#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACSF3	197322	genome.wustl.edu	37	16	89178629	89178629	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr16:89178629C>T	ENST00000317447.4	+	5	1329	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	ACSF3_ENST00000406948.3_Missense_Mutation_p.R318C|CTD-2555A7.3_ENST00000562782.1_RNA|ACSF3_ENST00000378345.4_Missense_Mutation_p.R53C	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	318					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GGATTTCTTGCGTGCAGTTTG	0.423																																						dbGAP											0													149.0	155.0	153.0					16																	89178629		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.952C>T	16.37:g.89178629C>T	ENSP00000320646:p.Arg318Cys		A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R318C	ENST00000317447.4	37	c.952	CCDS10974.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.78|13.78	2.338707|2.338707	0.41398|0.41398	.|.	.|.	ENSG00000176715|ENSG00000176715	ENST00000543676|ENST00000537895;ENST00000317447;ENST00000540697;ENST00000406948;ENST00000378345;ENST00000544543;ENST00000538340	.|T;T;T;T;T;T;T	.|0.56275	.|2.75;0.68;2.75;0.68;1.0;0.78;0.47	4.49|4.49	4.49|4.49	0.54785|0.54785	.|AMP-dependent synthetase/ligase (1);	.|0.174789	.|0.49916	.|D	.|0.000125	T|T	0.63628|0.63628	0.2527|0.2527	M|M	0.89534|0.89534	3.04|3.04	0.48511|0.48511	D|D	0.999662|0.999662	.|B	.|0.20164	.|0.042	.|B	.|0.22152	.|0.038	T|T	0.69285|0.69285	-0.5185|-0.5185	5|10	.|0.66056	.|D	.|0.02	-10.3346|-10.3346	17.2545|17.2545	0.87051|0.87051	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|318	.|Q4G176	.|ACSF3_HUMAN	V|C	65|53;318;53;318;53;53;93	.|ENSP00000439201:R53C;ENSP00000320646:R318C;ENSP00000445397:R53C;ENSP00000384627:R318C;ENSP00000367596:R53C;ENSP00000442781:R53C;ENSP00000445870:R93C	.|ENSP00000320646:R318C	A|R	+|+	2|1	0|0	ACSF3|ACSF3	87706130|87706130	1.000000|1.000000	0.71417|0.71417	0.886000|0.886000	0.34754|0.34754	0.025000|0.025000	0.11179|0.11179	5.189000|5.189000	0.65098|0.65098	2.066000|2.066000	0.61787|0.61787	0.558000|0.558000	0.71614|0.71614	GCG|CGT	ACSF3	-	pfam_AMP-dep_Synth/Lig	ENSG00000176715		0.423	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF3	HGNC	protein_coding	OTTHUMT00000269919.1	51	0.00	0	C	NM_174917		89178629	89178629	+1	no_errors	ENST00000317447	ensembl	human	known	69_37n	missense	19	34.48	10	SNP	0.992	T
ACTRT3	84517	genome.wustl.edu	37	3	169487258	169487258	+	Silent	SNP	G	G	T			TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr3:169487258G>T	ENST00000330368.2	-	1	425	c.51C>A	c.(49-51)atC>atA	p.I17I	RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	17						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											CGCCCGCCTTGATCATTCCCG	0.677																																						dbGAP											0													24.0	30.0	28.0					3																	169487258		2157	4259	6416	-	-	-	SO:0001819	synonymous_variant	0			AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.51C>A	3.37:g.169487258G>T			Q96IS0|Q96NJ0	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.I17	ENST00000330368.2	37	c.51	CCDS3206.1	3																																																																																			ACTRT3	-	pfam_Actin-like,smart_Actin-like	ENSG00000184378		0.677	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT3	HGNC	protein_coding	OTTHUMT00000467797.1	25	0.00	0	G	NM_032487		169487258	169487258	-1	no_errors	ENST00000330368	ensembl	human	known	69_37n	silent	13	27.78	5	SNP	1.000	T
CD93	22918	genome.wustl.edu	37	20	23066789	23066791	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	AGC	AGC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr20:23066789_23066791delAGC	ENST00000246006.4	-	1	186_188	c.39_41delGCT	c.(37-42)ctgctc>ctc	p.13_14LL>L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	13					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTGGGTcaggagcagcagcagca	0.709																																						dbGAP											0										4,187,3873		0,0,4,17,153,1858						-10.7	0.0			6	5,391,7426		0,0,5,22,347,3537	no	codingComplex	CD93	NM_012072.3		0,0,9,39,500,5395	A1A1,A1A2,A1R,A2A2,A2R,RR		5.0626,4.6998,4.9386				9,578,11299				-	-	-	SO:0001651	inframe_deletion	0			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.39_41delGCT	20.37:g.23066798_23066800delAGC	ENSP00000246006:p.Leu15del		O00274	In_Frame_Del	DEL	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_CD93/CD141,pfscan_EG-like_dom,pfscan_C-type_lectin	p.L15in_frame_del	ENST00000246006.4	37	c.41_39	CCDS13149.1	20																																																																																			CD93	-	pirsf_CD93/CD141	ENSG00000125810		0.709	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	HGNC	protein_coding	OTTHUMT00000078312.2	13	0.00	0	AGC	NM_012072		23066789	23066791	-1	no_errors	ENST00000246006	ensembl	human	known	69_37n	in_frame_del	7	30.00	3	DEL	0.176:0.289:0.517	-
CNTLN	54875	genome.wustl.edu	37	9	17466011	17466011	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr9:17466011G>T	ENST00000380647.3	+	22	3648	c.3564G>T	c.(3562-3564)aaG>aaT	p.K1188N	CNTLN_ENST00000262360.5_Missense_Mutation_p.K1188N|CNTLN_ENST00000425824.1_Missense_Mutation_p.K1188N			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1188					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GTTCCAACAAGAAGGTATCAA	0.308																																						dbGAP											0													86.0	78.0	81.0					9																	17466011		1823	4072	5895	-	-	-	SO:0001583	missense	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3564G>T	9.37:g.17466011G>T	ENSP00000370021:p.Lys1188Asn		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.K1188N	ENST00000380647.3	37	c.3564	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769359	0.69992	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.24723	1.84;1.84;2.12	5.74	5.74	0.90152	.	.	.	.	.	T	0.45377	0.1339	M	0.70275	2.135	0.38911	D	0.957544	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73708	0.981;0.974;0.981	T	0.34725	-0.9817	9	0.20519	T	0.43	.	10.9407	0.47273	0.1127:0.0:0.8873:0.0	.	1188;1188;1188	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	N	1188	ENSP00000370021:K1188N;ENSP00000392798:K1188N;ENSP00000262360:K1188N	ENSP00000262360:K1188N	K	+	3	2	CNTLN	17456011	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.403000	0.34612	2.714000	0.92807	0.650000	0.86243	AAG	CNTLN	-	NULL	ENSG00000044459		0.308	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	34	0.00	0	G	NM_017738		17466011	17466011	+1	no_errors	ENST00000380647	ensembl	human	known	69_37n	missense	41	16.33	8	SNP	1.000	T
CSTA	1475	genome.wustl.edu	37	3	122060396	122060396	+	Silent	SNP	C	C	T	rs569377469		TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr3:122060396C>T	ENST00000264474.3	+	3	328	c.279C>T	c.(277-279)gaC>gaT	p.D93D		NM_005213.3	NP_005204.1	P01040	CYTA_HUMAN	cystatin A (stefin A)	93					keratinocyte differentiation (GO:0030216)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|peptide cross-linking (GO:0018149)|single organismal cell-cell adhesion (GO:0016337)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		ACAAGGATGACGAGCTGACGG	0.393																																					Pancreas(26;157 1503 12440)	dbGAP											0													122.0	120.0	120.0					3																	122060396		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3011.1	3q21	2008-04-15			ENSG00000121552	ENSG00000121552			2481	protein-coding gene	gene with protein product		184600		STF1, STFA		1674139	Standard	NM_005213		Approved		uc003eex.3	P01040	OTTHUMG00000159488	ENST00000264474.3:c.279C>T	3.37:g.122060396C>T			Q6IB90	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Prot_inh_stefinA	p.D93	ENST00000264474.3	37	c.279	CCDS3011.1	3																																																																																			CSTA	-	smart_Prot_inh_cystat,prints_Prot_inh_stefinA	ENSG00000121552		0.393	CSTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTA	HGNC	protein_coding	OTTHUMT00000355751.1	79	0.00	0	C	NM_005213		122060396	122060396	+1	no_errors	ENST00000264474	ensembl	human	known	69_37n	silent	61	19.74	15	SNP	0.081	T
CTAGE9	643854	genome.wustl.edu	37	6	132030507	132030507	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr6:132030507G>A	ENST00000314099.8	-	1	1699	c.1651C>T	c.(1651-1653)Cct>Tct	p.P551S	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	551						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GGAAGCACAGGTGAGAGTCTG	0.532																																						dbGAP											0													1.0	1.0	1.0					6																	132030507		11	38	49	-	-	-	SO:0001583	missense	0				CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.1651C>T	6.37:g.132030507G>A	ENSP00000395587:p.Pro551Ser			Missense_Mutation	SNP	NULL	p.P551S	ENST00000314099.8	37	c.1651	CCDS47475.1	6	.	.	.	.	.	.	.	.	.	.	-	7.482	0.648930	0.14516	.	.	ENSG00000236761	ENST00000314099	T	0.32515	1.45	.	.	.	.	.	.	.	.	T	0.27454	0.0674	M	0.83603	2.65	0.09310	N	1	P	0.48998	0.918	P	0.51385	0.668	T	0.07009	-1.0795	6	0.33940	T	0.23	.	.	.	.	.	551	A4FU28	CTGE9_HUMAN	S	551	ENSP00000395587:P551S	ENSP00000395587:P551S	P	-	1	0	CTAGE9	132072200	1.000000	0.71417	.	.	.	.	3.555000	0.53727	.	.	.	.	CCT	CTAGE9	-	NULL	ENSG00000236761		0.532	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE9	HGNC	protein_coding	OTTHUMT00000109220.1	24	0.00	0	G	NM_001145659		132030507	132030507	-1	no_errors	ENST00000314099	ensembl	human	known	69_37n	missense	11	54.17	13	SNP	0.000	A
DDX11L1	100287102	genome.wustl.edu	37	1	13418	13418	+	RNA	SNP	G	G	A			TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr1:13418G>A	ENST00000456328.2	+	0	666					NR_046018.2|NR_051986.1				DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1																		CCACCACCCCGAGATCACATT	0.562																																						dbGAP											0																																										-	-	-			0			AM992871		1p36.33	2012-02-23	2012-02-23		ENSG00000223972	ENSG00000223972			37102	pseudogene	pseudogene			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 1"""			19476624	Standard	NR_046018		Approved		uc010nxq.1		OTTHUMG00000000961		1.37:g.13418G>A				RNA	SNP	-	NULL	ENST00000456328.2	37	NULL		1																																																																																			DDX11L1	-	-	ENSG00000223972		0.562	DDX11L1-002	KNOWN	basic	processed_transcript	DDX11L1	HGNC	pseudogene	OTTHUMT00000362751.1	16	0.00	0	G			13418	13418	+1	no_errors	ENST00000456328	ensembl	human	known	69_37n	rna	24	22.58	7	SNP	0.002	A
FLG	2312	genome.wustl.edu	37	1	152277093	152277093	+	Silent	SNP	C	C	T			TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr1:152277093C>T	ENST00000368799.1	-	3	10304	c.10269G>A	c.(10267-10269)agG>agA	p.R3423R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3423	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGCTGAGTGCCTGGAGCTGT	0.592									Ichthyosis																													dbGAP											0													206.0	217.0	214.0					1																	152277093		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10269G>A	1.37:g.152277093C>T			Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R3423	ENST00000368799.1	37	c.10269	CCDS30860.1	1																																																																																			FLG	-	NULL	ENSG00000143631		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	155	0.00	0	C	NM_002016		152277093	152277093	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	silent	138	24.18	44	SNP	0.000	T
GOLGA6L2	283685	genome.wustl.edu	37	15	23686010	23686011	+	In_Frame_Ins	INS	-	-	CTC			TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr15:23686010_23686011insCTC	ENST00000567107.1	-	8	1663_1664	c.1611_1612insGAG	c.(1609-1614)gagaag>gagGAGaag	p.537_538insE	GOLGA6L2_ENST00000312015.5_In_Frame_Ins_p.537_538insE|GOLGA6L2_ENST00000345070.5_In_Frame_Ins_p.264_265insE			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	537	Glu-rich.									breast(1)|endometrium(7)	8						tcccgcatcttctcctgccgcc	0.579																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.1609_1611dupGAG	15.37:g.23686011_23686013dupCTC	ENSP00000454407:p.Glu537_Glu537dup		A1L301	In_Frame_Ins	INS	prints_Tropomyosin	p.264in_frame_insE	ENST00000567107.1	37	c.793_792		15																																																																																			GOLGA6L2	-	NULL	ENSG00000174450		0.579	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	44	0.00	0	-	NM_182561		23686010	23686011	-1	no_errors	ENST00000345070	ensembl	human	known	69_37n	in_frame_ins	56	12.50	8	INS	0.002:0.005	CTC
GPR15	2838	genome.wustl.edu	37	3	98251078	98251078	+	Silent	SNP	G	G	A			TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr3:98251078G>A	ENST00000284311.3	+	1	336	c.201G>A	c.(199-201)ctG>ctA	p.L67L		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	67					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		GCCGAAGACTGATCGACATCT	0.483																																						dbGAP											0													81.0	78.0	79.0					3																	98251078		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.201G>A	3.37:g.98251078G>A			Q3MIL4|Q6ISN6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt	p.L67	ENST00000284311.3	37	c.201	CCDS2931.1	3																																																																																			GPR15	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000154165		0.483	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR15	HGNC	protein_coding	OTTHUMT00000358907.1	46	0.00	0	G			98251078	98251078	+1	no_errors	ENST00000284311	ensembl	human	known	69_37n	silent	46	19.30	11	SNP	0.999	A
KIAA2022	340533	genome.wustl.edu	37	X	73961191	73961191	+	Silent	SNP	G	G	T			TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chrX:73961191G>T	ENST00000055682.6	-	3	3812	c.3201C>A	c.(3199-3201)tcC>tcA	p.S1067S		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1067					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCTCTGAAAGGGAAGAGTGGC	0.488																																						dbGAP											0													88.0	84.0	85.0					X																	73961191		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3201C>A	X.37:g.73961191G>T			A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	NULL	p.S1067	ENST00000055682.6	37	c.3201	CCDS35337.1	X																																																																																			KIAA2022	-	NULL	ENSG00000050030		0.488	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	54	0.00	0	G	NM_001008537		73961191	73961191	-1	no_errors	ENST00000055682	ensembl	human	known	69_37n	silent	43	17.31	9	SNP	0.869	T
MUC20	200958	genome.wustl.edu	37	3	195452814	195452814	+	Missense_Mutation	SNP	C	C	T	rs199753483		TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr3:195452814C>T	ENST00000447234.2	+	2	1466	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M	MUC20_ENST00000436408.1_Missense_Mutation_p.T447M|MUC20_ENST00000320736.6_Missense_Mutation_p.T276M|MUC20_ENST00000445522.2_Missense_Mutation_p.T412M	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	447					activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CTCATCCCCACGGAAGGGGTG	0.537																																						dbGAP											0													35.0	31.0	32.0					3																	195452814		2053	4183	6236	-	-	-	SO:0001583	missense	0			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1340C>T	3.37:g.195452814C>T	ENSP00000414350:p.Thr447Met		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	NULL	p.T447M	ENST00000447234.2	37	c.1340		3	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432260	0.43122	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.18016	2.67;2.72;2.84;2.24	4.38	3.51	0.40186	.	1.054240	0.07475	N	0.902873	T	0.29093	0.0723	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.66196	0.942	T	0.20174	-1.0283	10	0.62326	D	0.03	0.7157	8.4723	0.32993	0.0:0.8925:0.0:0.1075	.	276	E9PH32	.	M	447;276;447;412	ENSP00000414350:T447M;ENSP00000325431:T276M;ENSP00000396774:T447M;ENSP00000405629:T412M	ENSP00000325431:T276M	T	+	2	0	MUC20	196938485	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.101000	0.10973	1.198000	0.43158	0.514000	0.50259	ACG	MUC20	-	NULL	ENSG00000176945		0.537	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	24	0.00	0	C	NM_152673		195452814	195452814	+1	no_errors	ENST00000447234	ensembl	human	known	69_37n	missense	21	16.00	4	SNP	0.002	T
OR11H1	81061	genome.wustl.edu	37	22	16449784	16449784	+	Missense_Mutation	SNP	C	C	A	rs200562384	byFrequency	TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr22:16449784C>A	ENST00000252835.4	-	1	21	c.21G>T	c.(19-21)caG>caT	p.Q7H		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		GGCCAGTGACCTGCAAGGTCA	0.358																																						dbGAP											0													1.0	1.0	1.0					22																	16449784		475	1076	1551	-	-	-	SO:0001583	missense	0			AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.21G>T	22.37:g.16449784C>A	ENSP00000252835:p.Gln7His		Q6IEX0|Q96R32	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Q7H	ENST00000252835.4	37	c.21	CCDS33594.1	22	.	.	.	.	.	.	.	.	.	.	c	0.080	-1.186114	0.01620	.	.	ENSG00000130538	ENST00000252835	T	0.00004	9.8	1.41	0.267	0.15622	.	.	.	.	.	T	0.00039	0.0001	N	0.14661	0.345	0.09310	N	1	B	0.33637	0.42	B	0.31869	0.137	T	0.00000	-1.2848	9	0.30078	T	0.28	.	4.0282	0.09697	0.0:0.752:0.0:0.248	.	7	Q8NG94	O11H1_HUMAN	H	7	ENSP00000252835:Q7H	ENSP00000252835:Q7H	Q	-	3	2	OR11H1	14829784	0.000000	0.05858	0.037000	0.18230	0.126000	0.20510	-1.911000	0.01583	0.153000	0.19213	0.064000	0.15345	CAG	OR11H1	-	NULL	ENSG00000130538		0.358	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H1	HGNC	protein_coding	OTTHUMT00000074923.2	20	0.00	0	C	NM_001005239		16449784	16449784	-1	no_errors	ENST00000252835	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	0.037	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047L	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	39	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	46	25.81	16	SNP	1.000	T
PRODH	5625	genome.wustl.edu	37	22	18909913	18909914	+	Frame_Shift_Ins	INS	-	-	T	rs199829422		TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr22:18909913_18909914insT	ENST00000357068.6	-	7	1118_1119	c.853_854insA	c.(853-855)agtfs	p.S285fs	PRODH_ENST00000334029.2_Frame_Shift_Ins_p.S177fs|PRODH_ENST00000420436.1_Frame_Shift_Ins_p.S177fs	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	285					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	CTTTGCGACACTTTCCTTGAGA	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"""proline dehydrogenase (proline oxidase )"""			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.854dupA	22.37:g.18909916_18909916dupT	ENSP00000349577:p.Ser285fs		A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Frame_Shift_Ins	INS	pfam_Proline_DH	p.S285fs	ENST00000357068.6	37	c.854_853	CCDS13754.1	22																																																																																			PRODH	-	pfam_Proline_DH	ENSG00000100033		0.545	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH	HGNC	protein_coding	OTTHUMT00000316637.2	27	0.00	0	-	NM_016335		18909913	18909914	-1	no_errors	ENST00000357068	ensembl	human	known	69_37n	frame_shift_ins	25	24.24	8	INS	0.972:0.997	T
RBM28	55131	genome.wustl.edu	37	7	127963629	127963629	+	Missense_Mutation	SNP	G	G	A	rs145208220	byFrequency	TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr7:127963629G>A	ENST00000223073.2	-	13	1469	c.1355C>T	c.(1354-1356)aCg>aTg	p.T452M	RBM28_ENST00000415472.2_Missense_Mutation_p.T311M|RBM28_ENST00000481788.1_5'Flank	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	452					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TGCAGCCTTCGTCCCAGCACG	0.463													G|||	7	0.00139776	0.0053	0.0	5008	,	,		22901	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													192.0	170.0	178.0					7																	127963629		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1355C>T	7.37:g.127963629G>A	ENSP00000223073:p.Thr452Met		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T452M	ENST00000223073.2	37	c.1355	CCDS5801.1	7	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	G	22.4	4.288285	0.80803	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.23950	2.81;1.88	6.08	5.2	0.72013	.	0.242285	0.48767	D	0.000180	T	0.33440	0.0863	M	0.72118	2.19	0.58432	D	0.999999	D;D;D	0.89917	0.977;1.0;0.99	P;D;P	0.83275	0.722;0.996;0.722	T	0.44742	-0.9308	10	0.87932	D	0	-8.9605	13.1709	0.59597	0.0766:0.0:0.9234:0.0	.	311;452;311	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	M	452;311	ENSP00000223073:T452M;ENSP00000390517:T311M	ENSP00000223073:T452M	T	-	2	0	RBM28	127750865	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.156000	0.89645	1.591000	0.50007	0.655000	0.94253	ACG	RBM28	-	NULL	ENSG00000106344		0.463	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM28	HGNC	protein_coding	OTTHUMT00000349442.2	84	0.00	0	G	NM_018077		127963629	127963629	-1	no_errors	ENST00000223073	ensembl	human	known	69_37n	missense	69	29.59	29	SNP	1.000	A
TIMM44	10469	genome.wustl.edu	37	19	7999109	7999109	+	Silent	SNP	G	G	A			TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr19:7999109G>A	ENST00000270538.3	-	5	676	c.408C>T	c.(406-408)gtC>gtT	p.V136V	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	136					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CACTTTTACTGACTTCGTGAA	0.627																																						dbGAP											0													71.0	77.0	75.0					19																	7999109		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.408C>T	19.37:g.7999109G>A			A8K0R9|D6W664|Q8N193	Silent	SNP	pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44	p.V136	ENST00000270538.3	37	c.408	CCDS12192.1	19																																																																																			TIMM44	-	pirsf_Tim44,tigrfam_Tim44	ENSG00000104980		0.627	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	TIMM44	HGNC	protein_coding	OTTHUMT00000461596.3	42	0.00	0	G			7999109	7999109	-1	no_errors	ENST00000270538	ensembl	human	known	69_37n	silent	21	19.23	5	SNP	0.995	A
TMEM97	27346	genome.wustl.edu	37	17	26653645	26653645	+	Silent	SNP	G	G	C			TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr17:26653645G>C	ENST00000226230.6	+	3	502	c.357G>C	c.(355-357)ctG>ctC	p.L119L	TMEM97_ENST00000336687.6_Silent_p.L12L|TMEM97_ENST00000583381.1_Silent_p.L12L	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	119					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CCACATTTCTGTTTGAGGATT	0.463																																						dbGAP											0													123.0	102.0	109.0					17																	26653645		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.357G>C	17.37:g.26653645G>C			B4DS02|Q07823	Silent	SNP	pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97	p.L119	ENST00000226230.6	37	c.357	CCDS11226.2	17																																																																																			TMEM97	-	pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97	ENSG00000109084		0.463	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM97	HGNC	protein_coding	OTTHUMT00000255675.2	75	0.00	0	G	NM_014573		26653645	26653645	+1	no_errors	ENST00000226230	ensembl	human	known	69_37n	silent	72	40.00	48	SNP	0.448	C
TNRC18	84629	genome.wustl.edu	37	7	5352597	5352599	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr7:5352597_5352599delGAG	ENST00000430969.1	-	27	8271_8273	c.7923_7925delCTC	c.(7921-7926)tcctct>tct	p.2641_2642SS>S	TNRC18_ENST00000399537.4_In_Frame_Del_p.2641_2642SS>S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2641	Ser-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		cgaagaggaagaggaggaggagg	0.616																																						dbGAP											0										7,58,3583		0,1,6,11,35,1771						-6.7	0.0			6	12,58,6998		4,0,4,5,48,3473	no	codingComplex	TNRC18	NM_001080495.2		4,1,10,16,83,5244	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9904,1.7818,1.2598				19,116,10581				-	-	-	SO:0001651	inframe_deletion	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7923_7925delCTC	7.37:g.5352606_5352608delGAG	ENSP00000395538:p.Ser2671del		A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.S2645in_frame_del	ENST00000430969.1	37	c.7925_7923	CCDS47534.1	7																																																																																			TNRC18	-	NULL	ENSG00000182095		0.616	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		8	0.00	0	GAG			5352597	5352599	-1	no_errors	ENST00000399537	ensembl	human	known	69_37n	in_frame_del	6	33.33	3	DEL	0.984:0.989:0.972	-
ZBTB40	9923	genome.wustl.edu	37	1	22835660	22835660	+	Silent	SNP	C	C	A			TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr1:22835660C>A	ENST00000375647.4	+	9	1974	c.1767C>A	c.(1765-1767)atC>atA	p.I589I	ZBTB40_ENST00000404138.1_Silent_p.I589I|ZBTB40_ENST00000374651.4_Silent_p.I477I	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	589					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGGAGGCCATCCAACAGAAGA	0.473																																						dbGAP											0													145.0	142.0	143.0					1																	22835660		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1767C>A	1.37:g.22835660C>A			O75066|Q5TFU5|Q8N1R1	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.I589	ENST00000375647.4	37	c.1767	CCDS224.1	1																																																																																			ZBTB40	-	NULL	ENSG00000184677		0.473	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB40	HGNC	protein_coding	OTTHUMT00000008094.1	60	0.00	0	C	NM_014870		22835660	22835660	+1	no_errors	ENST00000375647	ensembl	human	known	69_37n	silent	48	30.43	21	SNP	0.840	A
ZMYM2	7750	genome.wustl.edu	37	13	20625633	20625633	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1RI-01A-11D-A167-09	TCGA-E9-A1RI-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	661c0074-dac9-44c6-bebc-202cfb9fb735	3e00fb1f-9467-4e28-ac73-2b6a7f7807eb	g.chr13:20625633G>A	ENST00000382874.2	+	14	2543	c.2353G>A	c.(2353-2355)Ggg>Agg	p.G785R	ZMYM2_ENST00000382883.3_Missense_Mutation_p.G267R|ZMYM2_ENST00000382871.2_Missense_Mutation_p.G785R|ZMYM2_ENST00000382869.3_Missense_Mutation_p.G785R	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	785					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TCAGTGGCGTGGGGAAATGAA	0.383																																						dbGAP											0													123.0	124.0	124.0					13																	20625633		1903	4117	6020	-	-	-	SO:0001583	missense	0			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2353G>A	13.37:g.20625633G>A	ENSP00000372327:p.Gly785Arg		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.G785R	ENST00000382874.2	37	c.2353	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842391	0.91197	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382883;ENST00000382870	T;T	0.54479	1.56;0.57	5.62	5.62	0.85841	TRASH (1);Zinc finger, MYM-type (1);	0.142257	0.64402	D	0.000006	T	0.70928	0.3280	L	0.60455	1.87	0.52099	D	0.999945	D	0.89917	1.0	D	0.72338	0.977	T	0.72472	-0.4283	10	0.87932	D	0	-8.8075	19.643	0.95764	0.0:0.0:1.0:0.0	.	785	Q9UBW7	ZMYM2_HUMAN	R	785;785;783;783;267;163	ENSP00000372322:G785R;ENSP00000372336:G267R	ENSP00000372322:G785R	G	+	1	0	ZMYM2	19523633	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	4.838000	0.62803	2.639000	0.89480	0.650000	0.86243	GGG	ZMYM2	-	pfam_Znf_MYM,smart_TRASH	ENSG00000121741		0.383	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	72	0.00	0	G	NM_003453		20625633	20625633	+1	no_errors	ENST00000382869	ensembl	human	known	69_37n	missense	74	13.95	12	SNP	1.000	A
