091	+	Missense_Mutation	SNP	A	A	G			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr5:131927091A>G	ENST00000265335.6	+	10	2015	c.1628A>G	c.(1627-1629)aAa>aGa	p.K543R	RAD50_ENST00000378823.3_Missense_Mutation_p.K404R			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	543					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGCTGACCAAAGACAAAGTA	0.378								Homologous recombination																																									0								ENSG00000113522						94.0	85.0	88.0					5																	131927091		2203	4300	6503	RAD50	SO:0001583	missense	0			-	HGNC	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1628A>G	5.37:g.131927091A>G	ENSP00000265335:p.Lys543Arg	Somatic	0	32	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes	p.K543R	ENST00000265335.6	37	c.1628	CCDS34233.1	5	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613771	0.46631	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.06687	3.27;3.51	5.96	3.3	0.37823	.	0.130558	0.64402	N	0.000002	T	0.06690	0.0171	N	0.25426	0.745	0.47511	D	0.999449	B	0.15473	0.013	B	0.15484	0.013	T	0.25398	-1.0133	10	0.42905	T	0.14	-22.5084	10.9665	0.47416	0.8549:0.0:0.1451:0.0	.	543	Q92878	RAD50_HUMAN	R	404;543	ENSP00000368100:K404R;ENSP00000265335:K543R	ENSP00000265335:K543R	K	+	2	0	RAD50	131954990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.327000	0.52045	1.094000	0.41399	0.533000	0.62120	AAA	-	superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes		0.378	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	protein_coding	OTTHUMT00000132566.5	A	NM_005732	-		131927091	+1	no_errors	ENST00000265335	ensembl	human	known	74_37	missense	SNP	1.000	G
WWC1	23286	genome.wustl.edu	37	5	167855148	167855148	+	Splice_Site	SNP	T	T	C			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr5:167855148T>C	ENST00000265293.4	+	12	2421		c.e12+2		WWC1_ENST00000521089.1_Splice_Site	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1						cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CGTGCAGAGGTAGGTGTCTGG	0.602																																																	0								ENSG00000113645						112.0	100.0	104.0					5																	167855148		2203	4300	6503	WWC1	SO:0001630	splice_region_variant	0			-	HGNC	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1919+2T>C	5.37:g.167855148T>C		Somatic	0	40	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	13	43.48	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e12+2	ENST00000265293.4	37	c.1919+2	CCDS4366.1	5	.	.	.	.	.	.	.	.	.	.	T	12.79	2.042281	0.35989	.	.	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000393895;ENST00000524228	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5569	0.61765	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	WWC1	167787726	1.000000	0.71417	0.995000	0.50966	0.306000	0.27790	7.170000	0.77587	1.801000	0.52704	0.533000	0.62120	.	-	-		0.602	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	protein_coding	OTTHUMT00000252791.2	T	NM_015238	-	Intron	167855148	+1	no_errors	ENST00000265293	ensembl	human	known	74_37	splice_site	SNP	1.000	C
IL6R	3570	genome.wustl.edu	37	1	154422415	154422415	+	Missense_Mutation	SNP	A	A	G			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr1:154422415A>G	ENST00000368485.3	+	8	1462	c.1025A>G	c.(1024-1026)aAt>aGt	p.N342S	IL6R_ENST00000344086.4_Missense_Mutation_p.N342S|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	342					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	GACGATGATAATATTCTCTTC	0.438																																																	0								ENSG00000160712						129.0	129.0	129.0					1																	154422415		2203	4300	6503	IL6R	SO:0001583	missense	0			-	HGNC	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1025A>G	1.37:g.154422415A>G	ENSP00000357470:p.Asn342Ser	Somatic	0	58	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N342S	ENST00000368485.3	37	c.1025	CCDS1067.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.984|1.984	-0.433414|-0.433414	0.04669|0.04669	.|.	.|.	ENSG00000160712|ENSG00000160712	ENST00000476006;ENST00000515190|ENST00000368485;ENST00000344086	.|T;T	.|0.17691	.|2.26;2.27	4.09|4.09	0.282|0.282	0.15692|0.15692	.|.	.|5.149600	.|0.00166	.|N	.|0.000001	T|T	0.03095|0.03095	0.0091|0.0091	L|L	0.41236|0.41236	1.265|1.265	0.09310|0.09310	N|N	1|1	.|B;B	.|0.14805	.|0.001;0.011	.|B;B	.|0.09377	.|0.004;0.003	T|T	0.16424|0.16424	-1.0403|-1.0403	5|10	.|0.02654	.|T	.|1	0.0042|0.0042	5.3845|5.3845	0.16211|0.16211	0.4406:0.3945:0.0:0.1648|0.4406:0.3945:0.0:0.1648	.|.	.|342;342	.|P08887-2;P08887	.|.;IL6RA_HUMAN	V|S	281;145|342	.|ENSP00000357470:N342S;ENSP00000340589:N342S	.|ENSP00000340589:N342S	I|N	+|+	1|2	0|0	IL6R|IL6R	152689039|152689039	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.309000|-0.309000	0.08145|0.08145	0.032000|0.032000	0.15435|0.15435	0.460000|0.460000	0.39030|0.39030	ATA|AAT	-	NULL		0.438	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL6R	protein_coding	OTTHUMT00000087911.1	A	NM_000565	-		154422415	+1	no_errors	ENST00000368485	ensembl	human	known	74_37	missense	SNP	0.000	G
FOXC1	2296	genome.wustl.edu	37	6	1612142	1612144	+	In_Frame_Del	DEL	GCG	GCG	-	rs373281258		TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	GCG	GCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr6:1612142_1612144delGCG	ENST00000380874.2	+	1	1462_1464	c.1462_1464delGCG	c.(1462-1464)gcgdel	p.A495del		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	495	Poly-Ala.				artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CTTGGCGAGCgcggcggcggcgg	0.709																																					Pancreas(133;719 1821 3197 26645 35015)												0								ENSG00000054598			60,2238		8,44,1097						0.0	0.6			5	176,4724		16,144,2290	no	coding	FOXC1	NM_001453.2		24,188,3387	A1A1,A1R,RR		3.5918,2.611,3.2787				236,6962				FOXC1	SO:0001651	inframe_deletion	0				HGNC	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1462_1464delGCG	6.37:g.1612151_1612153delGCG	ENSP00000370256:p.Ala495del	Somatic	0	26	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A491in_frame_del	ENST00000380874.2	37	c.1462_1464	CCDS4473.1	6																																																																																			-	NULL		0.709	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXC1	protein_coding	OTTHUMT00000043450.1	GCG				1612144	+1	no_errors	ENST00000380874	ensembl	human	known	74_37	in_frame_del	DEL	0.998:0.998:0.994	-
RNF126	55658	genome.wustl.edu	37	19	648399	648399	+	Missense_Mutation	SNP	G	G	C	rs146932907		TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr19:648399G>C	ENST00000292363.5	-	8	914	c.759C>G	c.(757-759)gaC>gaG	p.D253E		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		CGATGCAGCCGTCGTGGAACA	0.716																																																	0								ENSG00000070423						14.0	13.0	13.0					19																	648399		2169	4257	6426	RNF126	SO:0001583	missense	0			-	HGNC	BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.759C>G	19.37:g.648399G>C	ENSP00000292363:p.Asp253Glu	Somatic	0	14	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	5	50.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D253E	ENST00000292363.5	37	c.759	CCDS12039.1	19	.	.	.	.	.	.	.	.	.	.	-	13.24	2.177377	0.38413	.	.	ENSG00000070423	ENST00000292363;ENST00000340092	T	0.39997	1.05	3.92	-1.7	0.08159	.	0.060931	0.64402	U	0.000004	T	0.15739	0.0379	N	0.02120	-0.675	0.26098	N	0.980863	P;P	0.38745	0.645;0.616	B;B	0.41571	0.148;0.36	T	0.36866	-0.9730	10	0.22109	T	0.4	.	8.6292	0.33908	0.5201:0.0:0.4799:0.0	.	253;105	Q9BV68-2;Q9NPN4	.;.	E	253	ENSP00000292363:D253E	ENSP00000292363:D253E	D	-	3	2	RNF126	599399	0.015000	0.18098	0.973000	0.42090	0.772000	0.43724	-0.285000	0.08410	-0.032000	0.13758	-0.734000	0.03567	GAC	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.716	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF126	protein_coding	OTTHUMT00000452104.2	G	NM_017876	-		648399	-1	no_errors	ENST00000292363	ensembl	human	known	74_37	missense	SNP	0.992	C
ZNF114	163071	genome.wustl.edu	37	19	48783059	48783059	+	Start_Codon_SNP	SNP	G	G	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr19:48783059G>T	ENST00000595607.1	+	4	497	c.3G>T	c.(1-3)atG>atT	p.M1I	ZNF114_ENST00000600687.1_Start_Codon_SNP_p.M1I|ZNF114_ENST00000315849.1_Start_Codon_SNP_p.M1I|ZNF114_ENST00000597695.1_Intron			Q8NC26	ZN114_HUMAN	zinc finger protein 114	1					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TGACAAATATGTCCCAGGTAA	0.552																																																	0								ENSG00000178150						143.0	95.0	111.0					19																	48783059		2203	4300	6503	ZNF114	SO:0001582	initiator_codon_variant	0			-	HGNC	BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.3G>T	19.37:g.48783059G>T	ENSP00000469998:p.Met1Ile	Somatic	0	31	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	A8K6B0|Q08AQ6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M1I	ENST00000595607.1	37	c.3	CCDS12713.1	19	.	.	.	.	.	.	.	.	.	.	g	9.620	1.133541	0.21041	.	.	ENSG00000178150	ENST00000315849	T	0.00776	5.71	1.16	-0.00115	0.14035	Krueppel-associated box (1);	.	.	.	.	T	0.00666	0.0022	.	.	.	0.48830	D	0.999716	B	0.25007	0.116	B	0.17098	0.017	T	0.61028	-0.7145	8	0.48119	T	0.1	.	4.4497	0.11614	0.0:0.0:0.6194:0.3806	.	1	Q8NC26	ZN114_HUMAN	I	1	ENSP00000318898:M1I	ENSP00000318898:M1I	M	+	3	0	ZNF114	53474871	0.003000	0.15002	0.005000	0.12908	0.189000	0.23516	0.259000	0.18405	0.047000	0.15862	0.399000	0.26434	ATG	-	superfamily_Krueppel-associated_box		0.552	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF114	protein_coding	OTTHUMT00000465601.1	G	NM_153608	-	Missense_Mutation	48783059	+1	no_errors	ENST00000315849	ensembl	human	known	74_37	missense	SNP	0.006	T
SPTBN5	51332	genome.wustl.edu	37	15	42158730	42158730	+	Intron	SNP	G	G	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr15:42158730G>T	ENST00000320955.6	-	37	6708				MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ATGTTCTGCAGCCTCAGGCCC	0.662																																																	0								ENSG00000264850						13.0	14.0	13.0					15																	42158730		1950	4131	6081	MIR4310	SO:0001627	intron_variant	0			-	HGNC	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6481-39C>A	15.37:g.42158730G>T		Somatic	0	22	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000320955.6	37	NULL		15																																																																																			-	-		0.662	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	MIR4310	protein_coding	OTTHUMT00000420237.1	G	NM_016642	-		42158730	-1	no_errors	ENST00000582950	ensembl	human	known	74_37	rna	SNP	0.000	T
FBXO4	26272	genome.wustl.edu	37	5	41929978	41929978	+	Missense_Mutation	SNP	A	A	C			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr5:41929978A>C	ENST00000281623.3	+	3	661	c.605A>C	c.(604-606)gAa>gCa	p.E202A	FBXO4_ENST00000296812.2_Missense_Mutation_p.E202A|FBXO4_ENST00000509134.1_Missense_Mutation_p.E202A	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	202					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TCTTCAGAGGAACTTTGCCCA	0.398																																																	0								ENSG00000151876						249.0	232.0	238.0					5																	41929978		2203	4300	6503	FBXO4	SO:0001583	missense	0			-	HGNC	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.605A>C	5.37:g.41929978A>C	ENSP00000281623:p.Glu202Ala	Somatic	0	79	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	64	33.33	Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.E202A	ENST00000281623.3	37	c.605	CCDS3938.1	5	.	.	.	.	.	.	.	.	.	.	A	26.0	4.692945	0.88735	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	.	.	.	5.76	5.76	0.90799	.	0.095877	0.64402	D	0.000001	T	0.61813	0.2377	L	0.54323	1.7	0.80722	D	1	P;P;P	0.45348	0.682;0.856;0.787	B;B;P	0.46758	0.326;0.322;0.526	T	0.65664	-0.6113	9	0.66056	D	0.02	-12.3463	16.0663	0.80878	1.0:0.0:0.0:0.0	.	202;202;202	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	A	202	.	ENSP00000281623:E202A	E	+	2	0	FBXO4	41965735	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.554000	0.53720	2.196000	0.70406	0.533000	0.62120	GAA	-	NULL		0.398	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO4	protein_coding	OTTHUMT00000211614.1	A		-		41929978	+1	no_errors	ENST00000281623	ensembl	human	known	74_37	missense	SNP	1.000	C
PPP1R12B	4660	genome.wustl.edu	37	1	202407189	202407190	+	Intron	INS	-	-	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr1:202407189_202407190insT	ENST00000608999.1	+	10	1611				RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000480184.1_Frame_Shift_Ins_p.V499fs|PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000336894.4_Intron	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCCAAGGCAGTTTTTTTTTTC	0.391																																																	0								ENSG00000077157																																			PPP1R12B	SO:0001627	intron_variant	0				HGNC	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1458+37->T	1.37:g.202407199_202407199dupT		Somatic	0	30	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.F503fs	ENST00000608999.1	37	c.1495_1496	CCDS1426.1	1																																																																																			-	NULL		0.391	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	protein_coding	OTTHUMT00000099166.3	-	NM_032105			202407190	+1	no_errors	ENST00000480184	ensembl	human	novel	74_37	frame_shift_ins	INS	0.085:0.041	T
MAST2	23139	genome.wustl.edu	37	1	46501294	46501294	+	Silent	SNP	G	G	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr1:46501294G>T	ENST00000361297.2	+	29	5236	c.4953G>T	c.(4951-4953)ggG>ggT	p.G1651G	MAST2_ENST00000372009.2_Silent_p.G1461G	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCACCTCTGGGAAGCTGAGCA	0.607																																																	0								ENSG00000086015						48.0	52.0	51.0					1																	46501294		2003	4167	6170	MAST2	SO:0001819	synonymous_variant	0			-	HGNC	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.4953G>T	1.37:g.46501294G>T		Somatic	0	36	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.G1651	ENST00000361297.2	37	c.4953	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.721827	0.00700	.	.	ENSG00000086015	ENST00000432341	.	.	.	5.55	0.816	0.18768	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-3.6479	3.9442	0.09341	0.3692:0.182:0.4488:0.0	.	.	.	.	X	620	.	ENSP00000396690:E620X	E	+	1	0	MAST2	46273881	0.010000	0.17322	0.082000	0.20525	0.161000	0.22273	-0.317000	0.08060	0.533000	0.28675	0.556000	0.70494	GAA	-	NULL		0.607	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	protein_coding	OTTHUMT00000021977.1	G	NM_015112	-		46501294	+1	no_errors	ENST00000361297	ensembl	human	known	74_37	silent	SNP	0.009	T
MED14	9282	genome.wustl.edu	37	X	40585955	40585955	+	Intron	SNP	G	G	A			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chrX:40585955G>A	ENST00000324817.1	-	3	467					NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14						androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATAACATTCGAAAAGTTATT	0.284																																																	0								ENSG00000180182						23.0	22.0	23.0					X																	40585955		2199	4287	6486	MED14	SO:0001627	intron_variant	0			-	HGNC	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.348+42C>T	X.37:g.40585955G>A		Somatic	0	207	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	82	102	44.57	Q4KMR7|Q9UNB3	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000324817.1	37	NULL	CCDS14254.1	X																																																																																			-	-		0.284	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	protein_coding	OTTHUMT00000060692.1	G	NM_004229	-		40585955	-1	no_errors	ENST00000463072	ensembl	human	known	74_37	rna	SNP	0.000	A
AC024132.1	0	genome.wustl.edu	37	4	27209652	27209653	+	lincRNA	INS	-	-	GT	rs369240059|rs377005107	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr4:27209652_27209653insGT	ENST00000382007.1	-	0	1982_1983																											ATAAAGACTGAgtgtgtgtgtg	0.446																																																	0								ENSG00000205830																																			AC024132.1			0				Clone_based_vega_gene																													4.37:g.27209661_27209662dupGT		Somatic	0	25	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000382007.1	37	NULL		4																																																																																			-	-		0.446	AC024132.1-001	KNOWN	basic	lincRNA	ENSG00000205830	lincRNA	OTTHUMT00000319578.1	-				27209653	-1	no_errors	ENST00000382007	ensembl	human	known	74_37	rna	INS	0.000:0.000	GT
TBC1D31	93594	genome.wustl.edu	37	8	124132405	124132405	+	Missense_Mutation	SNP	T	T	C			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr8:124132405T>C	ENST00000287380.1	+	11	1637	c.1547T>C	c.(1546-1548)tTt>tCt	p.F516S	TBC1D31_ENST00000521676.1_Missense_Mutation_p.F393S|TBC1D31_ENST00000378080.2_Missense_Mutation_p.F411S|TBC1D31_ENST00000518805.1_Missense_Mutation_p.F149S|TBC1D31_ENST00000522420.1_Missense_Mutation_p.F411S|TBC1D31_ENST00000327098.5_Missense_Mutation_p.F516S|TBC1D31_ENST00000309336.3_Missense_Mutation_p.F516S	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	516	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										CTCATCTGTTTTGAAGTTATT	0.338																																																	0								ENSG00000156787						92.0	80.0	84.0					8																	124132405		2202	4298	6500	TBC1D31	SO:0001583	missense	0			-	HGNC	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1547T>C	8.37:g.124132405T>C	ENSP00000287380:p.Phe516Ser	Somatic	0	50	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	27	44.90	B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.F516S	ENST00000287380.1	37	c.1547	CCDS6338.1	8	.	.	.	.	.	.	.	.	.	.	T	27.1	4.804357	0.90623	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080;ENST00000518805	T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02	5.87	5.87	0.94306	Rab-GAP/TBC domain (2);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.65302	-0.6201	10	0.87932	D	0	-22.9665	16.2718	0.82624	0.0:0.0:0.0:1.0	.	516;411;516	B7ZL19;E7ERK7;Q96DN5	.;.;WDR67_HUMAN	S	516;516;516;411;393;411;149	ENSP00000287380:F516S;ENSP00000308358:F516S;ENSP00000312701:F516S;ENSP00000429334:F411S;ENSP00000430628:F393S;ENSP00000367320:F411S;ENSP00000429494:F149S	ENSP00000287380:F516S	F	+	2	0	WDR67	124201586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.963000	0.87922	2.239000	0.73571	0.528000	0.53228	TTT	-	pfam_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.338	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D31	protein_coding	OTTHUMT00000381721.1	T	NM_145647	-		124132405	+1	no_errors	ENST00000287380	ensembl	human	known	74_37	missense	SNP	1.000	C
LIF	3976	genome.wustl.edu	37	22	30642572	30642573	+	Intron	INS	-	-	G	rs547325082	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr22:30642572_30642573insG	ENST00000249075.3	-	1	175				LIF_ENST00000403987.3_Intron|RP1-102K2.8_ENST00000608354.1_RNA|RP1-102K2.8_ENST00000593843.1_RNA	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor						blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GTGTCTGCGGCGGGTGGGCGTC	0.772																																																	0								ENSG00000268812																																			RP1-102K2.8	SO:0001627	intron_variant	0				Clone_based_vega_gene		CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"""differentiation inhibitory activity"", ""differentiation-inducing factor"", ""hepatocyte-stimulating factor III"", ""cholinergic differentiation factor"", ""human interleukin in DA cells"""	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.19+92->C	22.37:g.30642575_30642575dupG		Somatic	0	47	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	B2RCW7|B5MC23|Q52LZ2	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000249075.3	37	NULL	CCDS13872.1	22																																																																																			-	-		0.772	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000268812	protein_coding	OTTHUMT00000320508.1	-	NM_002309			30642573	+1	no_errors	ENST00000593843	ensembl	human	known	74_37	rna	INS	0.129:0.123	G
ADAMTS18	170692	genome.wustl.edu	37	16	77469910	77469929	+	5'Flank	DEL	TGTGTGTGTGTGTGTGTGTG	TGTGTGTGTGTGTGTGTGTG	-	rs151208084|rs201776017|rs150986433|rs553776012|rs374132862|rs142079273	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	TGTGTGTGTGTGTGTGTGTG	TGTGTGTGTGTGTGTGTGTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr16:77469910_77469929delTGTGTGTGTGTGTGTGTGTG	ENST00000282849.5	-	0	0				AC025284.1_ENST00000401312.1_RNA|RP11-449J10.1_ENST00000564358.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18						eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGGGATAAGAtgtgtgtgtgtgtgtgtgtgtgtgtgtgtg	0.386																																																	0								ENSG00000216131																																			AC025284.1	SO:0001631	upstream_gene_variant	0				Clone_based_ensembl_gene	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619		16.37:g.77469910_77469929delTGTGTGTGTGTGTGTGTGTG	Exception_encountered	Somatic	NA	NA	NA		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q6P4R5|Q6ZWJ9	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000282849.5	37	NULL	CCDS10926.1	16																																																																																			-	-		0.386	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216131	protein_coding	OTTHUMT00000269037.1	TGTGTGTGTGTGTGTGTGTG				77469929	-1	no_errors	ENST00000401312	ensembl	human	novel	74_37	rna	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.001:0.002:0.004:0.004:0.006:0.006:0.005	-
CABP1	9478	genome.wustl.edu	37	12	121093630	121093635	+	Intron	DEL	GTGCGT	GTGCGT	-	rs74906883|rs200201544|rs10588566|rs112935060	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	GTGCGT	GTGCGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr12:121093630_121093635delGTGCGT	ENST00000316803.3	+	2	788				CABP1_ENST00000288616.3_Intron|CABP1_ENST00000453000.1_In_Frame_Del_p.AC7del|CABP1_ENST00000351200.2_Intron	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1						negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAgtgcgtgcgtgcgtgtgtgtgtgt	0.539																																																	0								ENSG00000157782																																			CABP1	SO:0001627	intron_variant	0				HGNC	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.655-4046GTGCGT>-	12.37:g.121093630_121093635delGTGCGT		Somatic	NA	NA	NA		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	O95663|Q8N6H5|Q9NZU8	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.AC7in_frame_del	ENST00000316803.3	37	c.17_22	CCDS31913.1	12																																																																																			-	NULL		0.539	CABP1-001	KNOWN	basic|CCDS	protein_coding	CABP1	protein_coding	OTTHUMT00000345822.1	GTGCGT	NM_001033677			121093635	+1	no_errors	ENST00000453000	ensembl	human	putative	74_37	in_frame_del	DEL	0.940:0.982:0.991:0.991:0.991:0.982	-
PDLIM5	10611	genome.wustl.edu	37	4	95506840	95506840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr4:95506840C>T	ENST00000317968.4	+	6	971	c.835C>T	c.(835-837)Cag>Tag	p.Q279*	PDLIM5_ENST00000318007.5_Nonsense_Mutation_p.Q156*|PDLIM5_ENST00000380180.3_Nonsense_Mutation_p.Q176*|PDLIM5_ENST00000450793.1_Nonsense_Mutation_p.Q176*|PDLIM5_ENST00000508216.1_Nonsense_Mutation_p.Q176*|PDLIM5_ENST00000538141.1_Nonsense_Mutation_p.Q156*|PDLIM5_ENST00000514743.1_Nonsense_Mutation_p.Q176*|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000542407.1_Nonsense_Mutation_p.Q157*|PDLIM5_ENST00000437932.1_Nonsense_Mutation_p.Q170*	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	279					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TGGAACAACTCAGTCTCGCTC	0.458																																																	0								ENSG00000163110						113.0	96.0	102.0					4																	95506840		2203	4300	6503	PDLIM5	SO:0001587	stop_gained	0			-	HGNC	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.835C>T	4.37:g.95506840C>T	ENSP00000321746:p.Gln279*	Somatic	0	21	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	41	25.45	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.Q279*	ENST00000317968.4	37	c.835	CCDS3641.1	4	.	.	.	.	.	.	.	.	.	.	C	40	7.917329	0.98560	.	.	ENSG00000163110	ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000508216;ENST00000514743	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.3287	0.94275	0.0:1.0:0.0:0.0	.	.	.	.	X	170;176;156;176;156;279;176;157;176;176	.	ENSP00000321746:Q279X	Q	+	1	0	PDLIM5	95725863	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.442000	0.80503	2.624000	0.88883	0.650000	0.86243	CAG	-	NULL		0.458	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM5	protein_coding	OTTHUMT00000253586.1	C		-		95506840	+1	no_errors	ENST00000317968	ensembl	human	known	74_37	nonsense	SNP	1.000	T
LHFPL3	375612	genome.wustl.edu	37	7	103969335	103969335	+	Silent	SNP	C	C	A			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr7:103969335C>A	ENST00000401970.2	+	1	188	c.66C>A	c.(64-66)atC>atA	p.I22I	LHFPL3_ENST00000535008.1_Silent_p.I36I|LHFPL3_ENST00000424859.1_Silent_p.I22I|LHFPL3_ENST00000543266.1_Silent_p.I36I			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	36						integral component of membrane (GO:0016021)		p.I36I(1)		kidney(1)|large_intestine(2)|lung(6)	9						CGCGGGCCATCGGCGTGCTGT	0.672																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000187416						65.0	78.0	74.0					7																	103969335		2201	4300	6501	LHFPL3	SO:0001819	synonymous_variant	0			-	HGNC	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.66C>A	7.37:g.103969335C>A		Somatic	0	32	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A1L383|A4D0Q5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Lipome_HGMIC_fus_partner-like	p.I36	ENST00000401970.2	37	c.108		7																																																																																			-	pfam_Lipome_HGMIC_fus_partner-like		0.672	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	LHFPL3	protein_coding	OTTHUMT00000348284.1	C	NM_199000	-		103969335	+1	no_errors	ENST00000535008	ensembl	human	known	74_37	silent	SNP	1.000	A
ABCB8	11194	genome.wustl.edu	37	7	150730556	150730556	+	Intron	SNP	T	T	A			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr7:150730556T>A	ENST00000297504.6	+	3	212				ABCB8_ENST00000477719.1_Intron|ABCB8_ENST00000477092.1_Intron|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000356058.4_Intron|ABCB8_ENST00000498578.1_Intron|ABCB8_ENST00000358849.4_Intron|ABCB8_ENST00000493338.1_Intron			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8						transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	AGAACAGCCCTGAGAAGGGCA	0.537																																																	0								ENSG00000197150																																			ABCB8	SO:0001627	intron_variant	0			-	HGNC	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.147-136T>A	7.37:g.150730556T>A		Somatic	0	16	0.00		0.6754644778199322	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	3	75.00	A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000297504.6	37	NULL		7																																																																																			-	-		0.537	ABCB8-003	KNOWN	basic	protein_coding	ABCB8	protein_coding	OTTHUMT00000351733.2	T	NM_007188	-		150730556	+1	no_errors	ENST00000466956	ensembl	human	known	74_37	rna	SNP	0.000	A
