#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
ZNF638	27332	genome.wustl.edu	37	2	71595630	71595630	+	Missense_Mutation	SNP	A	A	G			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr2:71595630A>G	ENST00000409544.1	+	7	2744	c.2114A>G	c.(2113-2115)gAt>gGt	p.D705G	ZNF638_ENST00000264447.4_Missense_Mutation_p.D705G|ZNF638_ENST00000377802.2_Missense_Mutation_p.D705G|ZNF638_ENST00000355812.3_Missense_Mutation_p.D705G|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	705	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAAGTGAATGATGTCCTAATT	0.333																																							0											0													147.0	159.0	155.0					2																	71595630		2203	4300	6503	SO:0001583	missense	0			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2114A>G	2.37:g.71595630A>G	ENSP00000386433:p.Asp705Gly		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.D705G	ENST00000409544.1	37	c.2114	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934419	0.52866	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000394137;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21;3.21	5.82	5.82	0.92795	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.525770	0.20234	N	0.096439	T	0.25044	0.0608	L	0.57536	1.79	0.40862	D	0.983841	D;D;D;D;D;D	0.76494	0.999;0.998;0.998;0.997;0.999;0.998	D;D;D;D;D;D	0.87578	0.998;0.991;0.995;0.983;0.998;0.991	T	0.00544	-1.1679	10	0.62326	D	0.03	-7.7628	12.5696	0.56328	1.0:0.0:0.0:0.0	.	705;811;705;705;705;705	A8K583;F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;.;ZN638_HUMAN;.	G	705;811;284;705;705;705;705	ENSP00000386669:D705G;ENSP00000438189:D811G;ENSP00000348066:D705G;ENSP00000367033:D705G;ENSP00000264447:D705G;ENSP00000386433:D705G	ENSP00000264447:D705G	D	+	2	0	ZNF638	71449138	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	5.045000	0.64220	2.222000	0.72286	0.383000	0.25322	GAT	0	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.333	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	protein_coding	OTTHUMT00000327431.1	98	255	0	0.00	0	0	A	NM_014497	0	0		71595630	1	no_errors	ENST00000264447	ensembl	human	known	74_37	missense	76	162	14.61	24.65	13	53	SNP	1	G
MARCH7	64844	genome.wustl.edu	37	2	160615812	160615812	+	Missense_Mutation	SNP	T	T	G			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr2:160615812T>G	ENST00000259050.4	+	7	1981	c.1859T>G	c.(1858-1860)aTt>aGt	p.I620S	MARCH7_ENST00000539065.1_Missense_Mutation_p.I564S|MARCH7_ENST00000409591.1_Missense_Mutation_p.I582S|MARCH7_ENST00000409175.1_Missense_Mutation_p.I620S	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	620					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GATTTTGATATTCATGAACTA	0.333																																							0											0													123.0	125.0	125.0					2																	160615812		2203	4297	6500	SO:0001583	missense	0			AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1859T>G	2.37:g.160615812T>G	ENSP00000259050:p.Ile620Ser		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.I620S	ENST00000259050.4	37	c.1859	CCDS2210.1	2	.	.	.	.	.	.	.	.	.	.	T	17.66	3.445469	0.63178	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000409591;ENST00000420397	T;T;T;T;T	0.46063	2.48;2.52;2.48;2.49;0.88	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	L	0.50333	1.59	0.80722	D	1	D;P;P	0.89917	1.0;0.808;0.624	D;B;B	0.83275	0.996;0.368;0.261	T	0.62416	-0.6859	10	0.72032	D	0.01	-15.1173	15.6119	0.76727	0.0:0.0:0.0:1.0	.	564;582;620	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	S	620;564;620;582;53	ENSP00000386830:I620S;ENSP00000442992:I564S;ENSP00000259050:I620S;ENSP00000387238:I582S;ENSP00000391493:I53S	ENSP00000259050:I620S	I	+	2	0	MARCH7	160324058	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.852000	0.86927	2.136000	0.66102	0.454000	0.30748	ATT	0	NULL		0.333	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH7	protein_coding	OTTHUMT00000255040.3	67	276	0	0.00	0	0	T	NM_022826	0	0		160615812	1	no_errors	ENST00000259050	ensembl	human	known	74_37	missense	62	171	15.07	22.62	11	50	SNP	1	G
ATG9A	79065	genome.wustl.edu	37	2	220091611	220091611	+	Silent	SNP	G	G	T			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr2:220091611G>T	ENST00000409618.1	-	5	631	c.192C>A	c.(190-192)atC>atA	p.I64I	AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000409422.1_Silent_p.I3I|ATG9A_ENST00000361242.4_Silent_p.I64I|ATG9A_ENST00000488833.1_5'UTR|ANKZF1_ENST00000409849.1_5'Flank|ATG9A_ENST00000396761.2_Silent_p.I64I|ANKZF1_ENST00000410034.3_5'Flank|ANKZF1_ENST00000323348.5_5'Flank			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	64					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATCTCCCCGATGAGCATAC	0.403																																							0											0													108.0	103.0	104.0					2																	220091611		1922	4119	6041	SO:0001819	synonymous_variant	0			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.192C>A	2.37:g.220091611G>T			Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Nonsense_Mutation	SNP	NULL	p.S65*	ENST00000409618.1	37	c.194	CCDS42820.1	2																																																																																			0	NULL		0.403	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATG9A	protein_coding	OTTHUMT00000335930.1	94	284	0	0.00	0	0	G	NM_024085	0	0		220091611	-1	no_errors	ENST00000412355	ensembl	human	known	74_37	nonsense	48	159	31.43	26.73	22	58	SNP	0.595	T
PARP15	165631	genome.wustl.edu	37	3	122351025	122351025	+	Missense_Mutation	SNP	G	G	T			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr3:122351025G>T	ENST00000464300.2	+	10	1597	c.1531G>T	c.(1531-1533)Gac>Tac	p.D511Y	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.D208Y|PARP15_ENST00000310366.4_Missense_Mutation_p.D277Y|PARP15_ENST00000483793.1_Missense_Mutation_p.D316Y	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	511	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TACCATAAAGGACAAGTTCAC	0.378																																							0											0													84.0	80.0	81.0					3																	122351025		2203	4300	6503	SO:0001583	missense	0			AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1531G>T	3.37:g.122351025G>T	ENSP00000417214:p.Asp511Tyr		J3KR47|Q8N1K3	Missense_Mutation	SNP	pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.D511Y	ENST00000464300.2	37	c.1531	CCDS46893.1	3	.	.	.	.	.	.	.	.	.	.	G	11.13	1.549485	0.27652	.	.	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	3.77	-0.262	0.12958	Poly(ADP-ribose) polymerase, catalytic domain (2);	.	.	.	.	T	0.30854	0.0778	M	0.79475	2.455	0.09310	N	1	B;P;D;D;D	0.69078	0.343;0.956;0.959;0.997;0.965	B;P;P;D;P	0.63283	0.098;0.588;0.55;0.913;0.712	T	0.09378	-1.0677	9	0.72032	D	0.01	.	8.3198	0.32121	0.3691:0.0:0.6309:0.0	.	208;277;258;316;489	B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3	.;.;.;.;PAR15_HUMAN	Y	511;316;258;277;208	ENSP00000417214:D511Y;ENSP00000417785:D316Y;ENSP00000308436:D277Y;ENSP00000419488:D208Y	ENSP00000308436:D277Y	D	+	1	0	PARP15	123833715	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-0.989000	0.03736	0.000000	0.14550	0.655000	0.94253	GAC	0	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom		0.378	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP15	protein_coding	OTTHUMT00000355964.2	33	193	0	0.00	0	0	G	NM_152615	0	0		122351025	1	no_errors	ENST00000464300	ensembl	human	known	74_37	missense	31	129	13.89	24.71	5	43	SNP	0	T
MMRN1	22915	genome.wustl.edu	37	4	90856011	90856011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr4:90856011C>T	ENST00000394980.1	+	7	1499	c.1180C>T	c.(1180-1182)Caa>Taa	p.Q394*	MMRN1_ENST00000508372.1_Nonsense_Mutation_p.Q136*|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.Q394*|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	394					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGTAAGAGAACAATTTAAAAT	0.308																																							0											0													61.0	70.0	67.0					4																	90856011		2178	4282	6460	SO:0001587	stop_gained	0			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1180C>T	4.37:g.90856011C>T	ENSP00000378431:p.Gln394*		Q4W5L1|Q6P3T8|Q6ZUL9	Nonsense_Mutation	SNP	pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain	p.Q394*	ENST00000394980.1	37	c.1180	CCDS3635.1	4	.	.	.	.	.	.	.	.	.	.	C	38	7.031158	0.98013	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	.	.	.	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	19.6544	0.95831	0.0:1.0:0.0:0.0	.	.	.	.	X	394;394;136	.	ENSP00000264790:Q394X	Q	+	1	0	MMRN1	91075034	1.000000	0.71417	0.983000	0.44433	0.674000	0.39518	3.443000	0.52907	2.807000	0.96579	0.591000	0.81541	CAA	0	NULL		0.308	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	protein_coding	OTTHUMT00000253546.2	83	183	0	0.00	0	0	C	NM_007351	0	0		90856011	1	no_errors	ENST00000264790	ensembl	human	known	74_37	nonsense	55	137	12.7	15.95	8	26	SNP	1	T
ATG5	9474	genome.wustl.edu	37	6	106634402	106634402	+	3'UTR	SNP	A	A	C			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr6:106634402A>C	ENST00000369076.3	-	0	1164				ATG5_ENST00000360666.4_3'UTR|ATG5_ENST00000343245.3_3'UTR|ATG5_ENST00000475645.1_5'UTR|ATG5_ENST00000369070.1_3'UTR	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5						apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		TGTTCAGGCAAATAGTTGATC	0.438																																							0											0													129.0	128.0	128.0					6																	106634402		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"""APG5 (autophagy 5, S. cerevisiae)-like"", ""APG5 autophagy 5-like (S. cerevisiae)"", ""ATG5 autophagy related 5 homolog (S. cerevisiae)"""	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.*13T>G	6.37:g.106634402A>C			O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	RNA	SNP	0	NULL	ENST00000369076.3	37	NULL	CCDS5055.1	6																																																																																			0	0		0.438	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG5	protein_coding	OTTHUMT00000043476.1	20	276	0	0.00	0	0	A	NM_004849	0	0		106634402	-1	no_errors	ENST00000475645	ensembl	human	known	74_37	rna	24	188	20	23.89	6	59	SNP	0.001	C
WBSCR17	64409	genome.wustl.edu	37	7	70880948	70880948	+	Missense_Mutation	SNP	G	G	T			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr7:70880948G>T	ENST00000333538.5	+	4	1297	c.663G>T	c.(661-663)caG>caT	p.Q221H	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	221	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TAAGAAATCAGAAGAGGGAAG	0.557																																							0											0													85.0	75.0	78.0					7																	70880948		2203	4300	6503	SO:0001583	missense	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.663G>T	7.37:g.70880948G>T	ENSP00000329654:p.Gln221His		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.Q221H	ENST00000333538.5	37	c.663	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043101	0.36085	.	.	ENSG00000185274	ENST00000333538	T	0.59224	0.28	5.04	-3.9	0.04181	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.49949	0.1587	L	0.52573	1.65	0.53005	D	0.999963	B	0.15930	0.015	B	0.21546	0.035	T	0.19778	-1.0295	10	0.56958	D	0.05	.	16.7337	0.85442	0.1049:0.0:0.8951:0.0	.	221	Q6IS24	GLTL3_HUMAN	H	221	ENSP00000329654:Q221H	ENSP00000329654:Q221H	Q	+	3	2	WBSCR17	70518884	1.000000	0.71417	0.034000	0.17996	0.881000	0.50899	0.679000	0.25291	-1.435000	0.01972	-0.379000	0.06801	CAG	0	pfam_Glyco_trans_2		0.557	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	protein_coding	OTTHUMT00000252006.1	33	207	0	0.00	0	0	G	NM_022479	0	0		70880948	1	no_errors	ENST00000333538	ensembl	human	known	74_37	missense	23	127	25.81	16.99	8	26	SNP	0.998	T
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|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	292	133	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	244	89	24.22	21.24	78	24	SNP	1	A
ZNF7	7553	genome.wustl.edu	37	8	146063439	146063439	+	Intron	SNP	G	G	A			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr8:146063439G>A	ENST00000528372.1	+	4	487				ZNF7_ENST00000325241.6_Intron|ZNF7_ENST00000528130.1_Silent_p.P98P|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000446747.2_Intron|ZNF7_ENST00000544249.1_Intron|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000532393.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7						multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		aagcagggccgtgcccccctg	0.547																																							0											0																																										SO:0001627	intron_variant	0			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.247+547G>A	8.37:g.146063439G>A			B4DT08|D3DWN6|P17015|Q8N8Y4	Silent	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.P98	ENST00000528372.1	37	c.294	CCDS6435.1	8																																																																																			0	NULL		0.547	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF7	protein_coding	OTTHUMT00000382660.1	90	186	0	1.06	0	2	G	NM_003416	0	0		146063439	1	no_errors	ENST00000528130	ensembl	human	putative	74_37	silent	59	94	16.9	25.40	12	32	SNP	0	A
PCSK5	5125	genome.wustl.edu	37	9	78953202	78953202	+	Missense_Mutation	SNP	G	G	T	rs535037527		TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr9:78953202G>T	ENST00000545128.1	+	34	5262	c.4724G>T	c.(4723-4725)gGg>gTg	p.G1575V		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1575	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGCTGCAAGGGGTGCCAGGGC	0.527													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20033	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													34.0	32.0	32.0					9																	78953202		876	1991	2867	SO:0001583	missense	0				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4724G>T	9.37:g.78953202G>T	ENSP00000446280:p.Gly1575Val		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.G1575V	ENST00000545128.1	37	c.4724	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	G	1.233	-0.623467	0.03636	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.62364	0.03;0.03	5.83	0.43	0.16515	.	1.005110	0.07997	N	0.988196	T	0.51176	0.1659	L	0.31845	0.965	0.09310	N	1	.	.	.	.	.	.	T	0.49808	-0.8900	8	0.56958	D	0.05	-0.8324	4.4388	0.11564	0.2373:0.4083:0.2803:0.0741	.	.	.	.	V	1575;1305;1275	ENSP00000446280:G1575V;ENSP00000411654:G1275V	ENSP00000365945:G1305V	G	+	2	0	PCSK5	78143022	0.002000	0.14202	0.011000	0.14972	0.001000	0.01503	0.460000	0.21924	0.359000	0.24239	-1.177000	0.01723	GGG	0	superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat		0.527	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	protein_coding		40	121	0	0.00	0	0	G		rs535037527	G->T		78953202	1	no_errors	ENST00000545128	ensembl	human	known	74_37	missense	30	58	22.5	22.67	9	17	SNP	0.001	T
ALOX5	240	genome.wustl.edu	37	10	45939679	45939679	+	Missense_Mutation	SNP	G	G	A			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr10:45939679G>A	ENST00000374391.2	+	13	1843	c.1790G>A	c.(1789-1791)cGc>cAc	p.R597H	ALOX5_ENST00000542434.1_Intron|RP11-67C2.2_ENST00000435635.1_RNA	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	597	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	GACCGCGGCCGCTCCTGCTGG	0.677																																							0											0													15.0	15.0	15.0					10																	45939679		2129	4217	6346	SO:0001583	missense	0			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1790G>A	10.37:g.45939679G>A	ENSP00000363512:p.Arg597His		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom	p.R597H	ENST00000374391.2	37	c.1790	CCDS7212.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.258434	0.95368	.	.	ENSG00000012779	ENST00000374391	D	0.90261	-2.64	5.06	5.06	0.68205	Lipoxygenase, C-terminal (3);	0.047443	0.85682	D	0.000000	D	0.94195	0.8137	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93897	0.7185	10	0.51188	T	0.08	-32.0736	15.9666	0.79979	0.0:0.0:1.0:0.0	.	565;597	E5FPY8;P09917	.;LOX5_HUMAN	H	597	ENSP00000363512:R597H	ENSP00000363512:R597H	R	+	2	0	ALOX5	45259685	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.657000	0.98554	2.639000	0.89480	0.650000	0.86243	CGC	0	pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml		0.677	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	protein_coding	OTTHUMT00000047780.1	119	45	0	0.00	0	0	G		0	0		45939679	1	no_errors	ENST00000374391	ensembl	human	known	74_37	missense	86	25	22.52	37.50	25	15	SNP	1	A
ABTB2	25841	genome.wustl.edu	37	11	34378463	34378463	+	Missense_Mutation	SNP	A	A	G			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr11:34378463A>G	ENST00000435224.2	-	1	1092	c.668T>C	c.(667-669)aTc>aCc	p.I223T	ABTB2_ENST00000298992.2_Missense_Mutation_p.I37T	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	223					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GTACTCGTGGATGCGCACGGA	0.677																																							0											0													38.0	31.0	34.0					11																	34378463		2201	4298	6499	SO:0001583	missense	0			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.668T>C	11.37:g.34378463A>G	ENSP00000410157:p.Ile223Thr		A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.I223T	ENST00000435224.2	37	c.668	CCDS7890.2	11	.	.	.	.	.	.	.	.	.	.	A	13.98	2.400294	0.42613	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.70045	-0.45;-0.41	4.5	4.5	0.54988	Histone-fold (2);	0.128501	0.50627	D	0.000110	T	0.69405	0.3107	M	0.81614	2.55	0.58432	D	0.999999	P	0.49090	0.919	B	0.42692	0.395	T	0.76410	-0.2969	10	0.87932	D	0	-11.3953	13.0305	0.58839	1.0:0.0:0.0:0.0	.	37	Q8N961	ABTB2_HUMAN	T	223;37	ENSP00000410157:I223T;ENSP00000298992:I37T	ENSP00000298992:I37T	I	-	2	0	ABTB2	34335039	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	8.680000	0.91225	1.679000	0.50963	0.374000	0.22700	ATC	0	superfamily_Histone-fold		0.677	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB2	protein_coding	OTTHUMT00000388703.3	66	48	1.49	0.00	1	0	A	NM_145804	0	0		34378463	-1	no_errors	ENST00000435224	ensembl	human	known	74_37	missense	37	46	36.21	19.30	21	11	SNP	1	G
SYT7	9066	genome.wustl.edu	37	11	61291930	61291930	+	Missense_Mutation	SNP	C	C	T			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr11:61291930C>T	ENST00000263846.4	-	6	1024	c.697G>A	c.(697-699)Gac>Aac	p.D233N	SYT7_ENST00000539008.1_Missense_Mutation_p.D516N|SYT7_ENST00000542670.1_Missense_Mutation_p.D441N|SYT7_ENST00000542836.1_Missense_Mutation_p.D277N|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000535826.1_Missense_Mutation_p.D352N|SYT7_ENST00000540677.1_Missense_Mutation_p.D308N	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	233	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCAATGGGGTCGTTGCGGCTG	0.547																																							0											0													90.0	82.0	85.0					11																	61291930		2202	4299	6501	SO:0001583	missense	0			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.697G>A	11.37:g.61291930C>T	ENSP00000263846:p.Asp233Asn		F5GZU9|Q08AH6	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.D233N	ENST00000263846.4	37	c.697	CCDS31577.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.143057	0.94560	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	4.69	4.69	0.59074	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.87493	0.6191	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	D	0.90767	0.4669	10	0.87932	D	0	.	17.9665	0.89100	0.0:1.0:0.0:0.0	.	308;233	F5GZU9;O43581	.;SYT7_HUMAN	N	233;308;516;277;441;352	ENSP00000263846:D233N;ENSP00000444201:D308N;ENSP00000439694:D516N;ENSP00000444568:D277N;ENSP00000444019:D441N;ENSP00000437720:D352N	ENSP00000263846:D233N	D	-	1	0	SYT7	61048506	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.729000	0.84864	2.287000	0.76781	0.462000	0.41574	GAC	0	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.547	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT7	protein_coding	OTTHUMT00000398733.1	55	181	0	0.00	0	0	C	NM_004200	0	0		61291930	-1	no_errors	ENST00000263846	ensembl	human	known	74_37	missense	43	102	27.12	27.66	16	39	SNP	1	T
OR6C65	403282	genome.wustl.edu	37	12	55794550	55794550	+	Silent	SNP	C	C	T			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr12:55794550C>T	ENST00000379665.2	+	1	337	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TCCTAGATTTCTGATCAACAT	0.318																																							0											0													74.0	77.0	76.0					12																	55794550		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.238C>T	12.37:g.55794550C>T			B2RNH9	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L80	ENST00000379665.2	37	c.238	CCDS31821.1	12																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.318	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C65	protein_coding	OTTHUMT00000406674.1	34	259	0	0.00	0	0	C		0	0		55794550	1	no_errors	ENST00000379665	ensembl	human	known	74_37	silent	31	207	29.55	18.82	13	48	SNP	0.004	T
NBEA	26960	genome.wustl.edu	37	13	35738643	35738643	+	Silent	SNP	A	A	C			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr13:35738643A>C	ENST00000400445.3	+	24	4764	c.4230A>C	c.(4228-4230)ccA>ccC	p.P1410P	NBEA_ENST00000379939.2_Silent_p.P1410P|NBEA_ENST00000310336.4_Silent_p.P1410P|NBEA_ENST00000540320.1_Silent_p.P1410P	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1410					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTACATCACCAACTGTAAGTA	0.368																																							0											0													137.0	125.0	129.0					13																	35738643		1918	4159	6077	SO:0001819	synonymous_variant	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4230A>C	13.37:g.35738643A>C			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.P1410	ENST00000400445.3	37	c.4230	CCDS45026.1	13																																																																																			0	NULL		0.368	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	protein_coding		38	239	0	0.41	0	1	A	NM_015678	0	0		35738643	1	no_errors	ENST00000310336	ensembl	human	known	74_37	silent	47	174	16.07	25.96	9	61	SNP	0.981	C
RSU1	6251	genome.wustl.edu	37	10	16859406	16859406	+	5'UTR	DEL	G	G	-			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr10:16859406delG	ENST00000345264.5	-	0	121				RSU1_ENST00000377921.3_5'Flank|RSU1_ENST00000464074.2_5'UTR|RSU1_ENST00000602389.1_5'UTR	NM_012425.3	NP_036557.1	Q15404	RSU1_HUMAN	Ras suppressor protein 1						cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		CACCGGCACTGAACAGCGAAC	0.642																																							0											0																																										SO:0001623	5_prime_UTR_variant	0			AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000345264.5:c.-96C>-	10.37:g.16859406delG			A8KA46|D3DRU3|Q6FI17	RNA	DEL	0	NULL	ENST00000345264.5	37	NULL	CCDS7112.1	10																																																																																			0	0		0.642	RSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSU1	protein_coding	OTTHUMT00000047005.1	42	51	0	0.00	0	0	G	NM_012425, NM_152724	0	0		16859406	-1	no_errors	ENST00000377911	ensembl	human	known	74_37	rna	50	47	12.28	26.56	7	17	DEL	0	0
PPFIA3	8541	genome.wustl.edu	37	19	49641538	49641539	+	Frame_Shift_Ins	INS	-	-	A			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr19:49641538_49641539insA	ENST00000334186.4	+	16	2279_2280	c.1930_1931insA	c.(1930-1932)gacfs	p.D644fs	PPFIA3_ENST00000602351.1_Frame_Shift_Ins_p.D644fs	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	644					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CTCTGGCTTGGACTCGTTGGGC	0.629																																							0											0																																										SO:0001589	frameshift_variant	0			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.1931dupA	19.37:g.49641539_49641539dupA	ENSP00000335614:p.Asp644fs		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Frame_Shift_Ins	INS	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D644fs	ENST00000334186.4	37	c.1930_1931	CCDS12758.1	19																																																																																			0	NULL		0.629	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	protein_coding	OTTHUMT00000465688.1	188	95	0	0.00	0	0	0	NM_003660	0	0		49641539	1	no_errors	ENST00000334186	ensembl	human	known	74_37	frame_shift_ins	90	71	26.23	16.47	32	14	INS	0.999:0.852	A
GOLGA6L7P	728310	genome.wustl.edu	37	15	29090308	29090308	+	RNA	SNP	A	A	C	rs2021013	byFrequency	TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr15:29090308A>C	ENST00000569815.1	-	0	954					NR_047567.1				golgin A6 family-like 7, pseudogene																		acacacacacacacgtacaTG	0.398																																							0											0																																												0			AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29090308A>C				RNA	SNP	0	NULL	ENST00000569815.1	37	NULL		15																																																																																			0	0		0.398	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	GOLGA6L7P	pseudogene	OTTHUMT00000431796.1	9	0	0	0.00	0	0	A	XR_078490	rs2021013	A->C		29090308	-1	no_errors	ENST00000569815	ensembl	human	putative	74_37	rna	2	0	40	0.00	2	0	SNP	0.017	C
KIR3DL2	3812	genome.wustl.edu	37	19	55363631	55363631	+	Silent	SNP	C	C	T			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr19:55363631C>T	ENST00000326321.3	+	3	282	c.249C>T	c.(247-249)ggC>ggT	p.G83G	KIR3DL2_ENST00000270442.5_Silent_p.G83G|KIR3DL1_ENST00000402254.2_Intron	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	83	Ig-like C2-type 1.				cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TCATCATGGGCCCTGTGACCC	0.552																																							0											0													12.0	11.0	12.0					19																	55363631		2113	4013	6126	SO:0001819	synonymous_variant	0			L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.249C>T	19.37:g.55363631C>T			Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.G83	ENST00000326321.3	37	c.249	CCDS12906.1	19																																																																																			0	pfam_Immunoglobulin,smart_Ig_sub		0.552	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIR3DL2	protein_coding	OTTHUMT00000141241.1	21	18	0	0.00	0	0	C		0	0		55363631	1	no_errors	ENST00000326321	ensembl	human	known	74_37	silent	21	9	12.5	0.00	3	0	SNP	0.029	T
AC026320.1	0	genome.wustl.edu	37	3	191693763	191693764	+	RNA	INS	-	-	GC	rs142374799		TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr3:191693763_191693764insGC	ENST00000401201.1	+	0	21_22																											tgtgtgtgtgtgtgtgtgtgcg	0.485																																							0											0																																												0																															3.37:g.191693763_191693764insGC				RNA	INS	0	NULL	ENST00000401201.1	37	NULL		3																																																																																			0	0		0.485	AC026320.1-201	NOVEL	basic	miRNA	ENSG00000216020	miRNA		13	0	0	0.00	0	0	0		rs142374799	T->TGC		191693764	1	no_errors	ENST00000401201	ensembl	human	novel	74_37	rna	5	0	44.44	0.00	4	0	INS	0.013:0.015	GC
MTCH1	23787	genome.wustl.edu	37	6	36945416	36945416	+	Frame_Shift_Del	DEL	G	G	-			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr6:36945416delG	ENST00000373627.5	-	5	767	c.643delC	c.(643-645)ctgfs	p.L215fs	MTCH1_ENST00000538808.1_Frame_Shift_Del_p.L59fs|MTCH1_ENST00000373616.5_Frame_Shift_Del_p.L215fs	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	215					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TTACCATGCAGGGGGTGGGCC	0.647											OREG0017393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													22.0	20.0	21.0					6																	36945416		2200	4298	6498	SO:0001589	frameshift_variant	0			AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"""Solute carriers"""	17586	protein-coding gene	gene with protein product	"""solute carrier family 25, member 49"""	610449	"""mitochondrial carrier homolog 1 (C. elegans)"""			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.643delC	6.37:g.36945416delG	ENSP00000362730:p.Leu215fs	866	A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Frame_Shift_Del	DEL	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.L215fs	ENST00000373627.5	37	c.643		6																																																																																			0	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.647	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	MTCH1	protein_coding	OTTHUMT00000040396.1	32	10	0	0.00	0	0	G	NM_014341	0	0		36945416	-1	no_errors	ENST00000373627	ensembl	human	known	74_37	frame_shift_del	18	9	14.29	0.00	3	0	DEL	1	0
NACAD	23148	genome.wustl.edu	37	7	45123654	45123655	+	Frame_Shift_Ins	INS	-	-	C			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr7:45123654_45123655insC	ENST00000490531.2	-	2	2143_2144	c.2124_2125insG	c.(2122-2127)cagcagfs	p.Q709fs		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	709					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						TCTTCAGCCTGCTGGGACACAA	0.614																																							0											0																																										SO:0001589	frameshift_variant	0			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.2125dupG	7.37:g.45123655_45123655dupC	ENSP00000420477:p.Gln709fs			Frame_Shift_Ins	INS	pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom	p.Q708fs	ENST00000490531.2	37	c.2125_2124	CCDS47582.1	7																																																																																			0	NULL		0.614	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	protein_coding	OTTHUMT00000353652.2	21	0	0	0.00	0	0	0	NM_001146334	0	0		45123655	-1	no_errors	ENST00000490531	ensembl	human	known	74_37	frame_shift_ins	26	0	13.33	0.00	4	0	INS	0.000:0.000	C
