#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	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_default_gene_name	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ABCF1	23	genome.wustl.edu	37	6	30545853	30545854	+	Splice_Site	INS	-	-	A	rs555740367		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr6:30545853_30545854insA	ENST00000326195.8	+	4	329_330	c.217_218insA	c.(217-219)caa>cAaa	p.Q73fs	ABCF1_ENST00000376545.3_Splice_Site_p.Q73fs|ABCF1_ENST00000396515.4_Splice_Site_p.Q73fs	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	73					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTCTCAGCAGCAAAAAAAAAAG	0.495																																																	0																																										SO:0001630	splice_region_variant	0			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.217-1->A	6.37:g.30545863_30545863dupA			A2BF75|O14897|Q69YP6	Frame_Shift_Ins	INS	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K77fs	ENST00000326195.8	37	c.217_218	CCDS34380.1	6																																																																																			ABCF1	-	NULL	ENSG00000204574		0.495	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABCF1	HGNC	protein_coding	OTTHUMT00000076137.3		0.00	19	0	-		Frame_Shift_Ins	30545854	+1	tier1		no_errors	ENST00000326195	ensembl	human	known	74_37	frame_shift_ins	11.54	23	3	INS	1.000:1.000	A
C16orf96	342346	genome.wustl.edu	37	16	4638207	4638207	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr16:4638207G>T	ENST00000444310.4	+	9	2467	c.2467G>T	c.(2467-2469)Gtt>Ttt	p.V823F		NM_001145011.1	NP_001138483.1			chromosome 16 open reading frame 96											NS(1)|breast(1)|endometrium(6)|kidney(1)|skin(3)	12						GGCAAGCCGCGTTGACCTGGA	0.572																																																	0													116.0	100.0	105.0					16																	4638207		692	1591	2283	SO:0001583	missense	0				CCDS53986.1	16p13.3	2012-10-10			ENSG00000205832	ENSG00000205832			40031	protein-coding gene	gene with protein product							Standard	NM_001145011		Approved		uc010uxn.2	A6NNT2	OTTHUMG00000176519	ENST00000444310.4:c.2467G>T	16.37:g.4638207G>T	ENSP00000415027:p.Val823Phe			Missense_Mutation	SNP	NULL	p.V823F	ENST00000444310.4	37	c.2467	CCDS53986.1	16	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521603	0.27211	.	.	ENSG00000205832	ENST00000444310	.	.	.	5.68	2.64	0.31445	.	.	.	.	.	T	0.33933	0.0880	L	0.29908	0.895	0.09310	N	1	B	0.32425	0.371	B	0.40329	0.326	T	0.30208	-0.9986	8	0.44086	T	0.13	.	6.1203	0.20150	0.1683:0.1536:0.6781:0.0	.	823	A6NNT2	CP096_HUMAN	F	823	.	ENSP00000415027:V823F	V	+	1	0	C16orf96	4578208	0.008000	0.16893	0.006000	0.13384	0.013000	0.08279	1.423000	0.34837	0.320000	0.23234	0.655000	0.94253	GTT	C16orf96	-	NULL	ENSG00000205832		0.572	C16orf96-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C16orf96	HGNC	protein_coding	OTTHUMT00000432384.1	-	0.00	44	0	G	NM_001145011		4638207	+1	tier1	-	no_errors	ENST00000444310	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.096	T
C1QTNF6	114904	genome.wustl.edu	37	22	37576428	37576428	+	3'UTR	SNP	C	C	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr22:37576428C>T	ENST00000337843.2	-	0	2712				C1QTNF6_ENST00000470655.1_5'UTR|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000397110.2_3'UTR	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6						protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						CACCAATGGGCGGAGGCCGCC	0.657																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.*1800G>A	22.37:g.37576428C>T			Q5H9G8|Q6ZRM7	RNA	SNP	-	NULL	ENST00000337843.2	37	NULL	CCDS13943.1	22																																																																																			C1QTNF6	-	-	ENSG00000133466		0.657	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF6	HGNC	protein_coding	OTTHUMT00000318807.1	-	0.00	61	0	C	NM_182486		37576428	-1	tier1	-	no_errors	ENST00000470655	ensembl	human	known	74_37	rna	8.70	42	4	SNP	0.000	T
C1orf111	284680	genome.wustl.edu	37	1	162343862	162343862	+	Silent	SNP	G	G	T	rs201331788		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr1:162343862G>T	ENST00000367935.5	-	3	841	c.762C>A	c.(760-762)ggC>ggA	p.G254G	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	254								p.G254G(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			AGGCTTCACCGCCAATTTGCC	0.567																																																	1	Substitution - coding silent(1)	lung(1)											176.0	186.0	183.0					1																	162343862		2203	4300	6503	SO:0001819	synonymous_variant	0			BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.762C>A	1.37:g.162343862G>T			Q6X961|Q8NEC3	Silent	SNP	NULL	p.G254	ENST00000367935.5	37	c.762	CCDS1238.1	1																																																																																			C1orf111	-	NULL	ENSG00000171722		0.567	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf111	HGNC	protein_coding	OTTHUMT00000076791.2		0.00	37	0	G	NM_182581		162343862	-1			no_errors	ENST00000367935	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.000	T
C2orf43	60526	genome.wustl.edu	37	2	20885317	20885317	+	3'UTR	SNP	G	G	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr2:20885317G>T	ENST00000237822.3	-	0	2403				C2orf43_ENST00000403006.2_Missense_Mutation_p.P229T|C2orf43_ENST00000381090.3_Missense_Mutation_p.P359T	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43											endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAATAAGTTGGCAGCAAATCA	0.458																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.*1346C>A	2.37:g.20885317G>T			B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	pfam_DUF2305	p.P229T	ENST00000237822.3	37	c.685	CCDS1702.1	2	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381100	0.24944	.	.	ENSG00000118961	ENST00000403006;ENST00000381090	.	.	.	4.05	0.16	0.14972	.	0.790677	0.10375	N	0.682243	T	0.20047	0.0482	.	.	.	0.09310	N	0.999999	P	0.37781	0.608	B	0.27500	0.08	T	0.15321	-1.0441	8	0.87932	D	0	-0.0217	3.7528	0.08573	0.3111:0.1857:0.5032:0.0	.	359	B5MDU6	.	T	229;359	.	ENSP00000370480:P359T	P	-	1	0	C2orf43	20748798	0.592000	0.26832	0.047000	0.18901	0.025000	0.11179	1.289000	0.33307	0.012000	0.14892	0.655000	0.94253	CCA	C2orf43	-	NULL	ENSG00000118961		0.458	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf43	HGNC	protein_coding	OTTHUMT00000242861.1		0.00	43	0	G	NM_021925		20885317	-1			no_errors	ENST00000403006	ensembl	human	putative	74_37	missense	6.00	47	3	SNP	0.053	T
CNN2	1265	genome.wustl.edu	37	19	1037969	1037971	+	3'UTR	DEL	TTT	TTT	-	rs60469398|rs112890956		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr19:1037969_1037971delTTT	ENST00000263097.4	+	0	1363_1365				CNN2_ENST00000348419.3_3'UTR|CNN2_ENST00000562958.2_3'UTR|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_3'UTR|ABCA7_ENST00000263094.6_5'Flank|AC011558.5_ENST00000585757.1_RNA	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2						actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		TGTTTTCATCTTTTTTTTTTTTT	0.512																																																	0																																										SO:0001624	3_prime_UTR_variant	0			D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.*72TTT>-	19.37:g.1037978_1037980delTTT			A5D8U8|A6NFI4|D6W5X9|Q92578	RNA	DEL	-	NULL	ENST00000263097.4	37	NULL	CCDS12053.1	19																																																																																			CNN2	-	-	ENSG00000064666		0.512	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN2	HGNC	protein_coding	OTTHUMT00000420293.3		0.00	20	0	TTT	NM_004368		1037971	+1	tier1		no_errors	ENST00000606983	ensembl	human	known	74_37	rna	41.18	10	7	DEL	0.000:0.000:0.000	-
CILP2	148113	genome.wustl.edu	37	19	19656499	19656499	+	Silent	SNP	C	C	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr19:19656499C>T	ENST00000291495.5	+	8	3230	c.3145C>T	c.(3145-3147)Ctg>Ttg	p.L1049L	CILP2_ENST00000586018.1_Silent_p.L1055L	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1049						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTTCTCCATGCTGGCCCCCCT	0.667																																																	0													30.0	23.0	25.0					19																	19656499		2203	4300	6503	SO:0001819	synonymous_variant	0			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.3145C>T	19.37:g.19656499C>T			Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.L1049	ENST00000291495.5	37	c.3145	CCDS12405.1	19																																																																																			CILP2	-	NULL	ENSG00000160161		0.667	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	HGNC	protein_coding	OTTHUMT00000459738.3		0.00	60	0	C	NM_153221		19656499	+1			no_errors	ENST00000291495	ensembl	human	known	74_37	silent	6.12	46	3	SNP	0.997	T
DERL1	79139	genome.wustl.edu	37	8	124054277	124054277	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr8:124054277C>T	ENST00000259512.4	-	1	386	c.86G>A	c.(85-87)gGc>gAc	p.G29D	DERL1_ENST00000419562.2_Missense_Mutation_p.G29D|RNY4P5_ENST00000362808.1_RNA|DERL1_ENST00000405944.3_Missense_Mutation_p.G29D	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	29					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCGAGTTTGCCGACCAAGGG	0.622																																																	0													73.0	58.0	63.0					8																	124054277		2203	4300	6503	SO:0001583	missense	0			BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"""Der1-like domain family, member 1"""			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.86G>A	8.37:g.124054277C>T	ENSP00000259512:p.Gly29Asp		B3KW41|E9PH19	Missense_Mutation	SNP	pfam_DER1	p.G29D	ENST00000259512.4	37	c.86	CCDS6337.1	8	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656425	0.67586	.	.	ENSG00000136986	ENST00000259512;ENST00000405944;ENST00000419562	T;T;T	0.33654	1.46;1.46;1.4	5.79	4.91	0.64330	.	0.096087	0.64402	D	0.000001	T	0.56381	0.1981	M	0.79011	2.435	0.80722	D	1	D;P;P	0.54964	0.969;0.952;0.754	P;P;P	0.56751	0.689;0.805;0.756	T	0.59123	-0.7513	10	0.37606	T	0.19	.	16.8696	0.86038	0.0:0.8715:0.1285:0.0	.	29;29;29	B4E1G1;Q9BUN8-2;Q9BUN8	.;.;DERL1_HUMAN	D	29	ENSP00000259512:G29D;ENSP00000384289:G29D;ENSP00000389965:G29D	ENSP00000259512:G29D	G	-	2	0	DERL1	124123458	1.000000	0.71417	0.998000	0.56505	0.019000	0.09904	7.033000	0.76504	1.438000	0.47492	-0.533000	0.04299	GGC	DERL1	-	pfam_DER1	ENSG00000136986		0.622	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL1	HGNC	protein_coding	OTTHUMT00000381714.2	-	0.00	112	0	C	NM_024295		124054277	-1	tier1	-	no_errors	ENST00000259512	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
COL22A1	169044	genome.wustl.edu	37	8	139697551	139697551	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr8:139697551G>A	ENST00000303045.6	-	38	3313	c.2867C>T	c.(2866-2868)gCa>gTa	p.A956V	COL22A1_ENST00000435777.1_Missense_Mutation_p.A956V|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	956	Collagen-like 8.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTCCCCCGCTGCACCCTGGAA	0.582										HNSCC(7;0.00092)																																							0													28.0	29.0	29.0					8																	139697551		2203	4300	6503	SO:0001583	missense	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2867C>T	8.37:g.139697551G>A	ENSP00000303153:p.Ala956Val		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.A956V	ENST00000303045.6	37	c.2867	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	G	5.890	0.348353	0.11126	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93488	-3.23;-3.23	4.77	3.82	0.43975	.	0.774115	0.10891	U	0.622720	D	0.88731	0.6516	L	0.37697	1.125	0.09310	N	1	B;B	0.23650	0.03;0.089	B;B	0.25614	0.037;0.062	T	0.77768	-0.2464	10	0.29301	T	0.29	.	9.2702	0.37666	0.0:0.0:0.7691:0.2309	.	956;956	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	V	956;956;669	ENSP00000303153:A956V;ENSP00000387655:A956V	ENSP00000303153:A956V	A	-	2	0	COL22A1	139766733	0.001000	0.12720	0.040000	0.18447	0.001000	0.01503	0.838000	0.27572	2.481000	0.83766	0.448000	0.29417	GCA	COL22A1	-	pfam_Collagen	ENSG00000169436		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2		0.00	29	0	G	XM_291257		139697551	-1			no_errors	ENST00000303045	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.012	A
DNAJC11	55735	genome.wustl.edu	37	1	6700029	6700029	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr1:6700029G>T	ENST00000377577.5	-	11	1309	c.1186C>A	c.(1186-1188)Cct>Act	p.P396T	DNAJC11_ENST00000542246.1_Missense_Mutation_p.P358T|DNAJC11_ENST00000377573.5_Missense_Mutation_p.P306T|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Intron	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	396						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		ACCACTAGAGGCCCCACGGTG	0.527																																																	0													91.0	83.0	86.0					1																	6700029		2203	4300	6503	SO:0001583	missense	0			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1186C>A	1.37:g.6700029G>T	ENSP00000366800:p.Pro396Thr		Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.P396T	ENST00000377577.5	37	c.1186	CCDS87.1	1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008706	0.93346	.	.	ENSG00000007923	ENST00000377577;ENST00000542246;ENST00000377573	D;D;D	0.90620	-1.62;-1.87;-2.7	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.95875	0.8657	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.95763	0.8802	10	0.87932	D	0	-18.6205	19.4017	0.94632	0.0:0.0:1.0:0.0	.	306;396	B4DGD5;Q9NVH1	.;DJC11_HUMAN	T	396;358;306	ENSP00000366800:P396T;ENSP00000444020:P358T;ENSP00000366796:P306T	ENSP00000366796:P306T	P	-	1	0	DNAJC11	6622616	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.158000	0.94723	2.835000	0.97688	0.591000	0.81541	CCT	DNAJC11	-	NULL	ENSG00000007923		0.527	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC11	HGNC	protein_coding	OTTHUMT00000004216.3	-	0.00	37	0	G	NM_018198		6700029	-1	tier1	-	no_errors	ENST00000377577	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
ASCC1	51008	genome.wustl.edu	37	10	73940733	73940733	+	Intron	DEL	T	T	-	rs534461070	byFrequency	TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr10:73940733delT	ENST00000342444.4	-	6	675				ASCC1_ENST00000545550.1_Intron|ASCC1_ENST00000394915.3_Intron|ASCC1_ENST00000394919.1_Intron|ASCC1_ENST00000317168.6_Intron|SNORA36_ENST00000363424.1_RNA|ASCC1_ENST00000317126.4_Intron	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						TTCATTTGCCtttttttttgg	0.468																																																	0																																										SO:0001627	intron_variant	0			AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.573+15835A>-	10.37:g.73940733delT			Q5SW06|Q5SW07|Q96EI8|Q9Y307	RNA	DEL	-	NULL	ENST00000342444.4	37	NULL	CCDS55713.1	10																																																																																			SNORA36	-	-	ENSG00000200294		0.468	ASCC1-004	KNOWN	basic|CCDS	protein_coding	ENSG00000200294	RFAM	protein_coding	OTTHUMT00000048573.2		0.00	21	0	T	NM_015947		73940733	+1	tier1		no_errors	ENST00000363424	ensembl	human	novel	74_37	rna	18.18	18	4	DEL	0.371	-
PHF20L1	51105	genome.wustl.edu	37	8	133854714	133854715	+	Intron	INS	-	-	T	rs71276510|rs398038307		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr8:133854714_133854715insT	ENST00000395386.2	+	19	2686				PHF20L1_ENST00000220847.7_Intron|AF230666.2_ENST00000608375.1_RNA|AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000395390.2_Intron	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1								zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTGTTAATAGATTTTTTTTTTT	0.356																																																	0																																										SO:0001627	intron_variant	0			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2388-45->T	8.37:g.133854725_133854725dupT			A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	RNA	INS	-	NULL	ENST00000395386.2	37	NULL	CCDS6367.2	8																																																																																			AF230666.2	-	-	ENSG00000223697		0.356	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ENSG00000223697	Clone_based_vega_gene	protein_coding	OTTHUMT00000308949.3		0.00	18	0	-	NM_016018		133854715	-1	tier1		no_errors	ENST00000608375	ensembl	human	known	74_37	rna	27.27	16	6	INS	0.014:0.003	T
FRG2DP	146481	genome.wustl.edu	37	16	34712970	34712970	+	RNA	DEL	A	A	-			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr16:34712970delA	ENST00000569028.2	-	0	384																											CCTTTGGGGGAAAAAGGCAAA	0.438																																																	0																																												0																															16.37:g.34712970delA				RNA	DEL	-	NULL	ENST00000569028.2	37	NULL		16																																																																																			RP11-80F22.9	-	-	ENSG00000261711		0.438	RP11-80F22.9-002	KNOWN	basic	processed_transcript	ENSG00000261711	Clone_based_vega_gene	pseudogene	OTTHUMT00000431372.2		0.00	41	0	A			34712970	-1	tier1		no_errors	ENST00000569028	ensembl	human	known	74_37	rna	12.90	27	4	DEL	0.006	-
FBN1	2200	genome.wustl.edu	37	15	48777639	48777639	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr15:48777639G>T	ENST00000316623.5	-	30	4099	c.3644C>A	c.(3643-3645)tCt>tAt	p.S1215Y		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1215	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.S1215C(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCTGCCTTCAGAGTTTGTGCA	0.418																																																	1	Substitution - Missense(1)	lung(1)											124.0	112.0	116.0					15																	48777639		2198	4296	6494	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3644C>A	15.37:g.48777639G>T	ENSP00000325527:p.Ser1215Tyr		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.S1215Y	ENST00000316623.5	37	c.3644	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.132480	0.94473	.	.	ENSG00000166147	ENST00000316623	D	0.96716	-4.1	6.05	6.05	0.98169	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.055257	0.85682	D	0.000000	D	0.94195	0.8137	N	0.10664	0.02	0.80722	D	1	D	0.55385	0.971	P	0.52159	0.691	D	0.95203	0.8318	10	0.72032	D	0.01	.	20.2037	0.98272	0.0:0.0:1.0:0.0	.	1215	P35555	FBN1_HUMAN	Y	1215	ENSP00000325527:S1215Y	ENSP00000325527:S1215Y	S	-	2	0	FBN1	46564931	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.756000	0.98918	2.866000	0.98385	0.650000	0.86243	TCT	FBN1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN	ENSG00000166147		0.418	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1		0.00	54	0	G			48777639	-1			no_errors	ENST00000316623	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T
FOXRED1	55572	genome.wustl.edu	37	11	126147446	126147446	+	Silent	SNP	G	G	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr11:126147446G>T	ENST00000263578.5	+	11	1397	c.1323G>T	c.(1321-1323)ggG>ggT	p.G441G	FOXRED1_ENST00000442061.2_Silent_p.G271G|FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000532125.1_Silent_p.G427G	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	441						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GTGGTCACGGGCTCCAGCAGG	0.572																																																	0													70.0	66.0	67.0					11																	126147446		2201	4298	6499	SO:0001819	synonymous_variant	0				CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.1323G>T	11.37:g.126147446G>T			B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Silent	SNP	pfam_FAD-dep_OxRdtase	p.G441	ENST00000263578.5	37	c.1323	CCDS8471.1	11																																																																																			FOXRED1	-	pfam_FAD-dep_OxRdtase	ENSG00000110074		0.572	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED1	HGNC	protein_coding	OTTHUMT00000386434.1		0.00	43	0	G	NM_017547		126147446	+1			no_errors	ENST00000263578	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.985	T
GPRIN2	9721	genome.wustl.edu	37	10	46999608	46999608	+	Frame_Shift_Del	DEL	C	C	-	rs374420863		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr10:46999608delC	ENST00000374317.1	+	3	1001	c.728delC	c.(727-729)gctfs	p.A243fs	GPRIN2_ENST00000374314.4_Frame_Shift_Del_p.A243fs	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	243										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GAGGTGAGGGCTGGTGGCTGC	0.632																																																	0													53.0	57.0	56.0					10																	46999608		2203	4300	6503	SO:0001589	frameshift_variant	0			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.728delC	10.37:g.46999608delC	ENSP00000363436:p.Ala243fs		Q5SVF0	Frame_Shift_Del	DEL	NULL	p.A243fs	ENST00000374317.1	37	c.728	CCDS31192.1	10																																																																																			GPRIN2	-	NULL	ENSG00000204175		0.632	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	HGNC	protein_coding	OTTHUMT00000047836.1		0.00	72	0	C	NM_014696		46999608	+1	tier1		no_errors	ENST00000374314	ensembl	human	known	74_37	frame_shift_del	9.86	64	7	DEL	0.001	-
GDF10	2662	genome.wustl.edu	37	10	48438447	48438447	+	Silent	SNP	C	C	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr10:48438447C>T	ENST00000224605.2	-	1	529	c.264G>A	c.(262-264)cgG>cgA	p.R88R		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	88					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GCGCGCCCTGCCGGCTGTACT	0.682																																																	0													18.0	15.0	16.0					10																	48438447		2192	4290	6482	SO:0001819	synonymous_variant	0			L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.264G>A	10.37:g.48438447C>T			Q5VSQ8|Q9UCX6	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10	p.R88	ENST00000224605.2	37	c.264	CCDS7220.1	10																																																																																			GDF10	-	pfam_TGF-b_N,pirsf_BMP3/GDF10	ENSG00000107623		0.682	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF10	HGNC	protein_coding	OTTHUMT00000047884.1	-	0.00	58	0	C	NM_004962		48438447	-1	tier1	-	no_errors	ENST00000224605	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.980	T
HSD17B4	3295	genome.wustl.edu	37	5	118814681	118814681	+	Missense_Mutation	SNP	C	C	T	rs550705310		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr5:118814681C>T	ENST00000256216.6	+	8	720	c.587C>T	c.(586-588)gCg>gTg	p.A196V	HSD17B4_ENST00000515320.1_Missense_Mutation_p.A178V|HSD17B4_ENST00000513628.1_Missense_Mutation_p.A59V|HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000504811.1_Missense_Mutation_p.A221V|HSD17B4_ENST00000414835.2_Missense_Mutation_p.A56V|HSD17B4_ENST00000510025.1_Missense_Mutation_p.A172V	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	196	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GCTCCTAATGCGGGATCACGG	0.408													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14973	0.0		0.0	False		,,,				2504	0.0				Colon(35;490 801 34689 41394 43344)												0													144.0	131.0	135.0					5																	118814681		2202	4300	6502	SO:0001583	missense	0				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.587C>T	5.37:g.118814681C>T	ENSP00000256216:p.Ala196Val		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_dom,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.A196V	ENST00000256216.6	37	c.587	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.502566	0.96371	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628	D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.22	5.22	0.72569	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94381	0.8193	M	0.76433	2.335	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;P	0.97110	1.0;0.999;0.989;0.904	D	0.94772	0.7946	10	0.87932	D	0	-22.1316	18.7471	0.91797	0.0:1.0:0.0:0.0	.	221;178;172;196	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	V	196;178;172;221;56;59	ENSP00000256216:A196V;ENSP00000424613:A178V;ENSP00000424940:A172V;ENSP00000420914:A221V;ENSP00000411960:A56V;ENSP00000425993:A59V	ENSP00000256216:A196V	A	+	2	0	HSD17B4	118842580	1.000000	0.71417	0.265000	0.24526	0.978000	0.69477	7.670000	0.83925	2.586000	0.87340	0.655000	0.94253	GCG	HSD17B4	-	prints_DHB_DH	ENSG00000133835		0.408	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3		0.00	54	0	C	NM_000414		118814681	+1			no_errors	ENST00000256216	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T
KIFC2	90990	genome.wustl.edu	37	8	145697980	145697980	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr8:145697980delC	ENST00000301332.2	+	16	2129	c.1752delC	c.(1750-1752)agcfs	p.S584fs	KIFC2_ENST00000301331.5_Intron|FOXH1_ENST00000525197.1_5'Flank|KIFC2_ENST00000531423.1_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	584	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGGGGAGGAGCAACCGGGCCA	0.726																																																	0													14.0	20.0	18.0					8																	145697980		2191	4276	6467	SO:0001589	frameshift_variant	0			AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1752delC	8.37:g.145697980delC	ENSP00000301332:p.Ser584fs		E9PHB2|Q96NN6	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.S584fs	ENST00000301332.2	37	c.1752	CCDS6427.1	8																																																																																			KIFC2	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000167702		0.726	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC2	HGNC	protein_coding	OTTHUMT00000382052.2		0.00	16	0	C	NM_145754		145697980	+1	tier1		no_errors	ENST00000301332	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.976	-
MAP4K3	8491	genome.wustl.edu	37	2	39552664	39552665	+	In_Frame_Ins	INS	-	-	ATC			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr2:39552664_39552665insATC	ENST00000263881.3	-	12	1236_1237	c.912_913insGAT	c.(910-915)gatcct>gatGATcct	p.304_305insD	MAP4K3_ENST00000437545.1_In_Frame_Ins_p.241_242insD|MAP4K3_ENST00000341681.5_In_Frame_Ins_p.304_305insD|MAP4K3_ENST00000536018.1_De_novo_Start_OutOfFrame|RP11-449G16.1_ENST00000609671.1_RNA	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	304					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CCTACCTCAGGATCATCATCAT	0.351																																																	0																																										SO:0001652	inframe_insertion	0			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.910_912dupGAT	2.37:g.39552671_39552673dupATC	ENSP00000263881:p.Asp304_Asp304dup		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	In_Frame_Ins	INS	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.304in_frame_insD	ENST00000263881.3	37	c.913_912	CCDS1803.1	2																																																																																			MAP4K3	-	superfamily_Kinase-like_dom	ENSG00000011566		0.351	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K3	HGNC	protein_coding	OTTHUMT00000219966.2		0.00	33	0	-	NM_003618		39552665	-1	tier1		no_errors	ENST00000263881	ensembl	human	known	74_37	in_frame_ins	5.71	33	2	INS	1.000:1.000	ATC
MARCH7	64844	genome.wustl.edu	37	2	160604680	160604680	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr2:160604680delT	ENST00000259050.4	+	5	1001	c.879delT	c.(877-879)actfs	p.T293fs	MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	293	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGTCATCTACTTTTTTTTCAC	0.393																																																	0													63.0	64.0	64.0					2																	160604680		2203	4300	6503	SO:0001589	frameshift_variant	0			AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.879delT	2.37:g.160604680delT	ENSP00000259050:p.Thr293fs		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.S296fs	ENST00000259050.4	37	c.879	CCDS2210.1	2																																																																																			MARCH7	-	NULL	ENSG00000136536		0.393	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH7	HGNC	protein_coding	OTTHUMT00000255040.3		0.00	27	0	T	NM_022826		160604680	+1	tier1		no_errors	ENST00000259050	ensembl	human	known	74_37	frame_shift_del	12.50	21	3	DEL	0.910	-
MDN1	23195	genome.wustl.edu	37	6	90371837	90371837	+	Missense_Mutation	SNP	C	C	T	rs528018897	byFrequency	TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr6:90371837C>T	ENST00000369393.3	-	87	14649	c.14534G>A	c.(14533-14535)gGt>gAt	p.G4845D	MDN1_ENST00000428876.1_Missense_Mutation_p.G4845D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4845					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTGTCTTCACCTTGTCCACC	0.388													C|||	5	0.000998403	0.0	0.0	5008	,	,		21126	0.005		0.0	False		,,,				2504	0.0																0													424.0	370.0	388.0					6																	90371837		2203	4299	6502	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14534G>A	6.37:g.90371837C>T	ENSP00000358400:p.Gly4845Asp		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.G4845D	ENST00000369393.3	37	c.14534	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	5.247	0.231040	0.09969	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03580	3.88;3.88	5.62	3.85	0.44370	.	0.409888	0.24866	N	0.034974	T	0.00784	0.0026	L	0.28556	0.865	0.25875	N	0.983668	B	0.06786	0.001	B	0.08055	0.003	T	0.48854	-0.8998	10	0.13470	T	0.59	.	4.8462	0.13514	0.0:0.54:0.1488:0.3112	.	4845	Q9NU22	MDN1_HUMAN	D	4845	ENSP00000358400:G4845D;ENSP00000413970:G4845D	ENSP00000358400:G4845D	G	-	2	0	MDN1	90428558	0.989000	0.36119	0.998000	0.56505	0.111000	0.19643	1.604000	0.36804	0.844000	0.35094	0.585000	0.79938	GGT	MDN1	-	pirsf_Midasin	ENSG00000112159		0.388	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0.00	81	0	C			90371837	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.996	T
MOSPD1	56180	genome.wustl.edu	37	X	134033227	134033227	+	Intron	DEL	T	T	-			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chrX:134033227delT	ENST00000370783.3	-	3	341				MOSPD1_ENST00000370777.1_Intron|MOSPD1_ENST00000491609.1_Intron|MOSPD1_ENST00000370779.4_Intron	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					GCCATTAGTGTTTTTTTTTTT	0.353																																																	0										79,762,2880		0,0,64,15,2,555,203,971,319	70.0	70.0	70.0			2.5	0.8	X		76	131,1554,4799		0,0,77,54,0,865,689,1415,1027	no	intron	MOSPD1	NM_019556.1		0,0,141,69,2,1420,892,2386,1346	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		25.987,22.6015,24.7526			134033227	210,2316,7679	2203	4300	6503	SO:0001627	intron_variant	0			Z83826	CCDS14645.1	Xq26.3	2008-02-05			ENSG00000101928	ENSG00000101928			25235	protein-coding gene	gene with protein product		300674				15533722	Standard	XM_005262446		Approved	dJ473B4	uc004eyb.3	Q9UJG1	OTTHUMG00000035315	ENST00000370783.3:c.155-32A>-	X.37:g.134033227delT			B2RE62|D3DTG5|Q5H9C5|Q5H9C7	RNA	DEL	-	NULL	ENST00000370783.3	37	NULL	CCDS14645.1	X																																																																																			MOSPD1	-	-	ENSG00000101928		0.353	MOSPD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MOSPD1	HGNC	protein_coding	OTTHUMT00000085439.1		0.00	23	0	T	NM_019556		134033227	-1	tier1		no_errors	ENST00000462060	ensembl	human	known	74_37	rna	10.71	25	3	DEL	0.001	-
MRRF	92399	genome.wustl.edu	37	9	125084867	125084867	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr9:125084867G>A	ENST00000344641.3	+	7	1071	c.760G>A	c.(760-762)Gca>Aca	p.A254T	RP11-498E2.7_ENST00000602625.1_lincRNA|MRRF_ENST00000394315.3_Nonsense_Mutation_p.W200*|MRRF_ENST00000373723.5_Nonsense_Mutation_p.W200*|MRRF_ENST00000373729.1_Missense_Mutation_p.A210T|MRRF_ENST00000297908.3_Missense_Mutation_p.A202T	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	254					ribosome disassembly (GO:0032790)|translation (GO:0006412)	mitochondrion (GO:0005739)				breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						CAGGCATCTGGCAGTGAAGAC	0.517																																																	0													75.0	65.0	68.0					9																	125084867		2203	4300	6503	SO:0001583	missense	0			AA115320	CCDS6840.1, CCDS48013.1, CCDS55336.1	9q32-q34.1	2008-02-05			ENSG00000148187	ENSG00000148187			7234	protein-coding gene	gene with protein product		604602				9838146, 10773675	Standard	NM_001173512		Approved	RRF	uc010mwa.3	Q96E11	OTTHUMG00000020600	ENST00000344641.3:c.760G>A	9.37:g.125084867G>A	ENSP00000343867:p.Ala254Thr		A8K6D8|A8K6Z4|B7Z4X5|B7Z6P7|Q5RKT1|Q5T7T0|Q5T7T1|Q5T7T2|Q5T7T3|Q5T7T4|Q5T7T5	Nonsense_Mutation	SNP	pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom	p.W200*	ENST00000344641.3	37	c.600	CCDS6840.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.844169|6.844169	0.97881|0.97881	.|.	.|.	ENSG00000148187|ENSG00000148187	ENST00000297908;ENST00000344641;ENST00000373729|ENST00000373723;ENST00000394315	T;T;T|.	0.47177|.	0.85;0.85;0.85|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Ribosome recycling factor domain (2);|.	0.047907|.	0.85682|.	D|.	0.000000|.	T|.	0.77883|.	0.4197|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;P|.	0.34977|.	0.34;0.478|.	B;B|.	0.35931|.	0.108;0.214|.	T|.	0.79475|.	-0.1788|.	9|.	0.54805|0.66056	T|D	0.06|0.02	-2.6346|-2.6346	18.6699|18.6699	0.91507|0.91507	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	202;254|.	Q96E11-8;Q96E11|.	.;RRFM_HUMAN|.	T|X	202;254;210|200	ENSP00000297908:A202T;ENSP00000343867:A254T;ENSP00000362834:A210T|.	ENSP00000297908:A202T|ENSP00000362828:W200X	A|W	+|+	1|3	0|0	MRRF|MRRF	124124688|124124688	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.034000|5.034000	0.64152|0.64152	2.653000|2.653000	0.90120|0.90120	0.650000|0.650000	0.86243|0.86243	GCA|TGG	MRRF	-	NULL	ENSG00000148187		0.517	MRRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRRF	HGNC	protein_coding	OTTHUMT00000053914.1	-	0.00	56	0	G	NM_138777		125084867	+1	tier1	-	no_errors	ENST00000373723	ensembl	human	known	74_37	nonsense	8.70	42	4	SNP	1.000	A
MUC12	10071	genome.wustl.edu	37	7	100612955	100612956	+	In_Frame_Ins	INS	-	-	CTG	rs150485202|rs374842509		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr7:100612955_100612956insCTG	ENST00000379442.3	+	1	52_53	c.52_53insCTG	c.(52-54)act>aCTGct	p.18_19insA	RP11-395B7.2_ENST00000420080.1_RNA|MUC12_ENST00000536621.1_In_Frame_Ins_p.18_19insA			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	18					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CGCGTCCGTTACTACAGTGACA	0.634																																																	0										747,2323		50,647,838						-0.8	0.0		dbSNP_130	49	1170,4352		68,1034,1659	no	coding	MUC12	NM_001164462.1		118,1681,2497	A1A1,A1R,RR		21.188,24.3322,22.3115				1917,6675				SO:0001652	inframe_insertion	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	Exception_encountered	7.37:g.100612955_100612956insCTG	ENSP00000368755:p.Thr18_Thr19insAla		A6ND38|F5GWV9|Q9UKN0	In_Frame_Ins	INS	pfam_SEA_dom	p.19in_frame_insA	ENST00000379442.3	37	c.52_53		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.634	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1		0.00	28	0	-	XM_379904		100612956	+1	tier1		no_errors	ENST00000536621	ensembl	human	known	74_37	in_frame_ins	22.73	17	5	INS	0.000:0.000	CTG
NMD3	51068	genome.wustl.edu	37	3	160951234	160951234	+	Silent	SNP	G	G	A			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr3:160951234G>A	ENST00000460469.1	+	4	779	c.324G>A	c.(322-324)aaG>aaA	p.K108K	NMD3_ENST00000351193.2_Silent_p.K108K|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Silent_p.K108K			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	108					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)	p.K108K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CTCATTCTAAGAGACTTAAAG	0.373																																																	1	Substitution - coding silent(1)	cervix(1)											125.0	118.0	120.0					3																	160951234		2203	4300	6503	SO:0001819	synonymous_variant	0			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.324G>A	3.37:g.160951234G>A			D3DNM7|Q9Y2Z6	Silent	SNP	pfam_NMD3	p.K108	ENST00000460469.1	37	c.324	CCDS3194.1	3																																																																																			NMD3	-	pfam_NMD3	ENSG00000169251		0.373	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NMD3	HGNC	protein_coding	OTTHUMT00000353114.1		0.00	59	0	G	NM_015938		160951234	+1			no_errors	ENST00000351193	ensembl	human	known	74_37	silent	7.41	25	2	SNP	1.000	A
NR4A3	8013	genome.wustl.edu	37	9	102590532	102590532	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr9:102590532G>T	ENST00000395097.2	+	3	937	c.208G>T	c.(208-210)Gaa>Taa	p.E70*	NR4A3_ENST00000330847.1_Nonsense_Mutation_p.E81*|NR4A3_ENST00000338488.4_Nonsense_Mutation_p.E70*	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	70					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GAGCAACTACGAACTCAAGCC	0.597			T	EWSR1	extraskeletal myxoid chondrosarcoma																																			Dom	yes		9	9q22	8013	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""		M	0													120.0	98.0	106.0					9																	102590532		2203	4300	6503	SO:0001587	stop_gained	0			U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.208G>T	9.37:g.102590532G>T	ENSP00000378531:p.Glu70*		A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Nonsense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.E81*	ENST00000395097.2	37	c.241	CCDS6743.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.468471	0.96274	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	.	.	.	5.47	4.56	0.56223	.	2.442790	0.01103	N	0.005410	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.9723	0.80031	0.0:0.0:0.864:0.136	.	.	.	.	X	70;70;81	.	ENSP00000333122:E81X	E	+	1	0	NR4A3	101630353	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.700000	0.98707	1.424000	0.47217	0.557000	0.71058	GAA	NR4A3	-	NULL	ENSG00000119508		0.597	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A3	HGNC	protein_coding	OTTHUMT00000055482.1		0.00	17	0	G			102590532	+1			no_errors	ENST00000330847	ensembl	human	known	74_37	nonsense	7.69	24	2	SNP	1.000	T
ODF2L	57489	genome.wustl.edu	37	1	86842069	86842069	+	Silent	SNP	C	C	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr1:86842069C>T	ENST00000359242.3	-	8	938	c.657G>A	c.(655-657)ctG>ctA	p.L219L	ODF2L_ENST00000370567.1_Silent_p.L219L|ODF2L_ENST00000524695.1_5'Flank|ODF2L_ENST00000317336.7_Silent_p.L219L|ODF2L_ENST00000394731.1_Silent_p.L88L|ODF2L_ENST00000294678.2_Silent_p.L219L|ODF2L_ENST00000370566.3_Silent_p.L219L	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	219						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTCTTGATTGCAGGTTCCACT	0.303																																																	0													135.0	125.0	129.0					1																	86842069		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.657G>A	1.37:g.86842069C>T			A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Silent	SNP	NULL	p.L219	ENST00000359242.3	37	c.657	CCDS41354.2	1	.	.	.	.	.	.	.	.	.	.	C	1.143	-0.648818	0.03506	.	.	ENSG00000122417	ENST00000459999	.	.	.	5.55	1.41	0.22369	.	.	.	.	.	T	0.43897	0.1268	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35351	-0.9792	4	.	.	.	-4.0237	9.3131	0.37917	0.0:0.6568:0.0:0.3432	.	.	.	.	Y	68	.	.	C	-	2	0	ODF2L	86614657	0.981000	0.34729	0.993000	0.49108	0.137000	0.21094	-0.012000	0.12699	0.345000	0.23873	0.655000	0.94253	TGC	ODF2L	-	NULL	ENSG00000122417		0.303	ODF2L-001	KNOWN	basic|CCDS	protein_coding	ODF2L	HGNC	protein_coding	OTTHUMT00000027873.2	-	0.00	92	0	C			86842069	-1	tier1	-	no_errors	ENST00000317336	ensembl	human	known	74_37	silent	5.48	69	4	SNP	0.970	T
OR5AU1	390445	genome.wustl.edu	37	14	21623832	21623832	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr14:21623832G>T	ENST00000304418.3	-	1	390	c.353C>A	c.(352-354)tCc>tAc	p.S118Y		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	118						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ATCCAAGAAGGAGAGGCTCTT	0.532																																																	0													95.0	78.0	84.0					14																	21623832		2203	4300	6503	SO:0001583	missense	0			AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.353C>A	14.37:g.21623832G>T	ENSP00000302057:p.Ser118Tyr		B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S118Y	ENST00000304418.3	37	c.353	CCDS32042.1	14	.	.	.	.	.	.	.	.	.	.	G	15.11	2.734962	0.48939	.	.	ENSG00000169327	ENST00000304418	T	0.12361	2.69	4.34	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.45135	0.1327	M	0.91140	3.18	0.58432	D	0.999993	D	0.89917	1.0	D	0.79784	0.993	T	0.57751	-0.7757	9	0.87932	D	0	.	14.4122	0.67121	0.0:0.0:1.0:0.0	.	118	Q8NGC0	O5AU1_HUMAN	Y	118	ENSP00000302057:S118Y	ENSP00000302057:S118Y	S	-	2	0	OR5AU1	20693672	0.999000	0.42202	0.955000	0.39395	0.168000	0.22595	5.635000	0.67841	2.265000	0.75225	0.491000	0.48974	TCC	OR5AU1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000169327		0.532	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AU1	HGNC	protein_coding	OTTHUMT00000410213.1	-	0.00	70	0	G			21623832	-1	tier1	-	no_errors	ENST00000304418	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T
OR5L1	219437	genome.wustl.edu	37	11	55579776	55579776	+	Silent	SNP	C	C	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr11:55579776C>T	ENST00000333973.2	+	1	923	c.834C>T	c.(832-834)taC>taT	p.Y278Y		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y278*(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CCGTGTTCTACACAGTCGTGA	0.453																																																	1	Substitution - Nonsense(1)	lung(1)											73.0	68.0	70.0					11																	55579776		2200	4296	6496	SO:0001819	synonymous_variant	0			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.834C>T	11.37:g.55579776C>T			B2RNK6|Q6IFD0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y278	ENST00000333973.2	37	c.834	CCDS31509.1	11																																																																																			OR5L1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000186117		0.453	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	HGNC	protein_coding	OTTHUMT00000391514.1		0.00	25	0	C	NM_001004738		55579776	+1			no_errors	ENST00000333973	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.252	T
PBX2P1	5088	genome.wustl.edu	37	3	142897268	142897269	+	RNA	INS	-	-	TTGT	rs71140428|rs150105838		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr3:142897268_142897269insTTGT	ENST00000560287.1	+	0	2142_2143									pre-B-cell leukemia homeobox 2 pseudogene 1																		GGGGAAGTAGCTTGtttttttt	0.322																																																	0																																												0					3q24	2014-03-25	2007-01-30	2007-01-30	ENSG00000244171	ENSG00000244171		"""Homeoboxes / TALE class"""	8635	pseudogene	pseudogene			"""pre-B-cell leukemia transcription factor pseudogene 1"""	PBX2, PBXP1		1682799	Standard	NG_002434		Approved				OTTHUMG00000159350		3.37:g.142897269_142897272dupTTGT				RNA	INS	-	NULL	ENST00000560287.1	37	NULL		3																																																																																			PBX2P1	-	-	ENSG00000244171		0.322	PBX2P1-002	KNOWN	basic	processed_transcript	PBX2P1	HGNC	pseudogene	OTTHUMT00000417717.1		0.00	8	0	0	NG_002434		142897269	+1			no_errors	ENST00000560287	ensembl	human	known	74_37	rna	33.33	8	4	INS	0.430:0.352	TTGT
POLR1A	25885	genome.wustl.edu	37	2	86271375	86271375	+	Missense_Mutation	SNP	G	G	A	rs552830269		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr2:86271375G>A	ENST00000263857.6	-	22	3400	c.3022C>T	c.(3022-3024)Cgt>Tgt	p.R1008C	POLR1A_ENST00000409681.1_Missense_Mutation_p.R1008C			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1008					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCACTGTCACGGACCGTGAGA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		17694	0.0		0.0	False		,,,				2504	0.001																0													100.0	111.0	107.0					2																	86271375		2146	4248	6394	SO:0001583	missense	0			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3022C>T	2.37:g.86271375G>A	ENSP00000263857:p.Arg1008Cys		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.R1008C	ENST00000263857.6	37	c.3022	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981124	0.34942	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.74106	-0.81;-0.81	5.69	5.69	0.88448	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.91848	0.7420	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94171	0.7423	10	0.87932	D	0	-18.1698	19.8154	0.96566	0.0:0.0:1.0:0.0	.	374;1008	B7Z8X7;O95602	.;RPA1_HUMAN	C	1008	ENSP00000263857:R1008C;ENSP00000386300:R1008C	ENSP00000263857:R1008C	R	-	1	0	POLR1A	86124886	1.000000	0.71417	0.985000	0.45067	0.062000	0.15995	3.988000	0.56951	2.699000	0.92147	0.655000	0.94253	CGT	POLR1A	-	pfam_RNA_pol_Rpb1_5	ENSG00000068654		0.607	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2		0.00	35	0	G	NM_015425		86271375	-1			no_errors	ENST00000263857	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A
RNLS	55328	genome.wustl.edu	37	10	90122415	90122415	+	Silent	SNP	G	G	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr10:90122415G>T	ENST00000331772.4	-	5	616	c.594C>A	c.(592-594)ctC>ctA	p.L198L	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Silent_p.L115L|RNLS_ENST00000371947.3_Silent_p.L198L	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	198					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CTTCATAAAAGAGGCCCAGAG	0.453																																																	0													119.0	110.0	113.0					10																	90122415		2203	4300	6503	SO:0001819	synonymous_variant	0			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.594C>A	10.37:g.90122415G>T			Q9BS33|Q9NUP8	Silent	SNP	pfam_Amino_oxidase	p.L198	ENST00000331772.4	37	c.594	CCDS31239.1	10																																																																																			RNLS	-	pfam_Amino_oxidase	ENSG00000184719		0.453	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNLS	HGNC	protein_coding	OTTHUMT00000049250.1		0.00	25	0	G	NM_018363		90122415	-1			no_errors	ENST00000331772	ensembl	human	known	74_37	silent	5.00	37	2	SNP	1.000	T
RP1	6101	genome.wustl.edu	37	8	55537883	55537883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr8:55537883G>T	ENST00000220676.1	+	4	1589	c.1441G>T	c.(1441-1443)Gga>Tga	p.G481*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	481					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.G481*(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAAATGATTGGACAGTTTTC	0.388																																					Colon(91;1014 1389 7634 14542 40420)												1	Substitution - Nonsense(1)	endometrium(1)											70.0	70.0	70.0					8																	55537883		2203	4300	6503	SO:0001587	stop_gained	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1441G>T	8.37:g.55537883G>T	ENSP00000220676:p.Gly481*			Nonsense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.G481*	ENST00000220676.1	37	c.1441	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.318120	0.95682	.	.	ENSG00000104237	ENST00000220676	.	.	.	3.95	-1.58	0.08479	.	0.731884	0.11790	N	0.529298	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	9.3328	0.38032	0.4674:0.0:0.5326:0.0	.	.	.	.	X	481	.	ENSP00000220676:G481X	G	+	1	0	RP1	55700436	1.000000	0.71417	0.008000	0.14137	0.993000	0.82548	1.266000	0.33039	-0.844000	0.04184	0.655000	0.94253	GGA	RP1	-	NULL	ENSG00000104237		0.388	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2		0.00	37	0	G	NM_006269		55537883	+1			no_errors	ENST00000220676	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	0.604	T
SERPINA13P	388007	genome.wustl.edu	37	14	95108116	95108116	+	RNA	SNP	G	G	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr14:95108116G>T	ENST00000469935.1	+	0	721					NR_015340.1		Q6UXR4	SPA13_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)										AGAGCCTAGAGGAGGCCCAAA	0.632																																																	0													68.0	80.0	76.0					14																	95108116		2203	4300	6503			0			AY358238		14q32.13	2014-02-18	2012-10-03	2012-10-03	ENSG00000187483	ENSG00000187483		"""Serine (or cysteine) peptidase inhibitors"""	30909	pseudogene	pseudogene			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"""	SERPINA13		15014966, 16395595, 24172014	Standard	NR_015340		Approved	UNQ6121	uc001ydt.3	Q6UXR4	OTTHUMG00000150191		14.37:g.95108116G>T				RNA	SNP	-	NULL	ENST00000469935.1	37	NULL		14																																																																																			SERPINA13P	-	-	ENSG00000187483		0.632	SERPINA13P-002	KNOWN	basic	processed_transcript	SERPINA13P	HGNC	pseudogene	OTTHUMT00000316754.1	-	0.00	38	0	G	NR_015340		95108116	+1	tier1	-	no_errors	ENST00000469935	ensembl	human	known	74_37	rna	12.90	27	4	SNP	0.001	T
SMIM11	54065	genome.wustl.edu	37	21	35774492	35774492	+	3'UTR	DEL	T	T	-	rs534668511	byFrequency	TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr21:35774492delT	ENST00000399299.1	+	0	450				AP000322.54_ENST00000410005.1_5'Flank|SMIM11_ENST00000481710.1_3'UTR			P58511	SIM11_HUMAN	small integral membrane protein 11							integral component of membrane (GO:0016021)											TGGAGGAGGATTTTTTTTTTT	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC015596	CCDS33550.1	21q22.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000205670	ENSG00000205670			1293	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 51"", ""family with sequence similarity 165, member B"""	C21orf51, FAM165B			Standard	NM_058182		Approved		uc002ytu.4	P58511	OTTHUMG00000086193	ENST00000399299.1:c.*98T>-	21.37:g.35774492delT				RNA	DEL	-	NULL	ENST00000399299.1	37	NULL		21																																																																																			SMIM11	-	-	ENSG00000205670		0.373	SMIM11-002	PUTATIVE	basic|exp_conf	protein_coding	SMIM11	HGNC	protein_coding	OTTHUMT00000194076.1		0.00	24	0	T	NM_058182		35774492	+1	tier1		no_errors	ENST00000481710	ensembl	human	known	74_37	rna	17.86	23	5	DEL	0.002	-
ACOT8	10005	genome.wustl.edu	37	20	44470649	44470649	+	Intron	DEL	T	T	-	rs370136124		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr20:44470649delT	ENST00000217455.4	-	6	932				SNX21_ENST00000342644.5_Intron|SNX21_ENST00000344780.4_3'UTR	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8						acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CCAAATACACttttttttttt	0.567																																																	0													49.0	75.0	66.0					20																	44470649		1327	2309	3636	SO:0001627	intron_variant	0			AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.842-54A>-	20.37:g.44470649delT			O15261|Q17RX4	RNA	DEL	-	NULL	ENST00000217455.4	37	NULL	CCDS13378.1	20																																																																																			SNX21	-	-	ENSG00000124104		0.567	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX21	HGNC	protein_coding	OTTHUMT00000080338.2		0.00	38	0	T	NM_183386		44470649	+1	tier1		no_errors	ENST00000344780	ensembl	human	known	74_37	rna	18.52	22	5	DEL	0.017	-
STYK1	55359	genome.wustl.edu	37	12	10772915	10772915	+	Missense_Mutation	SNP	C	C	T	rs189204525		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr12:10772915C>T	ENST00000075503.3	-	11	1617	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	366	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R366H(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GTCAGCCTCACGCCAGCGCCA	0.532										HNSCC(73;0.22)			C|||	1	0.000199681	0.0	0.0014	5008	,	,		18681	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											119.0	124.0	122.0					12																	10772915		2203	4300	6503	SO:0001583	missense	0			AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.1097G>A	12.37:g.10772915C>T	ENSP00000075503:p.Arg366His		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R366H	ENST00000075503.3	37	c.1097	CCDS8629.1	12	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	8.874	0.950067	0.18431	.	.	ENSG00000060140	ENST00000075503	T	0.69435	-0.4	5.28	2.5	0.30297	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.473046	0.23211	N	0.050673	T	0.50752	0.1634	L	0.33668	1.02	0.25321	N	0.989118	B	0.02656	0.0	B	0.04013	0.001	T	0.38887	-0.9640	10	0.40728	T	0.16	-0.2889	7.4085	0.27004	0.0:0.6522:0.0:0.3478	.	366	Q6J9G0	STYK1_HUMAN	H	366	ENSP00000075503:R366H	ENSP00000075503:R366H	R	-	2	0	STYK1	10664182	0.010000	0.17322	0.998000	0.56505	0.225000	0.24961	-0.675000	0.05227	0.241000	0.21283	-0.244000	0.11960	CGT	STYK1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000060140		0.532	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STYK1	HGNC	protein_coding	OTTHUMT00000399622.1		0.00	32	0	C	NM_018423		10772915	-1			no_errors	ENST00000075503	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.998	T
SUCLG1	8802	genome.wustl.edu	37	2	84668530	84668530	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr2:84668530delA	ENST00000393868.2	-	4	582	c.372delT	c.(370-372)tttfs	p.F124fs		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	124					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CAGCAGCAGCAAAAGGCGGAG	0.438																																					Ovarian(48;203 1101 37206 40305 50790)												0													68.0	68.0	68.0					2																	84668530		2203	4300	6503	SO:0001589	frameshift_variant	0			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"""succinate-CoA ligase, GDP-forming, alpha subunit"""			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.372delT	2.37:g.84668530delA	ENSP00000377446:p.Phe124fs		Q9BWB0|Q9UNP6	Frame_Shift_Del	DEL	pfam_CoA-bd,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_CoA_lig_alpha,prints_CoA_lig_alpha,tigrfam_CoA_lig_alpha	p.F124fs	ENST00000393868.2	37	c.372	CCDS1967.2	2																																																																																			SUCLG1	-	pfam_CoA-bd,smart_CoA-bd,pirsf_CoA_lig_alpha,tigrfam_CoA_lig_alpha	ENSG00000163541		0.438	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCLG1	HGNC	protein_coding	OTTHUMT00000252298.2		0.00	24	0	A	NM_003849		84668530	-1	tier1		no_errors	ENST00000393868	ensembl	human	known	74_37	frame_shift_del	8.00	23	2	DEL	1.000	-
TDRD6	221400	genome.wustl.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																																	0																																										SO:0001589	frameshift_variant	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.M1520fs	ENST00000316081.6	37	c.4549_4550	CCDS34470.1	6																																																																																			TDRD6	-	pfam_Tudor	ENSG00000180113		0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1		0.00	27	0	-	XM_166443		46660415	+1	tier1		no_errors	ENST00000316081	ensembl	human	known	74_37	frame_shift_ins	9.38	29	3	INS	0.002:0.009	A
TEP1	7011	genome.wustl.edu	37	14	20851740	20851740	+	Silent	SNP	G	G	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr14:20851740G>T	ENST00000262715.5	-	26	3814	c.3774C>A	c.(3772-3774)ggC>ggA	p.G1258G	TEP1_ENST00000545983.1_5'Flank|TEP1_ENST00000556935.1_Silent_p.G1150G	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1258	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCTGGGTCTGGCCAGGATGCA	0.577																																																	0													46.0	47.0	46.0					14																	20851740		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3774C>A	14.37:g.20851740G>T			A0AUV9	Silent	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1258	ENST00000262715.5	37	c.3774	CCDS9548.1	14																																																																																			TEP1	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase	ENSG00000129566		0.577	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	-	0.00	33	0	G	NM_007110		20851740	-1	tier1	-	no_errors	ENST00000262715	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.999	T
TRMT11	60487	genome.wustl.edu	37	6	126333975	126333975	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr6:126333975G>T	ENST00000334379.5	+	10	1105	c.984G>T	c.(982-984)aaG>aaT	p.K328N	TRMT11_ENST00000368332.3_Missense_Mutation_p.K328N	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	328					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		AGATACCAAAGGGGATAGAAA	0.383																																																	0													113.0	118.0	117.0					6																	126333975		2203	4300	6503	SO:0001583	missense	0			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.984G>T	6.37:g.126333975G>T	ENSP00000333934:p.Lys328Asn		E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11,prints_N12N6_MeTrfase	p.K328N	ENST00000334379.5	37	c.984	CCDS35496.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.17|11.17	1.560146|1.560146	0.27827|0.27827	.|.	.|.	ENSG00000066651|ENSG00000066651	ENST00000453993|ENST00000334379;ENST00000368332	.|T;T	.|0.41065	.|1.01;1.01	5.83|5.83	1.57|1.57	0.23409|0.23409	.|.	.|0.090866	.|0.85682	.|D	.|0.000000	T|T	0.22936|0.22936	0.0554|0.0554	L|L	0.36672|0.36672	1.1|1.1	0.46586|0.46586	D|D	0.99911|0.99911	.|B;P	.|0.52577	.|0.034;0.954	.|B;P	.|0.54856	.|0.026;0.762	T|T	0.05007|0.05007	-1.0912|-1.0912	5|10	.|0.18710	.|T	.|0.47	-10.611|-10.611	6.1128|6.1128	0.20110|0.20110	0.5729:0.0:0.4271:0.0|0.5729:0.0:0.4271:0.0	.|.	.|328;328	.|Q7Z4G4-2;Q7Z4G4	.|.;TRM11_HUMAN	W|N	127|328	.|ENSP00000333934:K328N;ENSP00000357316:K328N	.|ENSP00000333934:K328N	G|K	+|+	1|3	0|2	TRMT11|TRMT11	126375668|126375668	0.995000|0.995000	0.38212|0.38212	0.997000|0.997000	0.53966|0.53966	0.986000|0.986000	0.74619|0.74619	0.981000|0.981000	0.29526|0.29526	0.396000|0.396000	0.25283|0.25283	-0.140000|-0.140000	0.14226|0.14226	GGG|AAG	TRMT11	-	pirsf_tRNA_mtfrase_TRM11	ENSG00000066651		0.383	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT11	HGNC	protein_coding		-	0.00	47	0	G	NM_021820		126333975	+1	tier1	-	no_errors	ENST00000334379	ensembl	human	known	74_37	missense	9.38	28	3	SNP	0.645	T
TTI2	80185	genome.wustl.edu	37	8	33357912	33357912	+	Missense_Mutation	SNP	G	G	T	rs145192530		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr8:33357912G>T	ENST00000431156.2	-	7	1974	c.1356C>A	c.(1354-1356)agC>agA	p.S452R	TTI2_ENST00000360742.5_Missense_Mutation_p.S452R|TTI2_ENST00000520636.1_Missense_Mutation_p.S421R|MAK16_ENST00000360128.6_3'UTR|TTI2_ENST00000519356.1_5'UTR	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	452																	GTAGCAGGGCGCTCTTAACAG	0.512																																																	0													102.0	88.0	93.0					8																	33357912		2203	4300	6503	SO:0001583	missense	0			AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.1356C>A	8.37:g.33357912G>T	ENSP00000411169:p.Ser452Arg		D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	pfam_DUF2454,superfamily_ARM-type_fold	p.S452R	ENST00000431156.2	37	c.1356	CCDS6090.1	8	.	.	.	.	.	.	.	.	.	.	G	1.568	-0.535000	0.04082	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636	T;T;T	0.54675	0.56;0.56;0.56	5.27	-10.5	0.00291	.	1.276350	0.04829	N	0.438355	T	0.36991	0.0987	M	0.63428	1.95	0.09310	N	1	P;P	0.39551	0.532;0.678	B;B	0.31495	0.063;0.131	T	0.11665	-1.0578	10	0.27785	T	0.31	-5.0E-4	6.728	0.23367	0.1075:0.2103:0.5346:0.1476	.	452;421	Q6NXR4;E5RIH5	TTI2_HUMAN;.	R	452;452;441;421	ENSP00000353971:S452R;ENSP00000411169:S452R;ENSP00000428401:S421R	ENSP00000353971:S452R	S	-	3	2	C8orf41	33477454	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-6.745000	0.00055	-2.770000	0.00365	-1.474000	0.01003	AGC	TTI2	-	superfamily_ARM-type_fold	ENSG00000129696		0.512	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI2	HGNC	protein_coding	OTTHUMT00000376555.1	-	0.00	80	0	G	NM_025115		33357912	-1	tier1	-	no_errors	ENST00000360742	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	T
TTN	7273	genome.wustl.edu	37	2	179398098	179398098	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr2:179398098C>A	ENST00000591111.1	-	308	98545	c.98321G>T	c.(98320-98322)gGc>gTc	p.G32774V	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G25475V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G25542V|TTN_ENST00000460472.2_Missense_Mutation_p.G25350V|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G34415V|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G31847V|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32774	Ig-like 145.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAATCCAAGCCTTCATGGAT	0.488																																																	0													75.0	74.0	74.0					2																	179398098		1982	4159	6141	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98321G>T	2.37:g.179398098C>A	ENSP00000465570:p.Gly32774Val		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G31847V	ENST00000591111.1	37	c.95540		2	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869533	0.51588	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.67	5.67	0.87782	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89626	0.6769	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.71674	0.994;0.994;0.994;0.998	D;D;D;D	0.69479	0.944;0.944;0.944;0.964	D	0.91573	0.5273	9	0.87932	D	0	.	19.3646	0.94456	0.0:1.0:0.0:0.0	.	25350;25475;25542;32774	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	31847;25350;25542;25475;25347	ENSP00000343764:G31847V;ENSP00000434586:G25350V;ENSP00000340554:G25542V;ENSP00000352154:G25475V	ENSP00000340554:G25542V	G	-	2	0	TTN	179106344	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	3.729000	0.54999	2.688000	0.91661	0.555000	0.69702	GGC	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	65	0	C	NM_133378		179398098	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A
UBE2D2	7322	genome.wustl.edu	37	5	139006354	139006354	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr5:139006354G>T	ENST00000398733.3	+	7	1038	c.412G>T	c.(412-414)Gct>Tct	p.A138S	UBE2D2_ENST00000253815.2_Missense_Mutation_p.A109S|UBE2D2_ENST00000505548.1_Missense_Mutation_p.A109S|UBE2D2_ENST00000511725.1_Missense_Mutation_p.A109S	NM_003339.2	NP_003330.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	138					cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAACAGAATAGCTCGGGAATG	0.378																																																	0													105.0	106.0	106.0					5																	139006354		2167	4298	6465	SO:0001583	missense	0			L40146	CCDS43369.1, CCDS47275.1	5q31.2	2013-10-18	2011-05-19		ENSG00000131508	ENSG00000131508		"""Ubiquitin-conjugating enzymes E2"""	12475	protein-coding gene	gene with protein product		602962	"""ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181838		Approved	UbcH5B, UBC4	uc003ler.3	P62837	OTTHUMG00000163282	ENST00000398733.3:c.412G>T	5.37:g.139006354G>T	ENSP00000381717:p.Ala138Ser		D3DQC9|P51669|Q3MN78|Q96RP6	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.A138S	ENST00000398733.3	37	c.412	CCDS43369.1	5	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744183	0.49151	.	.	ENSG00000131508	ENST00000511725;ENST00000398733;ENST00000253815;ENST00000398734;ENST00000505548	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.04	5.04	0.67666	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.85301	0.5665	M	0.90595	3.13	0.80722	D	1	B	0.09022	0.002	B	0.40982	0.345	D	0.83484	0.0066	10	0.40728	T	0.16	.	18.5611	0.91100	0.0:0.0:1.0:0.0	.	138	P62837	UB2D2_HUMAN	S	109;138;109;138;109	ENSP00000429613:A109S;ENSP00000381717:A138S;ENSP00000253815:A109S;ENSP00000381718:A138S;ENSP00000424941:A109S	ENSP00000253815:A109S	A	+	1	0	UBE2D2	138986538	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.536000	0.98067	2.608000	0.88229	0.655000	0.94253	GCT	UBE2D2	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD	ENSG00000131508		0.378	UBE2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2D2	HGNC	protein_coding	OTTHUMT00000372454.3	-	0.00	47	0	G	NM_181838		139006354	+1	tier1	-	no_errors	ENST00000398733	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
UBXN6	80700	genome.wustl.edu	37	19	4453480	4453480	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr19:4453480C>T	ENST00000301281.6	-	3	411	c.287G>A	c.(286-288)aGc>aAc	p.S96N	UBXN6_ENST00000394765.3_Missense_Mutation_p.S43N|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	96						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GGCCTCGGGGCTCCCGCTGAC	0.622																																																	0													58.0	51.0	53.0					19																	4453480		2203	4300	6503	SO:0001583	missense	0			AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.287G>A	19.37:g.4453480C>T	ENSP00000301281:p.Ser96Asn		D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX	p.S96N	ENST00000301281.6	37	c.287	CCDS12129.1	19	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244053	0.22796	.	.	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.46063	0.88;0.88	3.75	-3.0	0.05480	.	0.912428	0.09454	N	0.799969	T	0.19127	0.0459	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.25779	-1.0122	10	0.15066	T	0.55	-5.6768	3.5874	0.07975	0.1774:0.3598:0.0:0.4628	.	43;96	Q9BZV1-2;Q9BZV1	.;UBXN6_HUMAN	N	96;43	ENSP00000301281:S96N;ENSP00000378246:S43N	ENSP00000301281:S96N	S	-	2	0	UBXN6	4404480	0.000000	0.05858	0.000000	0.03702	0.474000	0.32979	-0.961000	0.03845	-0.285000	0.09089	-0.339000	0.08088	AGC	UBXN6	-	NULL	ENSG00000167671		0.622	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN6	HGNC	protein_coding	OTTHUMT00000458447.3	-	0.00	19	0	C	NM_025241		4453480	-1	tier1	-	no_errors	ENST00000301281	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.000	T
ZDHHC8P1	150244	genome.wustl.edu	37	22	23733627	23733627	+	RNA	SNP	G	G	A			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr22:23733627G>A	ENST00000255890.4	-	0	1547									zinc finger, DHHC-type containing 8 pseudogene 1																		tcggctcacggcaaactctgc	0.552																																																	0																																												0					22q11.23	2010-02-25	2010-02-25	2010-02-25	ENSG00000133519	ENSG00000133519			26461	pseudogene	pseudogene			"""zinc finger, DHHC-type containing 8 pseudogene"""	ZDHHC8P			Standard	NR_003950		Approved	FLJ31568	uc002zwz.5		OTTHUMG00000150650		22.37:g.23733627G>A				RNA	SNP	-	NULL	ENST00000255890.4	37	NULL		22																																																																																			ZDHHC8P1	-	-	ENSG00000133519		0.552	ZDHHC8P1-001	KNOWN	basic	processed_transcript	ZDHHC8P1	HGNC	pseudogene	OTTHUMT00000319397.1		0.00	22	0	G	NR_003950		23733627	-1			no_errors	ENST00000255890	ensembl	human	known	74_37	rna	15.00	17	3	SNP	0.060	A
ZNF461	92283	genome.wustl.edu	37	19	37128585	37128585	+	IGR	DEL	A	A	-	rs377169661		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr19:37128585delA	ENST00000588268.1	-	0	2584				ZNF461_ENST00000540605.2_5'Flank	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ggtgtgtctcaaaaaaaaaaa	0.408																																																	0																																										SO:0001628	intergenic_variant	0			BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7			19.37:g.37128585delA			A8K9W9|Q6VSF7|Q9ULZ8	RNA	DEL	-	NULL	ENST00000588268.1	37	NULL	CCDS54257.1	19																																																																																			ZNF461	-	-	ENSG00000197808		0.408	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF461	HGNC	protein_coding	OTTHUMT00000453202.1		0.00	27	0	A	NM_153257		37128585	-1	tier1		no_errors	ENST00000589442	ensembl	human	known	74_37	rna	20.69	23	6	DEL	0.035	-
