#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
A2ML1	144568	genome.wustl.edu	37	12	8998092	8998092	+	Nonsense_Mutation	SNP	A	A	T			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr12:8998092A>T	ENST00000299698.7	+	13	1711	c.1531A>T	c.(1531-1533)Aag>Tag	p.K511*	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Nonsense_Mutation_p.K20*	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GAACTCTAAGAAGAAAGGTGA	0.413																																						dbGAP											0													100.0	100.0	100.0					12																	8998092		1858	4099	5957	-	-	-	SO:0001587	stop_gained	0			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1531A>T	12.37:g.8998092A>T	ENSP00000299698:p.Lys511*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.K511*	ENST00000299698.7	37	c.1531	CCDS8596.2	12	.	.	.	.	.	.	.	.	.	.	A	38	7.029551	0.98013	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000536789;ENST00000539547;ENST00000545692	.	.	.	3.89	2.76	0.32466	.	0.948715	0.08696	N	0.907196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	7.0749	0.25199	0.8849:0.0:0.1151:0.0	.	.	.	.	X	511;511;61;64;20;23	.	ENSP00000299698:K511X	K	+	1	0	A2ML1	8889359	0.036000	0.19791	0.178000	0.23040	0.852000	0.48524	1.790000	0.38734	0.857000	0.35407	0.459000	0.35465	AAG	A2ML1	-	pfam_A2M_N_2	ENSG00000166535		0.413	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	HGNC	protein_coding	OTTHUMT00000250304.3	41	0.00	0	A	NM_144670		8998092	8998092	+1	no_errors	ENST00000299698	ensembl	human	known	69_37n	nonsense	35	31.37	16	SNP	0.136	T
ABL1	25	genome.wustl.edu	37	9	133729582	133729582	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr9:133729582G>A	ENST00000318560.5	+	2	592	c.211G>A	c.(211-213)Gat>Aat	p.D71N		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	71	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TGCACTGTATGATTTTGTGGC	0.488			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	dbGAP		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													125.0	124.0	124.0					9																	133729582		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.211G>A	9.37:g.133729582G>A	ENSP00000323315:p.Asp71Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.D90N	ENST00000318560.5	37	c.268	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	G	37	6.198041	0.97367	.	.	ENSG00000097007	ENST00000372348;ENST00000438426;ENST00000318560	T;T	0.66815	-0.23;-0.23	5.46	5.46	0.80206	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.81809	0.4901	M	0.74258	2.255	0.80722	D	1	P;D	0.61697	0.951;0.99	D;D	0.69307	0.938;0.963	D	0.83658	0.0159	10	0.87932	D	0	.	18.4806	0.90809	0.0:0.0:1.0:0.0	.	71;108	P00519;Q59FK4	ABL1_HUMAN;.	N	90;117;71	ENSP00000361423:D90N;ENSP00000323315:D71N	ENSP00000323315:D71N	D	+	1	0	ABL1	132719403	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.808000	0.99193	2.592000	0.87571	0.632000	0.83419	GAT	ABL1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000097007		0.488	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	38	0.00	0	G	NM_007313		133729582	133729582	+1	no_errors	ENST00000372348	ensembl	human	known	69_37n	missense	31	22.50	9	SNP	1.000	A
ACE	1636	genome.wustl.edu	37	17	61557814	61557814	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr17:61557814G>A	ENST00000290866.4	+	5	796	c.772G>A	c.(772-774)Gtc>Atc	p.V258I	ACE_ENST00000538928.1_Missense_Mutation_p.V258I|ACE_ENST00000428043.1_Missense_Mutation_p.V258I|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	258	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCATGCCTTCGTCCGCCGCGC	0.607																																						dbGAP											0													158.0	137.0	144.0					17																	61557814		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.772G>A	17.37:g.61557814G>A	ENSP00000290866:p.Val258Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.V258I	ENST00000290866.4	37	c.772	CCDS11637.1	17	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493073	0.64186	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.41065	1.01;1.01;1.01	4.02	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.68504	0.3008	M	0.86864	2.845	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.918	D;D;P	0.79784	0.993;0.989;0.546	T	0.75838	-0.3176	10	0.56958	D	0.05	-37.792	16.3545	0.83230	0.0:0.0:1.0:0.0	.	258;258;258	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	I	258	ENSP00000439591:V258I;ENSP00000290866:V258I;ENSP00000397593:V258I	ENSP00000290866:V258I	V	+	1	0	ACE	58911546	1.000000	0.71417	0.947000	0.38551	0.393000	0.30537	9.657000	0.98554	2.074000	0.62210	0.555000	0.69702	GTC	ACE	-	pfam_Peptidase_M2	ENSG00000159640		0.607	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	35	0.00	0	G			61557814	61557814	+1	no_errors	ENST00000290866	ensembl	human	known	69_37n	missense	26	38.10	16	SNP	1.000	A
ADD2	119	genome.wustl.edu	37	2	70905967	70905967	+	Missense_Mutation	SNP	C	C	T	rs376364638		TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr2:70905967C>T	ENST00000264436.4	-	11	1696	c.1252G>A	c.(1252-1254)Gcc>Acc	p.A418T	ADD2_ENST00000355733.3_Missense_Mutation_p.A418T|ADD2_ENST00000407644.2_Missense_Mutation_p.A418T|ADD2_ENST00000430656.1_Missense_Mutation_p.A434T|ADD2_ENST00000413157.2_Missense_Mutation_p.A418T	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	418					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGTCGCAGGGCGGGCACCGGG	0.587																																						dbGAP											0													137.0	138.0	137.0					2																	70905967		2203	4300	6503	-	-	-	SO:0001583	missense	0			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1252G>A	2.37:g.70905967C>T	ENSP00000264436:p.Ala418Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.A418T	ENST00000264436.4	37	c.1252	CCDS1906.1	2	.	.	.	.	.	.	.	.	.	.	C	6.063	0.379952	0.11466	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.23	1.21	0.21127	.	0.288497	0.33572	N	0.004776	T	0.09949	0.0244	N	0.12182	0.205	0.09310	N	0.999994	B;B;B;B	0.14012	0.003;0.005;0.004;0.009	B;B;B;B	0.08055	0.001;0.003;0.001;0.003	T	0.21348	-1.0248	10	0.48119	T	0.1	-10.1198	6.5671	0.22519	0.0:0.5146:0.0:0.4853	.	434;418;418;418	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	T	418;418;418;418;418;434	ENSP00000264436:A418T;ENSP00000384677:A418T;ENSP00000347972:A418T;ENSP00000388072:A418T;ENSP00000398112:A434T	ENSP00000264436:A418T	A	-	1	0	ADD2	70759475	0.000000	0.05858	0.038000	0.18304	0.420000	0.31355	-0.270000	0.08584	0.368000	0.24481	0.655000	0.94253	GCC	ADD2	-	NULL	ENSG00000075340		0.587	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	46	0.00	0	C	NM_001617		70905967	70905967	-1	no_errors	ENST00000264436	ensembl	human	known	69_37n	missense	42	29.51	18	SNP	0.055	T
APOBR	55911	genome.wustl.edu	37	16	28507424	28507424	+	Intron	SNP	C	C	T	rs148114931|rs441214	byFrequency	TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr16:28507424C>T	ENST00000431282.1	+	3	1058				APOBR_ENST00000564831.1_Silent_p.A354A|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Intron|CLN3_ENST00000569430.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGGAGGAGGCCGGGACAGCCT	0.711																																						dbGAP											0													8.0	11.0	10.0					16																	28507424		1858	4004	5862	-	-	-	SO:0001627	intron_variant	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1049-14C>T	16.37:g.28507424C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	NULL	p.A354	ENST00000431282.1	37	c.1062		16																																																																																			APOBR	-	NULL	ENSG00000184730		0.711	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		17	0.00	0	C	NM_182804		28507424	28507424	+1	no_errors	ENST00000564831	ensembl	human	known	69_37n	silent	6	45.45	5	SNP	0.000	T
BZW1	9689	genome.wustl.edu	37	2	201682951	201682951	+	Silent	SNP	C	C	T			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr2:201682951C>T	ENST00000409600.1	+	8	1109	c.654C>T	c.(652-654)ctC>ctT	p.L218L	BZW1_ENST00000452790.2_Silent_p.L250L|BZW1_ENST00000409226.1_Silent_p.L222L	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						TTTAGGAACTCTTTCCTGCCA	0.323																																						dbGAP											0													22.0	20.0	21.0					2																	201682951		1788	4058	5846	-	-	-	SO:0001819	synonymous_variant	0			D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.654C>T	2.37:g.201682951C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Silent	SNP	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	p.L218	ENST00000409600.1	37	c.654	CCDS56156.1	2																																																																																			BZW1	-	NULL	ENSG00000082153		0.323	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BZW1	HGNC	protein_coding	OTTHUMT00000335975.1	33	0.00	0	C	NM_014670		201682951	201682951	+1	no_errors	ENST00000409600	ensembl	human	known	69_37n	silent	21	40.00	14	SNP	0.974	T
CAMSAP1	157922	genome.wustl.edu	37	9	138714464	138714464	+	Silent	SNP	C	C	A			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr9:138714464C>A	ENST00000389532.4	-	11	2107	c.2043G>T	c.(2041-2043)ggG>ggT	p.G681G	CAMSAP1_ENST00000409386.3_Silent_p.G692G|CAMSAP1_ENST00000312405.6_Silent_p.G403G|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	681					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGGCCAGAGGCCCACCACAGA	0.597																																						dbGAP											0													44.0	44.0	44.0					9																	138714464		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.2043G>T	9.37:g.138714464C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.G692	ENST00000389532.4	37	c.2076	CCDS35176.2	9																																																																																			CAMSAP1	-	NULL	ENSG00000130559		0.597	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	30	0.00	0	C	XM_351857		138714464	138714464	-1	no_errors	ENST00000409386	ensembl	human	known	69_37n	silent	25	26.47	9	SNP	0.017	A
CCDC172	374355	genome.wustl.edu	37	10	118100287	118100287	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr10:118100287G>C	ENST00000333254.3	+	4	458	c.207G>C	c.(205-207)ttG>ttC	p.L69F	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	69																	TACAGCTTTTGAAAGCTCATG	0.303																																						dbGAP											0													44.0	46.0	46.0					10																	118100287		2202	4281	6483	-	-	-	SO:0001583	missense	0			BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.207G>C	10.37:g.118100287G>C	ENSP00000329860:p.Leu69Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.L69F	ENST00000333254.3	37	c.207	CCDS31291.1	10	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486755	0.44249	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.95	3.13	0.36017	.	0.266309	0.31821	N	0.007020	T	0.60274	0.2256	M	0.72894	2.215	0.34791	D	0.735729	D	0.55172	0.97	P	0.54664	0.758	T	0.68727	-0.5332	9	0.59425	D	0.04	-27.6474	7.4598	0.27287	0.1374:0.0:0.7273:0.1353	.	69	P0C7W6	CJ096_HUMAN	F	69	.	ENSP00000329860:L69F	L	+	3	2	C10orf96	118090277	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	1.865000	0.39479	0.427000	0.26145	-0.133000	0.14855	TTG	CCDC172	-	NULL	ENSG00000182645		0.303	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC172	HGNC	protein_coding	OTTHUMT00000050516.2	37	0.00	0	G	NM_198515		118100287	118100287	+1	no_errors	ENST00000333254	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	1.000	C
CHSY3	337876	genome.wustl.edu	37	5	129520402	129520402	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr5:129520402C>T	ENST00000305031.4	+	3	1925	c.1567C>T	c.(1567-1569)Cag>Tag	p.Q523*		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	523					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAAGGAAATTCAGTATGGCTA	0.453																																						dbGAP											0													68.0	66.0	67.0					5																	129520402		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1567C>T	5.37:g.129520402C>T	ENSP00000302629:p.Gln523*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP97|Q76L22|Q86Y52	Nonsense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.Q523*	ENST00000305031.4	37	c.1567	CCDS34223.1	5	.	.	.	.	.	.	.	.	.	.	C	38	6.665621	0.97747	.	.	ENSG00000198108	ENST00000305031	.	.	.	4.38	4.38	0.52667	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.7601	18.2607	0.90034	0.0:1.0:0.0:0.0	.	.	.	.	X	523	.	.	Q	+	1	0	CHSY3	129548301	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.606000	0.82863	2.708000	0.92522	0.650000	0.86243	CAG	CHSY3	-	pfam_Chond_GalNAc	ENSG00000198108		0.453	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	HGNC	protein_coding	OTTHUMT00000371453.1	23	0.00	0	C	NM_175856		129520402	129520402	+1	no_errors	ENST00000305031	ensembl	human	known	69_37n	nonsense	24	25.00	8	SNP	1.000	T
CRISPLD2	83716	genome.wustl.edu	37	16	84888433	84888433	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr16:84888433G>A	ENST00000262424.5	+	6	931	c.707G>A	c.(706-708)cGa>cAa	p.R236Q	CRISPLD2_ENST00000567845.1_Missense_Mutation_p.R236Q|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.R236Q|AC025280.1_ENST00000584136.1_RNA|CRISPLD2_ENST00000566431.1_3'UTR	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	236					extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						TTGTGTTACCGAGGTAGGAAA	0.507																																						dbGAP											0													117.0	117.0	117.0					16																	84888433		2199	4300	6499	-	-	-	SO:0001583	missense	0			AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.707G>A	16.37:g.84888433G>A	ENSP00000262424:p.Arg236Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP	pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.R236Q	ENST00000262424.5	37	c.707	CCDS10949.1	16	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304976	0.40795	.	.	ENSG00000103196	ENST00000262424	T	0.63417	-0.04	5.05	3.06	0.35304	.	0.140764	0.44902	N	0.000420	T	0.56337	0.1978	M	0.71581	2.175	0.80722	D	1	B;B;B	0.27380	0.008;0.177;0.143	B;B;B	0.21546	0.004;0.035;0.012	T	0.54682	-0.8257	10	0.59425	D	0.04	.	7.3267	0.26560	0.3445:0.0:0.6555:0.0	.	236;236;236	Q9H0B8;Q9H0B8-2;Q9H0B8-3	CRLD2_HUMAN;.;.	Q	236	ENSP00000262424:R236Q	ENSP00000262424:R236Q	R	+	2	0	CRISPLD2	83445934	1.000000	0.71417	0.997000	0.53966	0.596000	0.36781	2.836000	0.48183	0.528000	0.28580	0.462000	0.41574	CGA	CRISPLD2	-	NULL	ENSG00000103196		0.507	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD2	HGNC	protein_coding	OTTHUMT00000269086.2	41	0.00	0	G	NM_031476		84888433	84888433	+1	no_errors	ENST00000262424	ensembl	human	known	69_37n	missense	23	36.11	13	SNP	1.000	A
DDI1	414301	genome.wustl.edu	37	11	103907556	103907556	+	Silent	SNP	G	G	A			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr11:103907556G>A	ENST00000302259.3	+	1	249	c.6G>A	c.(4-6)ctG>ctA	p.L2L	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	2	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.						aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		ccgccATGCTGATCACCGTGT	0.687																																						dbGAP											0													64.0	74.0	70.0					11																	103907556		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.6G>A	11.37:g.103907556G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z4U6|Q8WTS3	Silent	SNP	pfam_Peptidase_aspartic_euk-pred,pfam_Ubiquitin,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.L2	ENST00000302259.3	37	c.6	CCDS31660.1	11																																																																																			DDI1	-	pfscan_Ubiquitin_supergroup	ENSG00000170967		0.687	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI1	HGNC	protein_coding	OTTHUMT00000387326.1	10	0.00	0	G	NM_001001711		103907556	103907556	+1	no_errors	ENST00000302259	ensembl	human	known	69_37n	silent	8	38.46	5	SNP	0.967	A
AGO4	192670	genome.wustl.edu	37	1	36297703	36297703	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr1:36297703G>A	ENST00000373210.3	+	10	1407	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	388					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										ATACCTTAAAGAATTTGGTAT	0.438																																						dbGAP											0													151.0	163.0	159.0					1																	36297703		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.1162G>A	1.37:g.36297703G>A	ENSP00000362306:p.Glu388Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD27	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.E388K	ENST00000373210.3	37	c.1162	CCDS397.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067126	0.76301	.	.	ENSG00000134698	ENST00000373210	T	0.04706	3.57	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.11367	0.0277	M	0.82433	2.59	0.80722	D	1	B	0.32604	0.377	B	0.28553	0.091	T	0.02512	-1.1148	10	0.66056	D	0.02	-21.0067	18.8828	0.92364	0.0:0.0:1.0:0.0	.	388	Q9HCK5	AGO4_HUMAN	K	388	ENSP00000362306:E388K	ENSP00000362306:E388K	E	+	1	0	EIF2C4	36070290	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.526000	0.85167	0.655000	0.94253	GAA	EIF2C4	-	NULL	ENSG00000134698		0.438	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C4	HGNC	protein_coding	OTTHUMT00000012213.3	53	0.00	0	G	NM_017629		36297703	36297703	+1	no_errors	ENST00000373210	ensembl	human	known	69_37n	missense	39	32.76	19	SNP	1.000	A
EMCN	51705	genome.wustl.edu	37	4	101396227	101396227	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr4:101396227G>C	ENST00000296420.4	-	3	405	c.227C>G	c.(226-228)tCa>tGa	p.S76*	EMCN_ENST00000511970.1_Nonsense_Mutation_p.S76*|EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000305864.3_Nonsense_Mutation_p.S76*	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	76	Thr-rich.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		AGTAGCTGTTGACATCAGAGA	0.239																																						dbGAP											0													50.0	55.0	53.0					4																	101396227		2184	4275	6459	-	-	-	SO:0001587	stop_gained	0			AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"""Mucins"""	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.227C>G	4.37:g.101396227G>C	ENSP00000296420:p.Ser76*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Nonsense_Mutation	SNP	pfam_Endomucin	p.S76*	ENST00000296420.4	37	c.227	CCDS3655.1	4	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478562	0.63849	.	.	ENSG00000164035	ENST00000296420;ENST00000305864;ENST00000506300;ENST00000511970;ENST00000502569	.	.	.	3.3	2.46	0.29980	.	1.568820	0.04424	N	0.368143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	0.0352	6.5605	0.22483	0.1309:0.0:0.8691:0.0	.	.	.	.	X	76;76;3;76;76	.	ENSP00000296420:S76X	S	-	2	0	EMCN	101615250	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.400000	0.20932	0.984000	0.38629	0.650000	0.86243	TCA	EMCN	-	pfam_Endomucin	ENSG00000164035		0.239	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMCN	HGNC	protein_coding	OTTHUMT00000253699.2	60	0.00	0	G	NM_016242		101396227	101396227	-1	no_errors	ENST00000296420	ensembl	human	known	69_37n	nonsense	37	24.49	12	SNP	0.002	C
FBXW8	26259	genome.wustl.edu	37	12	117387426	117387426	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr12:117387426C>T	ENST00000309909.5	+	4	674	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	FBXW8_ENST00000455858.2_Missense_Mutation_p.R132C			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	198					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CACGCAGAATCGCAAAGGTGC	0.517																																						dbGAP											0													240.0	174.0	196.0					12																	117387426		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.592C>T	12.37:g.117387426C>T	ENSP00000310686:p.Arg198Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UK95	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R198C	ENST00000309909.5	37	c.592	CCDS9182.1	12	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919974	0.92249	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.24350	1.86;1.86	5.06	5.06	0.68205	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.50103	0.1596	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.968;0.992	T	0.50482	-0.8823	10	0.72032	D	0.01	-19.1813	18.2214	0.89903	0.0:1.0:0.0:0.0	.	198;132	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	C	198;132;132	ENSP00000310686:R198C;ENSP00000389144:R132C	ENSP00000310686:R198C	R	+	1	0	FBXW8	115871809	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.428000	0.73383	2.631000	0.89168	0.557000	0.71058	CGC	FBXW8	-	superfamily_F-box_dom_cyclin-like,smart_WD40_repeat	ENSG00000174989		0.517	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW8	HGNC	protein_coding	OTTHUMT00000403561.1	40	0.00	0	C	NM_012174		117387426	117387426	+1	no_errors	ENST00000309909	ensembl	human	known	69_37n	missense	40	23.08	12	SNP	1.000	T
HRNR	388697	genome.wustl.edu	37	1	152188769	152188769	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr1:152188769C>T	ENST00000368801.2	-	3	5411	c.5336G>A	c.(5335-5337)aGc>aAc	p.S1779N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1779					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTTGGCTACAGAAGTG	0.537																																						dbGAP											0													1.0	2.0	2.0					1																	152188769		537	1680	2217	-	-	-	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5336G>A	1.37:g.152188769C>T	ENSP00000357791:p.Ser1779Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S1779N	ENST00000368801.2	37	c.5336	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	0.726	-0.781889	0.02929	.	.	ENSG00000197915	ENST00000368801	T	0.02763	4.17	1.88	-1.56	0.08532	.	.	.	.	.	T	0.00637	0.0021	L	0.29908	0.895	0.09310	N	1	B	0.28026	0.198	B	0.20955	0.032	T	0.44050	-0.9353	9	0.20519	T	0.43	.	7.033	0.24977	0.1817:0.2799:0.5384:0.0	.	1779	Q86YZ3	HORN_HUMAN	N	1779	ENSP00000357791:S1779N	ENSP00000357791:S1779N	S	-	2	0	HRNR	150455393	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.492000	0.06467	-0.388000	0.07797	-2.357000	0.00240	AGC	HRNR	-	NULL	ENSG00000197915		0.537	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	16	0.00	0	C	XM_373868		152188769	152188769	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	0.000	T
IBSP	3381	genome.wustl.edu	37	4	88723821	88723821	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr4:88723821C>T	ENST00000226284.5	+	4	188	c.121C>T	c.(121-123)Cca>Tca	p.P41S		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	41					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		TAAGTACAGGCCACGATATTA	0.289																																						dbGAP											0													54.0	56.0	55.0					4																	88723821		2202	4284	6486	-	-	-	SO:0001583	missense	0				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.121C>T	4.37:g.88723821C>T	ENSP00000226284:p.Pro41Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_BSP_II	p.P41S	ENST00000226284.5	37	c.121	CCDS3624.1	4	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548498	0.45383	.	.	ENSG00000029559	ENST00000226284	T	0.12879	2.64	5.38	5.38	0.77491	.	0.196539	0.35970	N	0.002871	T	0.32941	0.0846	M	0.75447	2.3	0.34110	D	0.662869	D	0.69078	0.997	D	0.66351	0.943	T	0.37596	-0.9699	10	0.15499	T	0.54	.	14.6342	0.68678	0.0:1.0:0.0:0.0	.	41	P21815	SIAL_HUMAN	S	41	ENSP00000226284:P41S	ENSP00000226284:P41S	P	+	1	0	IBSP	88942845	0.989000	0.36119	1.000000	0.80357	0.983000	0.72400	4.360000	0.59455	2.525000	0.85131	0.467000	0.42956	CCA	IBSP	-	pfam_BSP_II	ENSG00000029559		0.289	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBSP	HGNC	protein_coding	OTTHUMT00000253050.2	58	0.00	0	C			88723821	88723821	+1	no_errors	ENST00000226284	ensembl	human	known	69_37n	missense	33	32.65	16	SNP	1.000	T
IFI16	3428	genome.wustl.edu	37	1	158985687	158985687	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr1:158985687G>C	ENST00000295809.7	+	3	546	c.291G>C	c.(289-291)aaG>aaC	p.K97N	IFI16_ENST00000340979.6_Missense_Mutation_p.K97N|IFI16_ENST00000359709.3_Missense_Mutation_p.K97N|IFI16_ENST00000448393.2_Missense_Mutation_p.K97N|IFI16_ENST00000368131.4_Missense_Mutation_p.K97N|IFI16_ENST00000430894.2_Missense_Mutation_p.K101N|IFI16_ENST00000368132.3_Missense_Mutation_p.K97N			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	97	Lys-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TATCAAGAAAGAGGAAGAAGG	0.453																																						dbGAP											0													92.0	84.0	87.0					1																	158985687		2203	4300	6503	-	-	-	SO:0001583	missense	0			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.291G>C	1.37:g.158985687G>C	ENSP00000295809:p.Lys97Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.K97N	ENST00000295809.7	37	c.291		1	.	.	.	.	.	.	.	.	.	.	.	13.03	2.114089	0.37339	.	.	ENSG00000163565	ENST00000359709;ENST00000426592;ENST00000447473;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T;T;T;T	0.25085	3.42;1.82;2.14;3.47;3.47;3.47;3.47;3.42	2.7	-4.8	0.03190	.	.	.	.	.	T	0.08133	0.0203	M	0.66939	2.045	0.09310	N	1	B;B;B	0.24823	0.019;0.112;0.019	B;B;B	0.17722	0.007;0.019;0.007	T	0.35101	-0.9802	9	0.46703	T	0.11	.	4.702	0.12832	0.2435:0.4226:0.334:0.0	.	101;97;97	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	N	97;97;97;97;97;97;97;101	ENSP00000352740:K97N;ENSP00000406406:K97N;ENSP00000407052:K97N;ENSP00000295809:K97N;ENSP00000342741:K97N;ENSP00000357113:K97N;ENSP00000357114:K97N;ENSP00000394935:K101N	ENSP00000295809:K97N	K	+	3	2	IFI16	157252311	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.564000	0.02152	-0.937000	0.03719	0.455000	0.32223	AAG	IFI16	-	NULL	ENSG00000163565		0.453	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	30	0.00	0	G	NM_005531		158985687	158985687	+1	no_errors	ENST00000295809	ensembl	human	known	69_37n	missense	29	27.50	11	SNP	0.000	C
IGKV2D-30	28881	genome.wustl.edu	37	2	89976205	89976205	+	RNA	SNP	C	C	G			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr2:89976205C>G	ENST00000474213.1	+	0	111									immunoglobulin kappa variable 2D-30																		TGTGATGACTCAGTCTCCACT	0.428																																						dbGAP											0													12.0	14.0	13.0					2																	89976205		1778	4007	5785	-	-	-			0			X63402		2p11.2	2012-02-08			ENSG00000239571	ENSG00000239571		"""Immunoglobulins / IGK locus"""	5801	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151613		2.37:g.89976205C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.Q26E	ENST00000474213.1	37	c.76		2																																																																																			IGKV2D-30	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000239571		0.428	IGKV2D-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV2D-30	HGNC	IG_V_gene	OTTHUMT00000323285.1	31	0.00	0	C	NG_000833		89976205	89976205	+1	no_stop_codon	ENST00000474213	ensembl	human	known	69_37n	missense	21	38.24	13	SNP	1.000	G
KNDC1	85442	genome.wustl.edu	37	10	135025332	135025332	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr10:135025332G>C	ENST00000304613.3	+	23	4227	c.4206G>C	c.(4204-4206)aaG>aaC	p.K1402N	KNDC1_ENST00000368572.2_Missense_Mutation_p.K1404N			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1402					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCCTCTGTAAGAGGCTCTCAG	0.657																																						dbGAP											0													47.0	44.0	45.0					10																	135025332		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4206G>C	10.37:g.135025332G>C	ENSP00000304437:p.Lys1402Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.K1404N	ENST00000304613.3	37	c.4212	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686444	0.47991	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.13420	2.59;2.59	3.34	3.34	0.38264	Ras guanine nucleotide exchange factor, domain (1);	1.279940	0.05728	U	0.599133	T	0.14184	0.0343	L	0.29908	0.895	0.28286	N	0.923776	D	0.54601	0.967	P	0.47102	0.537	T	0.09487	-1.0672	10	0.22109	T	0.4	-12.5567	8.5812	0.33630	0.0:0.0:0.7695:0.2305	.	1402	Q76NI1	VKIND_HUMAN	N	1402;1404	ENSP00000304437:K1402N;ENSP00000357561:K1404N	ENSP00000304437:K1402N	K	+	3	2	KNDC1	134875322	1.000000	0.71417	0.977000	0.42913	0.670000	0.39368	2.149000	0.42244	1.828000	0.53243	0.282000	0.19409	AAG	KNDC1	-	superfamily_Ras_GEF_dom	ENSG00000171798		0.657	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	12	0.00	0	G	NM_152643		135025332	135025332	+1	no_errors	ENST00000368572	ensembl	human	known	69_37n	missense	4	50.00	4	SNP	0.987	C
KRT79	338785	genome.wustl.edu	37	12	53227620	53227620	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr12:53227620T>C	ENST00000330553.5	-	1	459	c.425A>G	c.(424-426)gAg>gGg	p.E142G		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	142	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGCTCCCGCTCCTGAGTGCG	0.602																																						dbGAP											0													124.0	122.0	122.0					12																	53227620		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.425A>G	12.37:g.53227620T>C	ENSP00000328358:p.Glu142Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P465|Q7Z793	Missense_Mutation	SNP	pfam_F,superfamily_STAT_TF_coiled-coil,prints_Keratin_II	p.E142G	ENST00000330553.5	37	c.425	CCDS8839.1	12	.	.	.	.	.	.	.	.	.	.	T	24.7	4.565686	0.86439	.	.	ENSG00000185640	ENST00000330553	D	0.93953	-3.32	4.26	4.26	0.50523	Filament (1);	0.000000	0.49305	D	0.000154	D	0.97614	0.9218	H	0.97131	3.945	0.48511	D	0.999661	D	0.69078	0.997	D	0.70487	0.969	D	0.98556	1.0639	10	0.87932	D	0	.	13.5492	0.61721	0.0:0.0:0.0:1.0	.	142	Q5XKE5	K2C79_HUMAN	G	142	ENSP00000328358:E142G	ENSP00000328358:E142G	E	-	2	0	KRT79	51513887	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.082000	0.71318	2.134000	0.65973	0.482000	0.46254	GAG	KRT79	-	pfam_F	ENSG00000185640		0.602	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT79	HGNC	protein_coding	OTTHUMT00000406376.1	50	0.00	0	T	NM_175834		53227620	53227620	-1	no_errors	ENST00000330553	ensembl	human	known	69_37n	missense	39	23.53	12	SNP	1.000	C
LRP1B	53353	genome.wustl.edu	37	2	141806595	141806595	+	Silent	SNP	C	C	T			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr2:141806595C>T	ENST00000389484.3	-	11	2720	c.1749G>A	c.(1747-1749)caG>caA	p.Q583Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	583					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCTATCTTCTGCCGGCCAA	0.423										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													162.0	150.0	154.0					2																	141806595		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1749G>A	2.37:g.141806595C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.Q583	ENST00000389484.3	37	c.1749	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000168702		0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	71	0.00	0	C	NM_018557		141806595	141806595	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	silent	71	28.28	28	SNP	1.000	T
LYSMD3	116068	genome.wustl.edu	37	5	89814775	89814775	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr5:89814775G>C	ENST00000315948.6	-	3	926	c.782C>G	c.(781-783)tCa>tGa	p.S261*	LYSMD3_ENST00000500869.2_Missense_Mutation_p.Q103E|LYSMD3_ENST00000509384.1_3'UTR	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	261						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TGTGATTTTTGAATGTAAATG	0.343																																						dbGAP											0													132.0	122.0	125.0					5																	89814775		1890	4123	6013	-	-	-	SO:0001587	stop_gained	0			BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.782C>G	5.37:g.89814775G>C	ENSP00000314518:p.Ser261*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9U0|Q6PEK0|Q9NTE9	Nonsense_Mutation	SNP	pfam_Peptidoglycan-bd_lysin,smart_Peptidoglycan-bd_Lysin_subgr	p.S261*	ENST00000315948.6	37	c.782	CCDS43338.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.608474|4.608474	0.87258|0.87258	.|.	.|.	ENSG00000176018|ENSG00000176018;ENSG00000259141	ENST00000500869|ENST00000315948;ENST00000554351	.|.	.|.	.|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.382752	.|0.26979	.|N	.|0.021525	T|.	0.70885|.	0.3275|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.26547|.	0.152|.	B|.	0.28011|.	0.085|.	T|.	0.69591|.	-0.5104|.	7|.	0.34782|0.44086	T|T	0.22|0.13	-2.523|-2.523	13.562|13.562	0.61795|0.61795	0.0737:0.0:0.9263:0.0|0.0737:0.0:0.9263:0.0	.|.	103|.	Q7Z3D4-3|.	.|.	E|X	103|261	.|.	ENSP00000427020:Q103E|ENSP00000314518:S261X	Q|S	-|-	1|2	0|0	LYSMD3|AC027323.1;LYSMD3	89850531|89850531	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.752000|0.752000	0.42762|0.42762	3.895000|3.895000	0.56258|0.56258	2.751000|2.751000	0.94390|0.94390	0.591000|0.591000	0.81541|0.81541	CAA|TCA	LYSMD3	-	NULL	ENSG00000176018		0.343	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYSMD3	HGNC	protein_coding	OTTHUMT00000369987.2	62	0.00	0	G	XM_371760		89814775	89814775	-1	no_errors	ENST00000315948	ensembl	human	known	69_37n	nonsense	43	33.85	22	SNP	1.000	C
MGEA5	10724	genome.wustl.edu	37	10	103563692	103563692	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr10:103563692T>A	ENST00000361464.3	-	7	1231	c.836A>T	c.(835-837)gAt>gTt	p.D279V	MGEA5_ENST00000439817.1_Missense_Mutation_p.D279V|MGEA5_ENST00000370094.3_Missense_Mutation_p.D279V|MGEA5_ENST00000357797.5_Missense_Mutation_p.D279V	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	279	Substrate binding. {ECO:0000250|UniProtKB:Q2CEE3}.				aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		ATGAATGTTATCCCAGATTAC	0.403																																						dbGAP											0													140.0	140.0	140.0					10																	103563692		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.836A>T	10.37:g.103563692T>A	ENSP00000354850:p.Asp279Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase	p.D279V	ENST00000361464.3	37	c.836	CCDS7520.1	10	.	.	.	.	.	.	.	.	.	.	T	29.0	4.968292	0.92855	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094;ENST00000429860	T;T;T;T	0.42900	1.09;0.99;1.13;0.96	6.03	6.03	0.97812	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71091	0.3299	M	0.89030	3	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	0.77133	-0.2700	10	0.87932	D	0	-20.0008	16.5582	0.84512	0.0:0.0:0.0:1.0	.	279;279;279;279	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	V	279;279;279;279;194	ENSP00000409973:D279V;ENSP00000354850:D279V;ENSP00000350445:D279V;ENSP00000359112:D279V	ENSP00000350445:D279V	D	-	2	0	MGEA5	103553682	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.985000	0.88162	2.308000	0.77769	0.533000	0.62120	GAT	MGEA5	-	pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF	ENSG00000198408		0.403	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MGEA5	HGNC	protein_coding	OTTHUMT00000049987.1	60	0.00	0	T	NM_012215		103563692	103563692	-1	no_errors	ENST00000361464	ensembl	human	known	69_37n	missense	41	31.67	19	SNP	1.000	A
MUC16	94025	genome.wustl.edu	37	19	9076601	9076601	+	Silent	SNP	T	T	G			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr19:9076601T>G	ENST00000397910.4	-	3	11048	c.10845A>C	c.(10843-10845)acA>acC	p.T3615T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3616	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAATGAAGTTGTATGCATTG	0.463																																						dbGAP											0													176.0	181.0	179.0					19																	9076601		1988	4170	6158	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10845A>C	19.37:g.9076601T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T3615	ENST00000397910.4	37	c.10845	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	83	0.00	0	T	NM_024690		9076601	9076601	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	45	26.23	16	SNP	0.036	G
MUC6	4588	genome.wustl.edu	37	11	1016406	1016406	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr11:1016406G>A	ENST00000421673.2	-	31	6445	c.6395C>T	c.(6394-6396)tCt>tTt	p.S2132F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2132	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGACTGGGAGAAAATGAGGA	0.522																																						dbGAP											0													91.0	96.0	94.0					11																	1016406		2059	4196	6255	-	-	-	SO:0001583	missense	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6395C>T	11.37:g.1016406G>A	ENSP00000406861:p.Ser2132Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.S2132F	ENST00000421673.2	37	c.6395	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	G	0.607	-0.826542	0.02734	.	.	ENSG00000184956	ENST00000421673	T	0.17854	2.25	2.86	0.796	0.18648	.	.	.	.	.	T	0.11110	0.0271	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.27938	-1.0059	9	0.62326	D	0.03	.	7.4268	0.27105	0.2522:0.0:0.7478:0.0	.	2132	Q6W4X9	MUC6_HUMAN	F	2132	ENSP00000406861:S2132F	ENSP00000406861:S2132F	S	-	2	0	MUC6	1006406	0.000000	0.05858	0.001000	0.08648	0.278000	0.26855	-0.393000	0.07305	0.045000	0.15804	0.185000	0.17295	TCT	MUC6	-	NULL	ENSG00000184956		0.522	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	56	0.00	0	G	XM_290540		1016406	1016406	-1	no_errors	ENST00000421673	ensembl	human	known	69_37n	missense	67	28.72	27	SNP	0.014	A
NACC1	112939	genome.wustl.edu	37	19	13247176	13247176	+	Silent	SNP	C	C	G			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr19:13247176C>G	ENST00000292431.4	+	3	1203	c.1077C>G	c.(1075-1077)ctC>ctG	p.L359L		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	359					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						ACCCCAAGCTCTACGACGAGG	0.647																																						dbGAP											0													64.0	63.0	63.0					19																	13247176		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.1077C>G	19.37:g.13247176C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.L359	ENST00000292431.4	37	c.1077	CCDS12294.1	19																																																																																			NACC1	-	NULL	ENSG00000160877		0.647	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NACC1	HGNC	protein_coding	OTTHUMT00000452879.1	32	0.00	0	C	NM_052876		13247176	13247176	+1	no_errors	ENST00000292431	ensembl	human	known	69_37n	silent	11	52.17	12	SNP	1.000	G
NR3C1	2908	genome.wustl.edu	37	5	142680112	142680112	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr5:142680112G>A	ENST00000343796.2	-	5	2678	c.1685C>T	c.(1684-1686)aCg>aTg	p.T562M	NR3C1_ENST00000503201.1_Missense_Mutation_p.T562M|NR3C1_ENST00000231509.3_Missense_Mutation_p.T563M|NR3C1_ENST00000394466.2_Missense_Mutation_p.T563M|NR3C1_ENST00000415690.2_Missense_Mutation_p.T562M|NR3C1_ENST00000504336.1_5'Flank|NR3C1_ENST00000394464.2_Missense_Mutation_p.T562M|NR3C1_ENST00000416954.2_Missense_Mutation_p.T165M|NR3C1_ENST00000504572.1_Missense_Mutation_p.T563M|NR3C1_ENST00000424646.2_Missense_Mutation_p.T536M	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	562	Interaction with CLOCK.|Interaction with CRY1.|Steroid-binding.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	CATGTTGAGCGTAGTCATGAT	0.443																																						dbGAP											0													267.0	248.0	254.0					5																	142680112		2203	4300	6503	-	-	-	SO:0001583	missense	0			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.1685C>T	5.37:g.142680112G>A	ENSP00000343205:p.Thr562Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.T563M	ENST00000343796.2	37	c.1688	CCDS4278.1	5	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971865	0.92919	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;D;D;D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14	5.83	5.83	0.93111	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.257435	0.44688	D	0.000424	D	0.97879	0.9303	M	0.73598	2.24	0.80722	D	1	D;D;D	0.76494	0.998;0.993;0.999	D;P;D	0.63877	0.909;0.884;0.919	D	0.98239	1.0487	10	0.87932	D	0	.	20.126	0.97982	0.0:0.0:1.0:0.0	.	562;562;563	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	M	562;562;562;536;563;563;563;165;562	ENSP00000377977:T562M;ENSP00000343205:T562M;ENSP00000387672:T562M;ENSP00000405282:T536M;ENSP00000422518:T563M;ENSP00000377979:T563M;ENSP00000231509:T563M;ENSP00000404218:T165M;ENSP00000427672:T562M	ENSP00000231509:T563M	T	-	2	0	NR3C1	142660305	1.000000	0.71417	0.997000	0.53966	0.847000	0.48162	7.582000	0.82546	2.749000	0.94314	0.655000	0.94253	ACG	NR3C1	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000113580		0.443	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NR3C1	HGNC	protein_coding	OTTHUMT00000370829.1	54	0.00	0	G			142680112	142680112	-1	no_errors	ENST00000231509	ensembl	human	known	69_37n	missense	36	28.00	14	SNP	0.996	A
PIK3C2B	5287	genome.wustl.edu	37	1	204425124	204425125	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	G|C	G|C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr1:204425124_204425125GC>AG	ENST00000367187.3	-	12	2358_2359	c.1802_1803GC>CT	c.(1801-1803)tGC>tCT	p.C601S	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.C601S|PIK3C2B_ENST00000496872.1_5'UTR	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	601					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGAATGTGTTGCAGTACAGCTC	0.604																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1802_1803delinsAG	1.37:g.204425124_204425125delinsAG	ENSP00000356155:p.Cys601Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O95666|Q5SW99	Silent|Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.C601|p.C601S	ENST00000367187.3	37	c.1803|c.1802	CCDS1446.1	1																																																																																			PIK3C2B	-	NULL	ENSG00000133056		0.604	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	36	0.00	0	G|C	NM_002646		204425124|204425125	204425124|204425125	-1	no_errors	ENST00000367187	ensembl	human	known	69_37n	silent|missense	19|21	24.00|22.22	6	SNP	1.000	A|G
PLA2G6	8398	genome.wustl.edu	37	22	38509509	38509509	+	Silent	SNP	C	C	T			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr22:38509509C>T	ENST00000332509.3	-	15	2370	c.2187G>A	c.(2185-2187)aaG>aaA	p.K729K	PLA2G6_ENST00000335539.3_Silent_p.K675K|BAIAP2L2_ENST00000332536.5_5'Flank|BAIAP2L2_ENST00000381669.3_5'Flank|PLA2G6_ENST00000402064.1_Silent_p.K675K	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	729					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCACCACCATCTTGCCCAGTT	0.622																																						dbGAP											0													134.0	121.0	126.0					22																	38509509		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.2187G>A	22.37:g.38509509C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Silent	SNP	pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.K729	ENST00000332509.3	37	c.2187	CCDS13967.1	22																																																																																			PLA2G6	-	superfamily_Acyl_Trfase/lysoPLipase	ENSG00000184381		0.622	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G6	HGNC	protein_coding	OTTHUMT00000321860.1	38	0.00	0	C	NM_001004426		38509509	38509509	-1	no_errors	ENST00000332509	ensembl	human	known	69_37n	silent	26	23.53	8	SNP	0.997	T
PNRC1	10957	genome.wustl.edu	37	6	89793494	89793494	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr6:89793494A>C	ENST00000336032.3	+	2	680	c.563A>C	c.(562-564)aAa>aCa	p.K188T	PNRC1_ENST00000354922.3_Missense_Mutation_p.K3T|PNRC1_ENST00000369472.1_Missense_Mutation_p.K3T	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		AAGATGGGAAAATCGGAGAAA	0.338										Multiple Myeloma(7;0.094)																												dbGAP											0													48.0	47.0	47.0					6																	89793494		2203	4299	6502	-	-	-	SO:0001583	missense	0			U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"""proline rich 2"""	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.563A>C	6.37:g.89793494A>C	ENSP00000336931:p.Lys188Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Missense_Mutation	SNP	NULL	p.K188T	ENST00000336032.3	37	c.563	CCDS5018.1	6	.	.	.	.	.	.	.	.	.	.	A	16.05	3.012809	0.54468	.	.	ENSG00000146278	ENST00000369472;ENST00000336032;ENST00000354922	T;T;T	0.53640	0.8;0.61;0.8	5.6	5.6	0.85130	.	0.160526	0.53938	D	0.000044	T	0.54224	0.1845	M	0.62723	1.935	0.37065	D	0.898272	D	0.89917	1.0	D	0.77004	0.989	T	0.62158	-0.6913	10	0.59425	D	0.04	-9.4867	10.1747	0.42931	0.9257:0.0:0.0743:0.0	.	188	Q12796	PNRC1_HUMAN	T	3;188;3	ENSP00000358484:K3T;ENSP00000336931:K188T;ENSP00000347000:K3T	ENSP00000336931:K188T	K	+	2	0	PNRC1	89850213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.235000	0.58666	2.116000	0.64780	0.459000	0.35465	AAA	PNRC1	-	NULL	ENSG00000146278		0.338	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNRC1	HGNC	protein_coding	OTTHUMT00000041471.1	18	0.00	0	A	NM_006813		89793494	89793494	+1	no_errors	ENST00000336032	ensembl	human	known	69_37n	missense	15	40.00	10	SNP	1.000	C
RNF213	57674	genome.wustl.edu	37	17	78318644	78318644	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr17:78318644A>G	ENST00000582970.1	+	29	6652	c.6509A>G	c.(6508-6510)tAt>tGt	p.Y2170C	RNF213_ENST00000336301.6_Missense_Mutation_p.Y243C|RNF213_ENST00000508628.2_Missense_Mutation_p.Y2219C	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2170					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCTTACCAGTATTTAAGACGA	0.493																																						dbGAP											0													97.0	93.0	94.0					17																	78318644		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6509A>G	17.37:g.78318644A>G	ENSP00000464087:p.Tyr2170Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.Y2170C	ENST00000582970.1	37	c.6509	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	A	11.07	1.530272	0.27387	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.51325	0.71	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000002	T	0.69205	0.3085	M	0.76328	2.33	0.47341	D	0.999394	D	0.89917	1.0	D	0.87578	0.998	T	0.73424	-0.3987	10	0.87932	D	0	.	15.7201	0.77700	1.0:0.0:0.0:0.0	.	243	Q63HN8	RN213_HUMAN	C	2170;2219;243	ENSP00000338218:Y243C	ENSP00000338218:Y243C	Y	+	2	0	RNF213	75933239	1.000000	0.71417	0.116000	0.21606	0.495000	0.33615	9.206000	0.95056	2.110000	0.64415	0.533000	0.62120	TAT	RNF213	-	NULL	ENSG00000173821		0.493	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	46	0.00	0	A	NM_020914		78318644	78318644	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	missense	41	38.81	26	SNP	0.998	G
SCN5A	6331	genome.wustl.edu	37	3	38647465	38647465	+	Nonsense_Mutation	SNP	C	C	A	rs199473570		TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr3:38647465C>A	ENST00000333535.4	-	10	1464	c.1315G>T	c.(1315-1317)Gaa>Taa	p.E439*	SCN5A_ENST00000414099.2_Nonsense_Mutation_p.E439*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.E439*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.E439*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.E439*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.E439*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.E439*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.E439*|SCN5A_ENST00000413689.1_Nonsense_Mutation_p.E439*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.E439*			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	439					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TTGAGCATTTCCATGGCCTCC	0.562																																						dbGAP											0													79.0	86.0	84.0					3																	38647465		2062	4188	6250	-	-	-	SO:0001587	stop_gained	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1315G>T	3.37:g.38647465C>A	ENSP00000328968:p.Glu439*	Somatic		WXS	Illumina GAIIx	Phase_IV	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.E439*	ENST00000333535.4	37	c.1315	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	39	7.418207	0.98272	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.6787	0.95950	0.0:1.0:0.0:0.0	.	.	.	.	X	439	.	ENSP00000328968:E439X	E	-	1	0	SCN5A	38622469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.910000	0.69931	2.884000	0.98904	0.655000	0.94253	GAA	SCN5A	-	NULL	ENSG00000183873		0.562	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	33	0.00	0	C	NM_198056		38647465	38647465	-1	no_errors	ENST00000333535	ensembl	human	known	69_37n	nonsense	28	33.33	14	SNP	1.000	A
SMC4	10051	genome.wustl.edu	37	3	160148495	160148497	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	AGC	AGC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr3:160148495_160148497delAGC	ENST00000357388.3	+	19	3355_3357	c.2904_2906delAGC	c.(2902-2907)aaagca>aaa	p.A970del	SMC4_ENST00000360111.2_In_Frame_Del_p.A970del|SMC4_ENST00000462787.1_In_Frame_Del_p.A970del|SMC4_ENST00000469762.1_In_Frame_Del_p.A945del|SMC4_ENST00000344722.5_In_Frame_Del_p.A970del|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	970					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTGAGGACAAAGCAGCAGAGGTC	0.409																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2904_2906delAGC	3.37:g.160148498_160148500delAGC	ENSP00000349961:p.Ala970del	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	In_Frame_Del	DEL	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.A970in_frame_del	ENST00000357388.3	37	c.2904_2906	CCDS3189.1	3																																																																																			SMC4	-	pfam_RecF/RecN/SMC,superfamily_Prefoldin	ENSG00000113810		0.409	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	29	0.00	0	AGC			160148495	160148497	+1	no_errors	ENST00000344722	ensembl	human	known	69_37n	in_frame_del	44	21.43	12	DEL	0.369:0.991:0.993	-
SMC4	10051	genome.wustl.edu	37	3	160148940	160148941	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	AT	AT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr3:160148940_160148941delAT	ENST00000357388.3	+	20	3512_3513	c.3061_3062delAT	c.(3061-3063)atafs	p.I1021fs	SMC4_ENST00000360111.2_Intron|SMC4_ENST00000462787.1_Intron|SMC4_ENST00000469762.1_Frame_Shift_Del_p.I996fs|SMC4_ENST00000344722.5_Frame_Shift_Del_p.I1021fs|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1021					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACTTGAACAAATAGATGGTCAC	0.282																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3061_3062delAT	3.37:g.160148940_160148941delAT	ENSP00000349961:p.Ile1021fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Frame_Shift_Del	DEL	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.I1021fs	ENST00000357388.3	37	c.3061_3062	CCDS3189.1	3																																																																																			SMC4	-	pfam_RecF/RecN/SMC	ENSG00000113810		0.282	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	31	0.00	0	AT			160148940	160148941	+1	no_errors	ENST00000344722	ensembl	human	known	69_37n	frame_shift_del	16	20.00	4	DEL	0.993:1.000	-
TMCO3	55002	genome.wustl.edu	37	13	114154394	114154394	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr13:114154394A>T	ENST00000434316.2	+	4	1105	c.746A>T	c.(745-747)cAg>cTg	p.Q249L	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.Q249L	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	249						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			ATTGACTCCCAGAACAACCAG	0.463																																						dbGAP											0													128.0	125.0	126.0					13																	114154394		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.746A>T	13.37:g.114154394A>T	ENSP00000389399:p.Gln249Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	pfam_Cation/H_exchanger	p.Q249L	ENST00000434316.2	37	c.746	CCDS9537.1	13	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307196	0.60305	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.32023	1.47	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	L	0.29908	0.895	0.58432	D	0.999998	B;P	0.34864	0.342;0.473	B;B	0.27887	0.039;0.084	T	0.06954	-1.0798	10	0.72032	D	0.01	-15.6149	15.4223	0.75022	1.0:0.0:0.0:0.0	.	249;249	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	L	249	ENSP00000389399:Q249L	ENSP00000364540:Q249L	Q	+	2	0	TMCO3	113202395	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.777000	0.75028	2.098000	0.63641	0.477000	0.44152	CAG	TMCO3	-	NULL	ENSG00000150403		0.463	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO3	HGNC	protein_coding	OTTHUMT00000045931.3	56	0.00	0	A	NM_017905		114154394	114154394	+1	no_errors	ENST00000434316	ensembl	human	known	69_37n	missense	41	28.07	16	SNP	1.000	T
TP53BP1	7158	genome.wustl.edu	37	15	43701236	43701236	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr15:43701236T>C	ENST00000263801.3	-	26	5696	c.5444A>G	c.(5443-5445)tAc>tGc	p.Y1815C	TP53BP1_ENST00000382044.4_Missense_Mutation_p.Y1820C|TP53BP1_ENST00000450115.2_Missense_Mutation_p.Y1818C|TP53BP1_ENST00000382039.3_Missense_Mutation_p.Y1770C	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1815	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCACAGGAAGTACTTCCGGGT	0.483								Other conserved DNA damage response genes																														dbGAP											0													161.0	123.0	136.0					15																	43701236		2201	4298	6499	-	-	-	SO:0001583	missense	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5444A>G	15.37:g.43701236T>C	ENSP00000263801:p.Tyr1815Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.Y1820C	ENST00000263801.3	37	c.5459	CCDS10096.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.1|23.1	4.372281|4.372281	0.82573|0.82573	.|.	.|.	ENSG00000067369|ENSG00000067369	ENST00000434595|ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	.|D;D;D;D	.|0.89343	.|-2.5;-2.5;-2.5;-2.5	5.35|5.35	5.35|5.35	0.76521|0.76521	.|BRCT (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95211|0.95211	0.8447|0.8447	M|M	0.88842|0.88842	2.985|2.985	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.978;1.0	.|D;P;D	.|0.91635	.|0.998;0.851;0.999	D|D	0.96042|0.96042	0.9025|0.9025	5|10	.|0.87932	.|D	.|0	-7.0032|-7.0032	15.6244|15.6244	0.76840|0.76840	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1815;1820;1818	.|Q12888;Q12888-2;F8VY86	.|TP53B_HUMAN;.;.	A|C	140|1815;1820;1770;1818	.|ENSP00000263801:Y1815C;ENSP00000371475:Y1820C;ENSP00000371470:Y1770C;ENSP00000393497:Y1818C	.|ENSP00000263801:Y1815C	T|Y	-|-	1|2	0|0	TP53BP1|TP53BP1	41488528|41488528	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.410000|7.410000	0.80065|0.80065	2.151000|2.151000	0.67156|0.67156	0.533000|0.533000	0.62120|0.62120	ACT|TAC	TP53BP1	-	superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000067369		0.483	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	53	0.00	0	T			43701236	43701236	-1	no_errors	ENST00000382044	ensembl	human	known	69_37n	missense	32	41.82	23	SNP	1.000	C
ZNF630	57232	genome.wustl.edu	37	X	47926259	47926259	+	Splice_Site	SNP	C	C	T			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chrX:47926259C>T	ENST00000409324.3	-	2	242		c.e2+1		ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_Splice_Site|ZNF630_ENST00000442455.3_Splice_Site	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630						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(1)|large_intestine(6)|lung(11)|ovary(1)	19						AAATAACTTACCTGGGACTCA	0.408																																						dbGAP											0													131.0	113.0	118.0					X																	47926259		1560	3575	5135	-	-	-	SO:0001630	splice_region_variant	0			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.15+1G>A	X.37:g.47926259C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	F8WAG4|Q5H8Z5	Splice_Site	SNP	-	e1+1	ENST00000409324.3	37	c.15+1	CCDS35237.2	X	.	.	.	.	.	.	.	.	.	.	C	0.298	-0.975912	0.02215	.	.	ENSG00000221994	ENST00000442455;ENST00000409324;ENST00000428686	.	.	.	2.57	0.59	0.17458	.	.	.	.	.	.	.	.	.	.	.	0.27474	N	0.952788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.2716	0.06884	0.0:0.5525:0.2735:0.1741	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF630	47811203	0.021000	0.18746	0.010000	0.14722	0.219000	0.24729	-1.174000	0.03105	0.049000	0.15920	0.591000	0.81541	.	ZNF630	-	-	ENSG00000221994		0.408	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	HGNC	protein_coding	OTTHUMT00000327254.1	76	0.00	0	C	NM_001037735	Intron	47926259	47926259	-1	no_errors	ENST00000409324	ensembl	human	known	69_37n	splice_site	51	36.25	29	SNP	0.010	T
VSIG1	340547	genome.wustl.edu	37	X	107316026	107316026	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chrX:107316026G>C	ENST00000217957.5	+	4	649	c.532G>C	c.(532-534)Gag>Cag	p.E178Q	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000415430.3_Missense_Mutation_p.E214Q	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	178	Ig-like C2-type 2.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GCATAAACTTGAGGGAAGAGA	0.493																																						dbGAP											0													183.0	142.0	156.0					X																	107316026		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.532G>C	X.37:g.107316026G>C	ENSP00000217957:p.Glu178Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J4P2|Q6MZS4	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E214Q	ENST00000217957.5	37	c.640	CCDS14535.1	X	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419046	0.25552	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.15718	2.4;2.4	5.01	4.14	0.48551	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.193673	0.42682	N	0.000664	T	0.16642	0.0400	L	0.46157	1.445	0.30718	N	0.748539	P;P	0.41498	0.752;0.581	B;B	0.43508	0.422;0.321	T	0.06197	-1.0840	10	0.28530	T	0.3	.	7.5028	0.27528	0.0:0.1796:0.631:0.1894	.	214;178	C9J4P2;Q86XK7	.;VSIG1_HUMAN	Q	214;178	ENSP00000402219:E214Q;ENSP00000217957:E178Q	ENSP00000217957:E178Q	E	+	1	0	VSIG1	107202682	0.718000	0.27976	0.955000	0.39395	0.030000	0.12068	0.852000	0.27764	1.198000	0.43158	-0.229000	0.12294	GAG	VSIG1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000101842		0.493	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VSIG1	HGNC	protein_coding	OTTHUMT00000057858.1	56	0.00	0	G	NM_182607		107316026	107316026	+1	no_errors	ENST00000415430	ensembl	human	known	69_37n	missense	54	32.50	26	SNP	0.923	C
ZNF816	125893	genome.wustl.edu	37	19	53453802	53453802	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A1LB-01A-11D-A142-09	TCGA-E2-A1LB-11A-22D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	377b1816-61e1-431a-9952-71e4d58bbd48	f159d3d3-831d-47ee-8fb0-7665405a5581	g.chr19:53453802C>A	ENST00000357666.4	-	5	1526	c.1226G>T	c.(1225-1227)aGa>aTa	p.R409I	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.R409I	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	409					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)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						AAGGTGTGATCTGCGAATGTA	0.393																																						dbGAP											0													121.0	121.0	121.0					19																	53453802		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1226G>T	19.37:g.53453802C>A	ENSP00000350295:p.Arg409Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7H5|Q3KR39|Q659B3	Missense_Mutation	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.R409I	ENST00000357666.4	37	c.1226	CCDS33096.1	19	.	.	.	.	.	.	.	.	.	.	-	5.234	0.228638	0.09916	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.15487	2.42;2.42	1.79	-0.719	0.11201	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14056	0.0340	L	0.58925	1.835	0.09310	N	1	P	0.38078	0.617	B	0.35039	0.194	T	0.16041	-1.0416	9	0.33940	T	0.23	.	5.9157	0.19053	0.0:0.5363:0.0:0.4637	.	409	Q0VGE8	ZN816_HUMAN	I	409	ENSP00000350295:R409I;ENSP00000403266:R409I	ENSP00000350295:R409I	R	-	2	0	ZNF816	58145614	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-3.897000	0.00339	-0.327000	0.08551	0.205000	0.17691	AGA	ZNF816	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180257		0.393	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF816	HGNC	protein_coding	OTTHUMT00000396132.1	66	0.00	0	C	NM_001031665		53453802	53453802	-1	no_errors	ENST00000357666	ensembl	human	known	69_37n	missense	43	34.33	23	SNP	0.000	A
