#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_CAF	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_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
UBQLN2	29978	genome.wustl.edu	37	X	56590760	56590760	+	Missense_Mutation	SNP	G	G	C			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chrX:56590760G>C	ENST00000338222.5	+	1	735	c.454G>C	c.(454-456)Gca>Cca	p.A152P		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	152					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GGGAGGACTTGCAGGCCTTAG	0.562																																					Esophageal Squamous(104;218 1492 6022 10838 28884)		0											0													38.0	38.0	38.0					X																	56590760		2203	4300	6503	SO:0001583	missense	0			AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.454G>C	X.37:g.56590760G>C	ENSP00000345195:p.Ala152Pro		O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.A152P	ENST00000338222.5	37	c.454	CCDS14374.1	X	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225398	0.39300	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.80480	-1.38	4.94	3.06	0.35304	.	0.256360	0.32655	N	0.005812	D	0.83718	0.5315	L	0.55213	1.73	0.44337	D	0.997226	D;D	0.69078	0.997;0.995	P;P	0.62184	0.899;0.854	T	0.80772	-0.1233	10	0.37606	T	0.19	-0.1598	10.7882	0.46417	0.0:0.0:0.6575:0.3425	.	152;152	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	P	152	ENSP00000345195:A152P	ENSP00000345195:A152P	A	+	1	0	UBQLN2	56607485	1.000000	0.71417	0.998000	0.56505	0.516000	0.34256	2.226000	0.42963	0.531000	0.28639	0.600000	0.82982	GCA	0	NULL		0.562	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN2	protein_coding	OTTHUMT00000056891.1	17	51	0	0.00	0	0	G	NM_013444	0	0		56590760	1	no_errors	ENST00000338222	ensembl	human	known	74_37	missense	21	53	19.23	10.17	5	6	SNP	1	C
MAGEA3	4102	genome.wustl.edu	37	X	151935507	151935507	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chrX:151935507T>A	ENST00000393902.3	-	3	1227	c.660A>T	c.(658-660)aaA>aaT	p.K220N	MAGEA3_ENST00000370278.3_Missense_Mutation_p.K220N			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	220	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCCAGATTTTCTCCTCAG	0.542																																							0											0													153.0	151.0	152.0					X																	151935507		2202	4291	6493	SO:0001583	missense	0				CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.660A>T	X.37:g.151935507T>A	ENSP00000377480:p.Lys220Asn		Q6FHI6	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.K220N	ENST00000393902.3	37	c.660	CCDS14715.1	X	.	.	.	.	.	.	.	.	.	.	t	3.120	-0.180811	0.06380	.	.	ENSG00000221867	ENST00000370278;ENST00000393902	T;T	0.05199	3.48;3.48	1.42	-2.84	0.05751	.	3.874540	0.00582	N	0.000335	T	0.06872	0.0175	L	0.55990	1.75	0.09310	N	1	P	0.37594	0.601	B	0.36845	0.234	T	0.15838	-1.0423	10	0.45353	T	0.12	.	0.0669	0.00018	0.2492:0.2094:0.2495:0.2919	.	220	P43357	MAGA3_HUMAN	N	220	ENSP00000359301:K220N;ENSP00000377480:K220N	ENSP00000359301:K220N	K	-	3	2	MAGEA3	151686163	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	-0.551000	0.06027	-1.442000	0.01955	-0.949000	0.02662	AAA	0	pfam_MAGE,pfscan_MAGE		0.542	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA3	protein_coding	OTTHUMT00000058744.1	67	47	0	0.00	0	0	T	NM_005362	0	0		151935507	-1	no_errors	ENST00000370278	ensembl	human	known	74_37	missense	42	25	27.59	52.83	16	28	SNP	0	A
EXOSC10	5394	genome.wustl.edu	37	1	11158195	11158195	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr1:11158195C>A	ENST00000376936.4	-	2	179	c.130G>T	c.(130-132)Gtg>Ttg	p.V44L	EXOSC10_ENST00000304457.7_Missense_Mutation_p.V44L|RP4-635E18.6_ENST00000435388.1_RNA|RP4-635E18.6_ENST00000447600.1_RNA|EXOSC10_ENST00000544779.1_Missense_Mutation_p.V44L	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	44					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V44L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GTGACTGCCACCACGGACCCA	0.448																																					Colon(179;105 1987 14326 27364 29542)		0											1	Substitution - Missense(1)	lung(1)											64.0	61.0	62.0					1																	11158195		2203	4300	6503	SO:0001583	missense	0			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.130G>T	1.37:g.11158195C>A	ENSP00000366135:p.Val44Leu		B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom	p.V44L	ENST00000376936.4	37	c.130	CCDS30584.1	1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371098	0.42003	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	5.73	3.71	0.42584	Exosome-associated factor Rrp6, N-terminal (1);	0.175303	0.48767	N	0.000162	T	0.66557	0.2801	M	0.66506	2.035	0.58432	D	0.999991	B;B	0.16603	0.018;0.011	B;B	0.20577	0.024;0.03	T	0.66874	-0.5813	9	0.46703	T	0.11	-14.9517	17.0718	0.86576	0.0:0.7449:0.2551:0.0	.	44;44	Q01780-2;Q01780	.;EXOSX_HUMAN	L	44	.	ENSP00000307307:V44L	V	-	1	0	EXOSC10	11080782	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	1.719000	0.38011	1.392000	0.46585	0.561000	0.74099	GTG	0	pfam_Exosome-assoc_fac_Rrp6_N		0.448	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOSC10	protein_coding	OTTHUMT00000006078.1	49	240	0	0.00	0	0	C	NM_001001998	0	0		11158195	-1	no_errors	ENST00000376936	ensembl	human	known	74_37	missense	46	219	26.98	17.05	17	45	SNP	1	A
PADI3	51702	genome.wustl.edu	37	1	17592171	17592171	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr1:17592171G>T	ENST00000375460.3	+	4	404	c.364G>T	c.(364-366)Gac>Tac	p.D122Y		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	122					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCTGGATTGCGACCTGAACTG	0.567																																							0											0													175.0	154.0	161.0					1																	17592171		2203	4300	6503	SO:0001583	missense	0			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.364G>T	1.37:g.17592171G>T	ENSP00000364609:p.Asp122Tyr		Q58EY7|Q70SX5	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.D122Y	ENST00000375460.3	37	c.364	CCDS179.1	1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271461	0.59649	.	.	ENSG00000142619	ENST00000375460	T	0.37915	1.17	5.4	5.4	0.78164	Protein-arginine deiminase (PAD), central domain (2);	0.000000	0.85682	D	0.000000	T	0.67608	0.2911	M	0.88979	2.995	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.74453	-0.3660	10	0.87932	D	0	-39.5115	17.7433	0.88413	0.0:0.0:1.0:0.0	.	122	Q9ULW8	PADI3_HUMAN	Y	122	ENSP00000364609:D122Y	ENSP00000364609:D122Y	D	+	1	0	PADI3	17464758	0.999000	0.42202	0.982000	0.44146	0.336000	0.28762	3.237000	0.51344	2.526000	0.85167	0.655000	0.94253	GAC	0	pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub		0.567	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	protein_coding	OTTHUMT00000006805.1	43	167	0	0.00	0	0	G		0	0		17592171	1	no_errors	ENST00000375460	ensembl	human	known	74_37	missense	36	176	18.18	15.79	8	33	SNP	0.998	T
IPP	3652	genome.wustl.edu	37	1	46165728	46165728	+	Silent	SNP	T	T	A			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr1:46165728T>A	ENST00000396478.3	-	9	1767	c.1665A>T	c.(1663-1665)tcA>tcT	p.S555S	RP11-767N6.7_ENST00000430643.1_RNA|IPP_ENST00000495072.1_5'UTR	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	555						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AAACTTCAACTGAGTCCAAGG	0.448																																							0											0													156.0	150.0	152.0					1																	46165728		2203	4300	6503	SO:0001819	synonymous_variant	0			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1665A>T	1.37:g.46165728T>A			A2A6V4|D3DQ11|Q8N5C3	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S555	ENST00000396478.3	37	c.1665	CCDS30702.1	1																																																																																			0	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.448	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	IPP	protein_coding	OTTHUMT00000021974.3	84	209	0	0.00	0	0	T	NM_005897	0	0		46165728	-1	no_errors	ENST00000396478	ensembl	human	known	74_37	silent	87	213	8.42	8.97	8	21	SNP	0.921	A
TP53BP2	7159	genome.wustl.edu	37	1	224002053	224002053	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr1:224002053G>A	ENST00000391878.2	-	0	559				TP53BP2_ENST00000343537.7_Missense_Mutation_p.R60C	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2						cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)	p.R60C(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GCAACTGGACGTTCTAAAGCA	0.383																																							0											1	Substitution - Missense(1)	large_intestine(1)											98.0	96.0	97.0					1																	224002053		1897	4112	6009			0			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000391878.2:c.-210C>T	1.37:g.224002053G>A			B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.R60C	ENST00000391878.2	37	c.178	CCDS1538.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.786413	0.90367	.	.	ENSG00000143514	ENST00000343537	T	0.56776	0.44	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.76424	-0.2964	10	0.87932	D	0	.	19.6333	0.95719	0.0:0.0:1.0:0.0	.	60	B4DG66	.	C	60	ENSP00000341957:R60C	ENSP00000341957:R60C	R	-	1	0	TP53BP2	222068676	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.560000	0.67332	2.654000	0.90174	0.563000	0.77884	CGT	0	NULL		0.383	TP53BP2-002	KNOWN	basic|CCDS	protein_coding	TP53BP2	protein_coding	OTTHUMT00000090986.3	75	246	0	0.40	0	1	G	NM_001031685, NM_005426	0	0		224002053	-1	no_errors	ENST00000343537	ensembl	human	known	74_37	missense	41	225	18	19.86	9	56	SNP	1	A
ATG7	10533	genome.wustl.edu	37	3	11383645	11383646	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	G|A	G|A	G|A	T	G|A	G|A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr3:11383645_11383646GA>TT	ENST00000354449.3	+	11	1042_1043	c.1017_1018GA>TT	c.(1015-1020)ctGAtg>ctTTtg	p.M340L	ATG7_ENST00000446450.2_Missense_Mutation_p.M301L|ATG7_ENST00000354956.5_Missense_Mutation_p.M340L	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	340					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						ATCTCAAACTGATGTGTTGGAG	0.416																																							0											0																																										SO:0001583	missense	0			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	Exception_encountered	3.37:g.11383645_11383646delinsTT	ENSP00000346437:p.Met340Leu		B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Silent|Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7	p.L339|p.M340L	ENST00000354449.3	37	c.1017|c.1018	CCDS2605.1	3																																																																																			0	tigrfam_Atg7		0.416	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG7	protein_coding	OTTHUMT00000251951.3	86|84	237|236	0	0.42|0.00	0	1|0	G|A	NM_006395	0	0		11383645|11383646	1	no_errors	ENST00000354449	ensembl	human	known	74_37	silent|missense	79	201|199	21|20.2	17.62|17.77	21|20	43	SNP	1	T
LRRFIP2	9209	genome.wustl.edu	37	3	37154409	37154409	+	Silent	SNP	T	T	A			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr3:37154409T>A	ENST00000336686.4	-	8	515	c.435A>T	c.(433-435)ctA>ctT	p.L145L	LRRFIP2_ENST00000396428.2_Silent_p.L114L|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000421307.1_Silent_p.L145L			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	145	DVL3-binding.|Ser-rich.				Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						AACTAACCAGTAGGTCTTTAT	0.358																																							0											1	Whole gene deletion(1)	ovary(1)											128.0	128.0	128.0					3																	37154409		2203	4300	6503	SO:0001819	synonymous_variant	0			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.435A>T	3.37:g.37154409T>A			A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Silent	SNP	pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin	p.L145	ENST00000336686.4	37	c.435	CCDS2664.1	3																																																																																			0	NULL		0.358	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	LRRFIP2	protein_coding	OTTHUMT00000253335.3	73	155	0	0.00	0	0	T	NM_006309	0	0		37154409	-1	no_errors	ENST00000336686	ensembl	human	known	74_37	silent	60	221	10.45	16.60	7	44	SNP	0.005	A
DCP1A	55802	genome.wustl.edu	37	3	53324764	53324764	+	Intron	SNP	T	T	C			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr3:53324764T>C	ENST00000480258.1	-	8	1548				Y_RNA_ENST00000384175.1_RNA|RN7SL821P_ENST00000579907.1_RNA|DCP1A_ENST00000607628.1_Intron|DCP1A_ENST00000294241.6_Intron|DCP1A_ENST00000606822.1_Intron			Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		acccgactagtcttaaaaaaa	0.388																																							0											0													11.0	12.0	12.0					3																	53324764		692	1583	2275	SO:0001627	intron_variant	0			AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000480258.1:c.4450+50A>G	3.37:g.53324764T>C			B4DHN9|U3KQM8	RNA	SNP	0	NULL	ENST00000480258.1	37	NULL		3																																																																																			0	0		0.388	DCP1A-001	KNOWN	basic	processed_transcript	ENSG00000206902	protein_coding	OTTHUMT00000350374.2	23	47	0	0.00	0	0	T	NM_018403	0	0		53324764	1	no_errors	ENST00000384175	ensembl	human	novel	74_37	rna	11	34	23.53	12.20	4	5	SNP	0.001	C
PLEKHG4B	153478	genome.wustl.edu	37	5	174164	174164	+	Nonsense_Mutation	SNP	G	G	A	rs370643554		TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr5:174164G>A	ENST00000283426.6	+	16	3335	c.3285G>A	c.(3283-3285)tgG>tgA	p.W1095*		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1095	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAGTGCATGGACCGATGTCA	0.597																																							0											0													52.0	41.0	44.0					5																	174164		2202	4299	6501	SO:0001587	stop_gained	0			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3285G>A	5.37:g.174164G>A	ENSP00000283426:p.Trp1095*			Nonsense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.W1095*	ENST00000283426.6	37	c.3285	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	G	38	6.647501	0.97730	.	.	ENSG00000153404	ENST00000283426	.	.	.	3.38	3.38	0.38709	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2521	0.54603	0.0:0.0:1.0:0.0	.	.	.	.	X	1095	.	ENSP00000283426:W1095X	W	+	3	0	PLEKHG4B	227164	1.000000	0.71417	0.259000	0.24435	0.006000	0.05464	8.000000	0.88501	1.426000	0.47256	0.467000	0.42956	TGG	0	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.597	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	protein_coding	OTTHUMT00000365359.1	27	72	0	0.00	0	0	G	NM_052909	0	0		174164	1	no_errors	ENST00000283426	ensembl	human	known	74_37	nonsense	38	104	11.63	7.14	5	8	SNP	1	A
GPR116	221395	genome.wustl.edu	37	6	46849840	46849840	+	Missense_Mutation	SNP	C	C	T	rs371340398		TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr6:46849840C>T	ENST00000283296.7	-	7	905	c.617G>A	c.(616-618)cGg>cAg	p.R206Q	GPR116_ENST00000456426.2_Missense_Mutation_p.R206Q|GPR116_ENST00000362015.4_Missense_Mutation_p.R206Q|GPR116_ENST00000265417.7_Missense_Mutation_p.R206Q	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	206	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GTAACCCTTCCGGAACTGAAA	0.368																																					NSCLC(59;410 1274 8751 36715 50546)		0											0								C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	126.0	134.0	131.0		617,617	0.1	0.9	6		131	0,8600		0,0,4300	no	missense,missense	GPR116	NM_015234.4,NM_001098518.1	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	206/1347,206/1347	46849840	1,13005	2203	4300	6503	SO:0001583	missense	0			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.617G>A	6.37:g.46849840C>T	ENSP00000283296:p.Arg206Gln		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.R206Q	ENST00000283296.7	37	c.617	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281737	0.23392	2.27E-4	0.0	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.54	0.0613	0.14340	SEA (2);	1.055300	0.07442	N	0.897568	T	0.08802	0.0218	L	0.44542	1.39	0.20638	N	0.999871	B;B;B	0.25169	0.119;0.062;0.119	B;B;B	0.14023	0.01;0.006;0.01	T	0.30238	-0.9985	10	0.25751	T	0.34	1.0021	1.7365	0.02943	0.2998:0.4104:0.1303:0.1595	.	206;206;206	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	Q	206	ENSP00000283296:R206Q;ENSP00000354563:R206Q;ENSP00000412866:R206Q;ENSP00000265417:R206Q	ENSP00000265417:R206Q	R	-	2	0	GPR116	46957799	0.001000	0.12720	0.862000	0.33874	0.463000	0.32649	-1.585000	0.02112	0.062000	0.16340	-0.123000	0.14984	CGG	0	pfam_SEA_dom		0.368	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	protein_coding	OTTHUMT00000040806.2	113	272	0	0.00	0	0	C	NM_015234	rs371340398	C->T		46849840	-1	no_errors	ENST00000265417	ensembl	human	known	74_37	missense	79	250	8.99	5.64	8	15	SNP	0.295	T
HCRTR2	3062	genome.wustl.edu	37	6	55039563	55039563	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr6:55039563G>T	ENST00000370862.3	+	1	514	c.178G>T	c.(178-180)Ggg>Tgg	p.G60W		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	60					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCTGATCGCCGGGTACATCAT	0.597																																							0											0													129.0	110.0	117.0					6																	55039563		2203	4300	6503	SO:0001583	missense	0			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.178G>T	6.37:g.55039563G>T	ENSP00000359899:p.Gly60Trp		Q5VTM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt	p.G60W	ENST00000370862.3	37	c.178	CCDS4956.1	6	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684667	0.88639	.	.	ENSG00000137252	ENST00000370862	T	0.37058	1.22	5.01	5.01	0.66863	.	0.063901	0.64402	D	0.000006	T	0.39462	0.1079	L	0.47716	1.5	0.80722	D	1	D	0.61080	0.989	P	0.55824	0.785	T	0.21724	-1.0237	10	0.51188	T	0.08	.	18.3499	0.90335	0.0:0.0:1.0:0.0	.	60	O43614	OX2R_HUMAN	W	60	ENSP00000359899:G60W	ENSP00000359899:G60W	G	+	1	0	HCRTR2	55147522	1.000000	0.71417	0.967000	0.41034	0.996000	0.88848	9.401000	0.97294	2.323000	0.78572	0.563000	0.77884	GGG	0	prints_GPCR_Rhodpsn		0.597	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	protein_coding	OTTHUMT00000043392.1	65	197	0	0.51	0	1	G		0	0		55039563	1	no_errors	ENST00000370862	ensembl	human	known	74_37	missense	74	166	21.28	23.50	20	51	SNP	0.997	T
NOD1	10392	genome.wustl.edu	37	7	30491267	30491267	+	Missense_Mutation	SNP	T	T	C	rs138046644		TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr7:30491267T>C	ENST00000222823.4	-	6	2291	c.1766A>G	c.(1765-1767)aAc>aGc	p.N589S		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	589					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CAGGAAGAGGTTGGTGAACTG	0.607																																							0											0								T	SER/ASN	0,4406		0,0,2203	50.0	57.0	54.0		1766	5.5	1.0	7	dbSNP_134	54	3,8597	3.0+/-9.4	0,3,4297	yes	missense	NOD1	NM_006092.2	46	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	probably-damaging	589/954	30491267	3,13003	2203	4300	6503	SO:0001583	missense	0			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1766A>G	7.37:g.30491267T>C	ENSP00000222823:p.Asn589Ser		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.N589S	ENST00000222823.4	37	c.1766	CCDS5427.1	7	.	.	.	.	.	.	.	.	.	.	T	14.71	2.617599	0.46736	0.0	3.49E-4	ENSG00000106100	ENST00000222823	T	0.70282	-0.47	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.79747	0.4499	L	0.58669	1.825	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.75875	-0.3163	10	0.17832	T	0.49	.	14.7195	0.69294	0.0:0.0:0.0:1.0	.	589	Q9Y239	NOD1_HUMAN	S	589	ENSP00000222823:N589S	ENSP00000222823:N589S	N	-	2	0	NOD1	30457792	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.099000	0.71466	2.079000	0.62486	0.533000	0.62120	AAC	0	NULL		0.607	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	protein_coding	OTTHUMT00000250443.2	42	156	2.27	0.00	1	0	T		rs138046644	T->C		30491267	-1	no_errors	ENST00000222823	ensembl	human	known	74_37	missense	44	160	8.33	6.94	4	12	SNP	1	C
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	419	103	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	342	121	18.14	13.57	76	19	SNP	1	A
ABHD17B	51104	genome.wustl.edu	37	9	74481855	74481855	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr9:74481855C>A	ENST00000333421.6	-	4	826	c.715G>T	c.(715-717)Gac>Tac	p.D239Y	ABHD17B_ENST00000377041.2_Missense_Mutation_p.D239Y	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	239						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										TGTGAAAAGTCAATGACTTCA	0.428																																							0											0													83.0	78.0	80.0					9																	74481855		2203	4300	6503	SO:0001583	missense	0			AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.715G>T	9.37:g.74481855C>A	ENSP00000330222:p.Asp239Tyr		A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Dienelactn_hydro	p.D239Y	ENST00000333421.6	37	c.715	CCDS35043.1	9	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157691	0.78114	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.44482	0.92;0.92	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.71921	0.3397	M	0.88775	2.98	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71414	0.973;0.955	T	0.75988	-0.3123	10	0.87932	D	0	-13.0149	20.3668	0.98882	0.0:1.0:0.0:0.0	.	239;239	Q5VST6;Q5VST6-2	F108B_HUMAN;.	Y	239	ENSP00000366240:D239Y;ENSP00000330222:D239Y	ENSP00000330222:D239Y	D	-	1	0	FAM108B1	73671675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.701000	0.84566	2.894000	0.99253	0.655000	0.94253	GAC	0	pfam_Peptidase_S9,pfam_Dienelactn_hydro		0.428	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABHD17B	protein_coding	OTTHUMT00000052625.1	54	210	0	0.47	0	1	C	NM_016014	0	0		74481855	-1	no_errors	ENST00000377041	ensembl	human	known	74_37	missense	62	197	11.43	6.64	8	14	SNP	1	A
PHRF1	57661	genome.wustl.edu	37	11	609650	609650	+	Silent	SNP	C	C	T			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr11:609650C>T	ENST00000264555.5	+	14	4322	c.4194C>T	c.(4192-4194)gcC>gcT	p.A1398A	PHRF1_ENST00000416188.2_Silent_p.A1397A|PHRF1_ENST00000533464.1_Silent_p.A1394A|PHRF1_ENST00000413872.2_Silent_p.A1396A	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1398					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGTCCAGAGCCCTGGTGAAGC	0.706																																							0											0													11.0	17.0	15.0					11																	609650		1979	4134	6113	SO:0001819	synonymous_variant	0			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.4194C>T	11.37:g.609650C>T			A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.A1398	ENST00000264555.5	37	c.4194		11																																																																																			0	NULL		0.706	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	protein_coding	OTTHUMT00000382133.1	34	72	0	0.00	0	0	C	NM_020901	0	0		609650	1	no_errors	ENST00000264555	ensembl	human	known	74_37	silent	30	51	16.67	17.74	6	11	SNP	0.046	T
PLEKHA7	144100	genome.wustl.edu	37	11	16809631	16809631	+	3'UTR	SNP	A	A	G			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr11:16809631A>G	ENST00000355661.3	-	0	4379				PLEKHA7_ENST00000448080.2_3'UTR|PLEKHA7_ENST00000531066.1_Intron|PLEKHA7_ENST00000332954.4_5'UTR			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7						epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GTCCCTGTCTACTGTCCAGGT	0.443											OREG0020804	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0																																										SO:0001624	3_prime_UTR_variant	0			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.*1003T>C	11.37:g.16809631A>G		713	B4DK33|B4DWC3|Q86VZ7	RNA	SNP	0	NULL	ENST00000355661.3	37	NULL	CCDS31434.1	11																																																																																			0	0		0.443	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA7	protein_coding	OTTHUMT00000387242.2	34	187	0	0.00	0	0	A	NM_175058	0	0		16809631	-1	no_errors	ENST00000332954	ensembl	human	known	74_37	rna	16	232	23.81	20.00	5	58	SNP	0	G
ATG13	9776	genome.wustl.edu	37	11	46671828	46671828	+	Missense_Mutation	SNP	T	T	G			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr11:46671828T>G	ENST00000434074.1	+	6	1108	c.419T>G	c.(418-420)cTc>cGc	p.L140R	ATG13_ENST00000526508.1_Missense_Mutation_p.L140R|ATG13_ENST00000524625.1_Missense_Mutation_p.L140R|ATG13_ENST00000528494.1_Missense_Mutation_p.L140R|ATG13_ENST00000359513.4_Missense_Mutation_p.L140R|ATG13_ENST00000451945.1_Missense_Mutation_p.L140R|ATG13_ENST00000312040.4_Missense_Mutation_p.L140R|ATG13_ENST00000530500.1_Missense_Mutation_p.L61R|ATG13_ENST00000529655.1_Missense_Mutation_p.L140R	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	140					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						GCCTATAGGCTCTCCAGGAAA	0.418																																							0											0													136.0	128.0	130.0					11																	46671828		2201	4299	6500	SO:0001583	missense	0			AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.419T>G	11.37:g.46671828T>G	ENSP00000400642:p.Leu140Arg		B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	pfam_Autophagy-rel_p13	p.L140R	ENST00000434074.1	37	c.419	CCDS44582.1	11	.	.	.	.	.	.	.	.	.	.	T	26.9	4.783557	0.90282	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000526078	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.79240	0.4412	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.995;0.999;0.999	T	0.81901	-0.0720	9	0.87932	D	0	-1.153	15.882	0.79211	0.0:0.0:0.0:1.0	.	61;140;140;140	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	R	140;140;140;140;140;61;140;140;140;140;140	.	ENSP00000310321:L140R	L	+	2	0	ATG13	46628404	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.008000	0.88588	2.155000	0.67459	0.533000	0.62120	CTC	0	pfam_Autophagy-rel_p13		0.418	ATG13-202	KNOWN	basic|CCDS	protein_coding	ATG13	protein_coding	OTTHUMT00000390300.2	60	220	0	0.00	0	0	T	NM_014741	0	0		46671828	1	no_errors	ENST00000312040	ensembl	human	known	74_37	missense	51	211	7.27	5.80	4	13	SNP	1	G
GRIA4	2893	genome.wustl.edu	37	11	105623710	105623710	+	Missense_Mutation	SNP	G	G	A	rs557011356		TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr11:105623710G>A	ENST00000530497.1	+	3	251	c.251G>A	c.(250-252)tGt>tAt	p.C84Y	GRIA4_ENST00000393125.2_Missense_Mutation_p.C84Y|GRIA4_ENST00000282499.5_Missense_Mutation_p.C84Y|GRIA4_ENST00000393127.2_Missense_Mutation_p.C84Y|GRIA4_ENST00000428631.2_Missense_Mutation_p.C84Y|GRIA4_ENST00000525187.1_Missense_Mutation_p.C84Y			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	84					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GTTTCAGTCTGTTCCCAGTAT	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20510	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													140.0	135.0	137.0					11																	105623710		2202	4299	6501	SO:0001583	missense	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.251G>A	11.37:g.105623710G>A	ENSP00000435775:p.Cys84Tyr		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.C84Y	ENST00000530497.1	37	c.251	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472481	0.84640	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95	5.51	5.51	0.81932	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	T	0.51092	0.1654	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.53927	-0.8369	10	0.87932	D	0	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	84;84;114;84	P48058;G3V164;Q59GL7;Q86XE8	GRIA4_HUMAN;.;.;.	Y	84	ENSP00000376833:C84Y;ENSP00000282499:C84Y;ENSP00000376835:C84Y;ENSP00000415551:C84Y;ENSP00000432443:C84Y;ENSP00000435775:C84Y;ENSP00000432180:C84Y	ENSP00000282499:C84Y	C	+	2	0	GRIA4	105128920	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.600000	0.87896	0.655000	0.94253	TGT	0	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.368	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	protein_coding	OTTHUMT00000388593.1	55	216	0	0.00	0	0	G		rs557011356	G->A		105623710	1	no_errors	ENST00000282499	ensembl	human	known	74_37	missense	40	262	11.11	7.42	5	21	SNP	1	A
DYRK4	8798	genome.wustl.edu	37	12	4714232	4714232	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr12:4714232C>T	ENST00000540757.2	+	9	1094	c.934C>T	c.(934-936)Cag>Tag	p.Q312*	DYRK4_ENST00000545342.1_5'UTR|DYRK4_ENST00000010132.5_Nonsense_Mutation_p.Q312*|DYRK4_ENST00000543431.1_Nonsense_Mutation_p.Q312*|RP11-500M8.7_ENST00000536588.1_Silent_p.S41S	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	312	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TGAGGTGGAGCAGCTGGCCTG	0.672											OREG0021598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													51.0	46.0	48.0					12																	4714232		2203	4300	6503	SO:0001587	stop_gained	0			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.934C>T	12.37:g.4714232C>T	ENSP00000441755:p.Gln312*	620	A8K8F7|Q8NEF2|Q92631	Nonsense_Mutation	SNP	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,pfscan_Prot_kinase_dom	p.Q312*	ENST00000540757.2	37	c.934	CCDS8530.1	12	.	.	.	.	.	.	.	.	.	.	C	40	8.466790	0.98825	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2186	0.93788	0.0:1.0:0.0:0.0	.	.	.	.	X	427;312;312;312	.	ENSP00000010132:Q312X	Q	+	1	0	DYRK4	4584493	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.698000	0.84413	2.642000	0.89623	0.555000	0.69702	CAG	0	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.672	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK4	protein_coding	OTTHUMT00000398780.2	24	126	0	0.00	0	0	C		0	0		4714232	1	no_errors	ENST00000010132	ensembl	human	known	74_37	nonsense	14	124	36.36	17.33	8	26	SNP	1	T
OLFM4	10562	genome.wustl.edu	37	13	53608550	53608550	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr13:53608550A>G	ENST00000219022.2	+	2	350	c.272A>G	c.(271-273)gAc>gGc	p.D91G		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	91					cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TCCCTGCCAGACACCACCTTT	0.443																																							0											0													127.0	107.0	114.0					13																	53608550		2203	4300	6503	SO:0001583	missense	0			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.272A>G	13.37:g.53608550A>G	ENSP00000219022:p.Asp91Gly		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like	p.D91G	ENST00000219022.2	37	c.272	CCDS9440.1	13	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904358	0.52333	.	.	ENSG00000102837	ENST00000219022	D	0.90444	-2.67	5.28	5.28	0.74379	.	0.271717	0.36034	N	0.002838	D	0.90113	0.6911	M	0.77820	2.39	0.48975	D	0.999734	B	0.25351	0.124	B	0.22152	0.038	D	0.88468	0.3060	10	0.54805	T	0.06	.	13.747	0.62881	1.0:0.0:0.0:0.0	.	91	Q6UX06	OLFM4_HUMAN	G	91	ENSP00000219022:D91G	ENSP00000219022:D91G	D	+	2	0	OLFM4	52506551	1.000000	0.71417	0.446000	0.26920	0.864000	0.49448	6.336000	0.72954	2.126000	0.65437	0.533000	0.62120	GAC	0	NULL		0.443	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM4	protein_coding	OTTHUMT00000045112.2	63	234	0	0.00	0	0	A	NM_006418	0	0		53608550	1	no_errors	ENST00000219022	ensembl	human	known	74_37	missense	44	179	30.16	17.51	19	38	SNP	0.839	G
GPRC5B	51704	genome.wustl.edu	37	16	19883616	19883616	+	Silent	SNP	G	G	A			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr16:19883616G>A	ENST00000300571.2	-	2	743	c.552C>T	c.(550-552)acC>acT	p.T184T	GPRC5B_ENST00000535671.1_Silent_p.T184T|GPRC5B_ENST00000569847.1_Silent_p.T184T|GPRC5B_ENST00000537135.1_Silent_p.T210T|GPRC5B_ENST00000569479.1_Silent_p.T184T	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	184					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CACGCAGCACGGTGAGCACCA	0.652																																							0											0													66.0	55.0	59.0					16																	19883616		2197	4300	6497	SO:0001819	synonymous_variant	0			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.552C>T	16.37:g.19883616G>A			D2DFB0|O75205|Q8NBZ8	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.T210	ENST00000300571.2	37	c.630	CCDS10581.1	16																																																																																			0	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.652	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5B	protein_coding	OTTHUMT00000254285.1	34	46	0	0.00	0	0	G		0	0		19883616	-1	no_errors	ENST00000537135	ensembl	human	known	74_37	silent	59	56	7.81	13.85	5	9	SNP	0.033	A
CTCF	10664	genome.wustl.edu	37	16	67670755	67670755	+	Splice_Site	SNP	G	G	T			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr16:67670755G>T	ENST00000264010.4	+	11	2443		c.e11+1		CTCF_ENST00000401394.1_Splice_Site	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)						chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CAGAACCAGCGTAAGTTGTTC	0.602																																					Colon(175;1200 1966 6945 23069 27405)		0											0													98.0	100.0	99.0					16																	67670755		2198	4300	6498	SO:0001630	splice_region_variant	0			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1999+1G>T	16.37:g.67670755G>T			B5MC38|Q53XI7|Q59EL8	Splice_Site	SNP	0	e9+1	ENST00000264010.4	37	c.1999+1	CCDS10841.1	16	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796904	0.90453	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7374	0.91761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTCF	66228256	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.780000	0.75063	2.861000	0.98227	0.655000	0.94253	.	0	0		0.602	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTCF	protein_coding	OTTHUMT00000268870.2	38	186	0	0.00	0	0	G	NM_006565	0	0	Intron	67670755	1	no_errors	ENST00000264010	ensembl	human	known	74_37	splice_site	41	154	21.15	15.38	11	28	SNP	1	T
MYO15B	80022	genome.wustl.edu	37	17	73590629	73590629	+	3'UTR	SNP	C	C	T			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr17:73590629C>T	ENST00000578382.2	+	0	2876					NR_003587.2		Q96JP2	MY15B_HUMAN	myosin XVB pseudogene							cytoplasm (GO:0005737)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)										CTGCGGGTACCACCAGAGTGC	0.662																																							0											0																																										SO:0001624	3_prime_UTR_variant	0					17q25.1	2014-07-16			ENSG00000266714	ENSG00000266714		"""Myosins / Myosin superfamily : Class XV"""	14083	pseudogene	pseudogene						11294886	Standard	NR_003587		Approved	MYO15BP	uc002jon.1	Q96JP2	OTTHUMG00000179794	ENST00000578382.2:c.*2873C>T	17.37:g.73590629C>T				RNA	SNP	0	NULL	ENST00000578382.2	37	NULL		17																																																																																			0	0		0.662	MYO15B-001	KNOWN	sequence_error|basic	processed_transcript	MYO15B	protein_coding	OTTHUMT00000448172.2	33	42	0	0.00	0	0	C	NR_003587	0	0		73590629	1	no_errors	ENST00000578382	ensembl	human	known	74_37	rna	35	42	22.22	23.64	10	13	SNP	0.994	T
RYR1	6261	genome.wustl.edu	37	19	38954458	38954458	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr19:38954458C>A	ENST00000359596.3	+	22	2754	c.2754C>A	c.(2752-2754)aaC>aaA	p.N918K	RYR1_ENST00000355481.4_Missense_Mutation_p.N918K|RYR1_ENST00000360985.3_Missense_Mutation_p.N918K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	918	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTGAGAGGAACTACAACCTGC	0.617																																							0											0													79.0	75.0	76.0					19																	38954458		2203	4300	6503	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2754C>A	19.37:g.38954458C>A	ENSP00000352608:p.Asn918Lys		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.N918K	ENST00000359596.3	37	c.2754	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	c	13.61	2.287719	0.40494	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.90788	-2.73;-2.73;-2.73	4.0	0.541	0.17168	Ryanodine receptor Ryr (1);	0.068446	0.53938	U	0.000041	D	0.89058	0.6607	L	0.28115	0.83	0.37732	D	0.925319	D;D	0.76494	0.999;0.998	D;D	0.75484	0.984;0.986	D	0.84877	0.0828	10	0.26408	T	0.33	.	8.269	0.31833	0.0:0.3954:0.0:0.6046	.	918;918	P21817-2;P21817	.;RYR1_HUMAN	K	918	ENSP00000352608:N918K;ENSP00000347667:N918K;ENSP00000354254:N918K	ENSP00000347667:N918K	N	+	3	2	RYR1	43646298	0.331000	0.24713	1.000000	0.80357	0.935000	0.57460	-0.380000	0.07427	0.174000	0.19809	-0.413000	0.06143	AAC	0	pfam_Ryanodine_rcpt		0.617	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	20	58	0	0.00	0	0	C		0	0		38954458	1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	13	67	30	15.19	6	12	SNP	1	A
ZNF544	27300	genome.wustl.edu	37	19	58773097	58773097	+	Silent	SNP	T	T	G			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr19:58773097T>G	ENST00000596652.1	+	6	1359	c.1125T>G	c.(1123-1125)acT>acG	p.T375T	ZNF544_ENST00000596929.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600044.1_Silent_p.T347T|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000415203.2_Silent_p.T347T|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000269829.4_Silent_p.T375T|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600220.1_Silent_p.T347T|ZNF544_ENST00000599953.1_Silent_p.T233T			Q6NX49	ZN544_HUMAN	zinc finger protein 544	375					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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GAACACACACTGGAGAAAAGC	0.443																																							0											0													83.0	81.0	82.0					19																	58773097		2203	4300	6503	SO:0001819	synonymous_variant	0			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1125T>G	19.37:g.58773097T>G			A8K6J1|Q9UEX4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T375	ENST00000596652.1	37	c.1125	CCDS12973.1	19																																																																																			0	pfscan_Znf_C2H2		0.443	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	protein_coding	OTTHUMT00000466754.1	65	177	0	0.00	0	0	T	NM_014480	0	0		58773097	1	no_errors	ENST00000269829	ensembl	human	known	74_37	silent	38	224	28.3	14.77	15	39	SNP	0.92	G
EPB41L1	2036	genome.wustl.edu	37	20	34773175	34773175	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr20:34773175A>G	ENST00000338074.2	+	7	864	c.703A>G	c.(703-705)Aac>Gac	p.N235D	EPB41L1_ENST00000373941.1_Missense_Mutation_p.N235D|EPB41L1_ENST00000202028.5_Missense_Mutation_p.N173D|EPB41L1_ENST00000441639.1_Missense_Mutation_p.N173D|EPB41L1_ENST00000373946.3_Missense_Mutation_p.N204D|EPB41L1_ENST00000373950.2_Missense_Mutation_p.N138D	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	235	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCATGTGGGCAACTATGTCAG	0.597																																							0											0													77.0	67.0	70.0					20																	34773175		2203	4300	6503	SO:0001583	missense	0			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.703A>G	20.37:g.34773175A>G	ENSP00000337168:p.Asn235Asp		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.N235D	ENST00000338074.2	37	c.703	CCDS13271.1	20	.	.	.	.	.	.	.	.	.	.	A	4.457	0.084689	0.08583	.	.	ENSG00000088367	ENST00000202028;ENST00000430276;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000397307;ENST00000441639;ENST00000373946;ENST00000373945;ENST00000338074;ENST00000373941	T;T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.33	3.02	0.34903	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	T	0.38558	0.1045	N	0.02765	-0.5	0.36954	D	0.893018	B;B;B;B;B;B	0.18461	0.015;0.028;0.006;0.004;0.0;0.009	B;B;B;B;B;B	0.23716	0.048;0.032;0.01;0.005;0.0;0.02	T	0.36261	-0.9755	9	0.02654	T	1	.	6.4892	0.22105	0.7841:0.0:0.0773:0.1386	.	235;235;204;138;138;173	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	D	173;173;138;235;138;173;173;204;173;235;235	ENSP00000202028:N173D;ENSP00000404341:N173D;ENSP00000363061:N138D;ENSP00000399214:N173D;ENSP00000363057:N204D;ENSP00000363056:N173D;ENSP00000337168:N235D;ENSP00000363052:N235D	ENSP00000202028:N173D	N	+	1	0	EPB41L1	34236589	1.000000	0.71417	0.974000	0.42286	0.001000	0.01503	4.984000	0.63838	0.312000	0.23038	-0.290000	0.09829	AAC	0	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain		0.597	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	protein_coding	OTTHUMT00000078978.3	22	60	0	0.00	0	0	A	NM_012156	0	0		34773175	1	no_errors	ENST00000338074	ensembl	human	known	74_37	missense	13	66	18.75	14.29	3	11	SNP	1	G
BCOR	54880	genome.wustl.edu	37	X	39911577	39911583	+	Frame_Shift_Del	DEL	GAAAATT	GAAAATT	-			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	GAAAATT	GAAAATT	GAAAATT	-	GAAAATT	GAAAATT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chrX:39911577_39911583delGAAAATT	ENST00000378444.4	-	15	5275_5281	c.5047_5053delAATTTTC	c.(5047-5055)aattttccafs	p.NFP1683fs	BCOR_ENST00000342274.4_Frame_Shift_Del_p.NFP1649fs|BCOR_ENST00000378463.1_Frame_Shift_Del_p.NFP526fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.NFP1649fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.NFP1631fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1683	Necessary and sufficient for interaction with PCGF1.				heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCACGTTTGGAAAATTGCAGCGAAAT	0.44			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																0		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0																																										SO:0001589	frameshift_variant	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.5047_5053delAATTTTC	X.37:g.39911577_39911583delGAAAATT	ENSP00000367705:p.Asn1683fs		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N1683fs	ENST00000378444.4	37	c.5053_5047	CCDS48093.1	X																																																																																			0	NULL		0.440	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	protein_coding	OTTHUMT00000060666.2	66	152	0	0.00	0	0	GAAAATT	NM_017745	0	0		39911583	-1	no_errors	ENST00000378444	ensembl	human	known	74_37	frame_shift_del	47	98	12.96	12.50	7	14	DEL	1.000:1.000:1.000:1.000:0.998:1.000:1.000	0
BCOR	54880	genome.wustl.edu	37	X	39911586	39911589	+	Frame_Shift_Del	DEL	AGCG	AGCG	-	rs372913827		TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	AGCG	AGCG	AGCG	-	AGCG	AGCG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chrX:39911586_39911589delAGCG	ENST00000378444.4	-	15	5269_5272	c.5041_5044delCGCT	c.(5041-5046)cgctgcfs	p.RC1681fs	BCOR_ENST00000342274.4_Frame_Shift_Del_p.RC1647fs|BCOR_ENST00000378463.1_Frame_Shift_Del_p.RC524fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.RC1647fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.RC1629fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1681	Necessary and sufficient for interaction with PCGF1.				heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGAAAATTGCAGCGAAATATGCGG	0.436			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																0		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0																																										SO:0001589	frameshift_variant	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.5041_5044delCGCT	X.37:g.39911586_39911589delAGCG	ENSP00000367705:p.Arg1681fs		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R1681fs	ENST00000378444.4	37	c.5044_5041	CCDS48093.1	X																																																																																			0	NULL		0.436	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	protein_coding	OTTHUMT00000060666.2	64	146	0	0.00	0	0	AGCG	NM_017745	0	0		39911589	-1	no_errors	ENST00000378444	ensembl	human	known	74_37	frame_shift_del	38	89	15.56	13.59	7	14	DEL	0.998:0.995:1.000:1.000	0
USP9X	8239	genome.wustl.edu	37	X	40996178	40996178	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chrX:40996178delT	ENST00000324545.8	+	6	1190	c.557delT	c.(556-558)atcfs	p.I186fs	USP9X_ENST00000378308.2_Frame_Shift_Del_p.I186fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	186					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAATTCCATATCTACAATGGT	0.453																																					Ovarian(172;1807 2695 35459 49286)		0											0													146.0	127.0	133.0					X																	40996178		2203	4300	6503	SO:0001589	frameshift_variant	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.557delT	X.37:g.40996178delT	ENSP00000316357:p.Ile186fs		O75550|Q8WWT3|Q8WX12	Frame_Shift_Del	DEL	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.I186fs	ENST00000324545.8	37	c.557	CCDS43930.1	X																																																																																			0	NULL		0.453	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	protein_coding	OTTHUMT00000056250.4	66	130	0	0.00	0	0	T	NM_004652	0	0		40996178	1	no_errors	ENST00000324545	ensembl	human	known	74_37	frame_shift_del	50	91	29.58	35.92	21	51	DEL	1	0
HRAS	3265	genome.wustl.edu	37	11	534284	534285	+	In_Frame_Ins	INS	-	-	CCG	rs104894226		TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	-	-	-	CCG	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr11:534284_534285insCCG	ENST00000451590.1	-	2	225_226	c.38_39insCGG	c.(37-39)ggt>ggCGGt	p.13_13G>GG	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_In_Frame_Ins_p.13_13G>GG|HRAS_ENST00000397596.2_In_Frame_Ins_p.13_13G>GG|HRAS_ENST00000417302.1_In_Frame_Ins_p.13_13G>GG|HRAS_ENST00000397594.1_In_Frame_Ins_p.13_13G>GG	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)|p.G13G(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTTGCCCACACCGCCGGCGCC	0.644		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																													0	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"""E, L, M"""	26	Substitution - Missense(24)|Insertion - In frame(1)|Substitution - coding silent(1)	upper_aerodigestive_tract(9)|thyroid(5)|urinary_tract(5)|lung(2)|skin(2)|salivary_gland(1)|haematopoietic_and_lymphoid_tissue(1)|thymus(1)	GRCh37	CM053285	HRAS	M	rs104894226																																			SO:0001652	inframe_insertion	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.36_38dupCGG	11.37:g.534288_534290dupCCG	ENSP00000407586:p.Gly13dup		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	In_Frame_Ins	INS	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.14in_frame_insG	ENST00000451590.1	37	c.39_38	CCDS7698.1	11																																																																																			0	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.644	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	protein_coding	OTTHUMT00000259403.2	40	118	0	0.00	0	0	0	NM_176795	0	0		534285	-1	no_errors	ENST00000311189	ensembl	human	known	74_37	in_frame_ins	43	90	17.31	10.89	9	11	INS	0.990:1.000	CCG
SUPT4H1	6827	genome.wustl.edu	37	17	56429513	56429515	+	5'UTR	DEL	AAC	AAC	-			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	AAC	AAC	AAC	-	AAC	AAC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr17:56429513_56429515delAAC	ENST00000225504.3	-	0	48_50				SUPT4H1_ENST00000581540.1_5'Flank|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000583841.1_RNA|SUPT4H1_ENST00000577396.1_5'UTR|BZRAP1-AS1_ENST00000578025.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA|BZRAP1-AS1_ENST00000585236.1_RNA|BZRAP1-AS1_ENST00000579859.1_RNA|SUPT4H1_ENST00000580947.1_5'UTR|BZRAP1-AS1_ENST00000580022.1_RNA|BZRAP1-AS1_ENST00000582348.1_RNA|BZRAP1-AS1_ENST00000583826.1_RNA|BZRAP1-AS1_ENST00000579527.1_RNA	NM_003168.1	NP_003159.1	P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1 (S. cerevisiae)						chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			large_intestine(2)|skin(2)	4	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGATGGGAAGAACAACAGGGAGA	0.596																																					NSCLC(25;723 896 19867 29219 40028)		0											0										1,4263		0,1,2131						-3.0	0.0			39	0,8254		0,0,4127	no	utr-5	SUPT4H1	NM_003168.1		0,1,6258	A1A1,A1R,RR		0.0,0.0235,0.0080				1,12517				SO:0001623	5_prime_UTR_variant	0			U38817	CCDS11606.1	17q22	2014-06-23	2001-11-28		ENSG00000213246	ENSG00000213246			11467	protein-coding gene	gene with protein product		603555	"""suppressor of Ty (S.cerevisiae) 4 homolog 1"""	SUPT4H		8786137	Standard	NM_003168		Approved	SPT4H	uc002iwe.2	P63272	OTTHUMG00000178926	ENST00000225504.3:c.-19GTT>-	17.37:g.56429516_56429518delAAC			B2R4X8|D3DTZ4|Q16550|Q62387|Q6ZP89	RNA	DEL	0	NULL	ENST00000225504.3	37	NULL	CCDS11606.1	17																																																																																			0	0		0.596	SUPT4H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BZRAP1-AS1	protein_coding	OTTHUMT00000444000.1	31	147	0	0.00	0	0	AAC	NM_003168	0	0		56429515	1	no_errors	ENST00000578025	ensembl	human	known	74_37	rna	37	93	19.57	22.50	9	27	DEL	0.002:0.000:0.004	0
WASH6P	653440	genome.wustl.edu	37	X	155252510	155252510	+	RNA	SNP	T	T	C			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chrX:155252510T>C	ENST00000461007.1	+	0	1518				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GTGGGAGGGGTGGGACAGAGG	0.597																																							0											0																																												0			AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155252510T>C			A6NGF1|Q8N305	RNA	SNP	0	NULL	ENST00000461007.1	37	NULL		X																																																																																			0	0		0.597	WASH6P-016	KNOWN	basic	processed_transcript	WASH6P	pseudogene	OTTHUMT00000058840.1	37	0	0	0.00	0	0	T	NG_008380	0	0		155252510	1	no_errors	ENST00000461007	ensembl	human	known	74_37	rna	45	0	16.67	0.00	9	0	SNP	0.054	C
DNM1P47	100216544	genome.wustl.edu	37	15	102295647	102295647	+	RNA	SNP	C	C	A	rs200665354	byFrequency	TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr15:102295647C>A	ENST00000561463.1	+	0	3693									DNM1 pseudogene 47																		CGAGAAGACACTCGTGGAGGC	0.612																																							0											0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102295647C>A				RNA	SNP	0	NULL	ENST00000561463.1	37	NULL		15																																																																																			0	0		0.612	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	pseudogene	OTTHUMT00000417589.1	17	0	0	0.00	0	0	C	NG_009149	rs200665354	C->A,G		102295647	1	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	15	5	21.05	0.00	4	0	SNP	0.961	A
NPIPB11	728888	genome.wustl.edu	37	16	29394193	29394193	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr16:29394193G>A	ENST00000524087.1	-	8	2134	c.2060C>T	c.(2059-2061)cCg>cTg	p.P687L	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	687	Pro-rich.					integral component of membrane (GO:0016021)											GCTGACGCTCGGAAGGTGTCT	0.597																																							0											0																																										SO:0001583	missense	0					16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.2060C>T	16.37:g.29394193G>A	ENSP00000430853:p.Pro687Leu			Missense_Mutation	SNP	NULL	p.P687L	ENST00000524087.1	37	c.2060		16	.	.	.	.	.	.	.	.	.	.	g	9.720	1.159423	0.21454	.	.	ENSG00000254206	ENST00000524087	T	0.29917	1.55	.	.	.	.	.	.	.	.	T	0.19644	0.0472	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.26018	-1.0115	5	0.48119	T	0.1	.	.	.	.	.	.	.	.	L	687	ENSP00000430853:P687L	ENSP00000430853:P687L	P	-	2	0	RP11-231C14.2	29301694	.	.	0.002000	0.10522	0.002000	0.02628	.	.	0.073000	0.16731	0.074000	0.15403	CCG	0	NULL		0.597	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	NPIPB11	protein_coding	OTTHUMT00000374094.1	15	0	6.25	0.00	1	0	G	XM_002343430	0	0		29394193	-1	no_errors	ENST00000524087	ensembl	human	putative	74_37	missense	14	0	22.22	0.00	4	0	SNP	0.002	A
KRTAP4-8	728224	genome.wustl.edu	37	17	39254112	39254113	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr17:39254112_39254113insA	ENST00000333822.4	-	1	280_281	c.224_225insT	c.(223-225)tgcfs	p.C75fs		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	75	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ACTGGGGCTTGCAGCAGCTGGA	0.658																																							0											0																																										SO:0001589	frameshift_variant	0			AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.224_225insT	17.37:g.39254112_39254113insA	ENSP00000328444:p.Cys75fs		A8MSH3	Frame_Shift_Ins	INS	pfam_Keratin-assoc	p.K76fs	ENST00000333822.4	37	c.225_224	CCDS45674.1	17																																																																																			0	NULL		0.658	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	KRTAP4-8	protein_coding	OTTHUMT00000257684.1	67	3	1.47	0.00	1	0	0	NM_031960	0	0		39254113	-1	no_errors	ENST00000333822	ensembl	human	known	74_37	frame_shift_ins	61	1	8.96	0.00	6	0	INS	0.906:1.000	A
