#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_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	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_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
DNAH5	1767	genome.wustl.edu	37	5	13811901	13811901	+	Missense_Mutation	SNP	G	G	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr5:13811901G>T	ENST00000265104.4	-	44	7366	c.7262C>A	c.(7261-7263)gCa>gAa	p.A2421E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2421	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGAATTTCTGCTTCTTGAGG	0.433									Kartagener syndrome																																								0								ENSG00000039139						75.0	74.0	74.0					5																	13811901		2203	4300	6503	DNAH5	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7262C>A	5.37:g.13811901G>T	ENSP00000265104:p.Ala2421Glu	Somatic	0	26	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A2421E	ENST00000265104.4	37	c.7262	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032141	0.54790	.	.	ENSG00000039139	ENST00000265104	T	0.15372	2.43	5.78	5.78	0.91487	.	0.103318	0.64402	D	0.000003	T	0.32585	0.0834	M	0.86953	2.85	0.58432	D	0.999996	B	0.25007	0.116	B	0.28553	0.091	T	0.11941	-1.0567	10	0.38643	T	0.18	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	2421	Q8TE73	DYH5_HUMAN	E	2421	ENSP00000265104:A2421E	ENSP00000265104:A2421E	A	-	2	0	DNAH5	13864901	1.000000	0.71417	0.963000	0.40424	0.918000	0.54935	5.195000	0.65131	2.729000	0.93468	0.650000	0.86243	GCA	-	NULL		0.433	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	G	NM_001369	-		13811901	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	SNP	0.996	T
OSBP2	23762	genome.wustl.edu	37	22	31091420	31091420	+	Missense_Mutation	SNP	C	C	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr22:31091420C>T	ENST00000332585.6	+	1	628	c.524C>T	c.(523-525)gCc>gTc	p.A175V	OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000382310.3_Missense_Mutation_p.A175V|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000446658.2_Missense_Mutation_p.A175V	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	175					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						ACCTCCAGTGCCCCACTGGCC	0.612																																																	0								ENSG00000184792						48.0	52.0	50.0					22																	31091420		2044	4181	6225	OSBP2	SO:0001583	missense	0			-	HGNC		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.524C>T	22.37:g.31091420C>T	ENSP00000332576:p.Ala175Val	Somatic	0	23	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A175V	ENST00000332585.6	37	c.524	CCDS43002.1	22	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515255	0.44763	.	.	ENSG00000184792	ENST00000332585;ENST00000382310;ENST00000446658	T;T;T	0.31247	1.51;1.5;1.51	3.58	1.02	0.19986	.	8.728570	0.00496	N	0.000153	T	0.18425	0.0442	N	0.12182	0.205	0.30283	N	0.791103	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.23904	-1.0175	10	0.17369	T	0.5	.	7.059	0.25115	0.0:0.6901:0.0:0.3099	.	175;175;175	B4DFA8;Q0VF99;Q969R2	.;.;OSBP2_HUMAN	V	175	ENSP00000332576:A175V;ENSP00000371747:A175V;ENSP00000392080:A175V	ENSP00000332576:A175V	A	+	2	0	OSBP2	29421420	0.000000	0.05858	0.014000	0.15608	0.594000	0.36715	0.797000	0.26999	0.289000	0.22422	0.655000	0.94253	GCC	-	NULL		0.612	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBP2	protein_coding	OTTHUMT00000321547.2	C	NM_030758	-		31091420	+1	no_errors	ENST00000332585	ensembl	human	known	74_37	missense	SNP	0.100	T
PIK3CA	5290	genome.wustl.edu	37	3	178952146	178952147	+	Frame_Shift_Ins	INS	-	-	A			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr3:178952146_178952147insA	ENST00000263967.3	+	21	3358_3359	c.3201_3202insA	c.(3202-3204)aacfs	p.N1068fs	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1068	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGCATGCATTGAACTGAAAAGA	0.396		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0								ENSG00000121879																																			PIK3CA	SO:0001589	frameshift_variant	0				HGNC		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3203dupA	3.37:g.178952148_178952148dupA	ENSP00000263967:p.Asn1068fs	Somatic	0	15	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	14	36.36	Q14CW1|Q99762	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.N1067fs	ENST00000263967.3	37	c.3201_3202	CCDS43171.1	3																																																																																			-	pfscan_PI3/4_kinase_cat_dom		0.396	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	protein_coding	OTTHUMT00000348409.2	-				178952147	+1	no_errors	ENST00000263967	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A
PTEN	5728	genome.wustl.edu	37	10	89692818	89692818	+	Missense_Mutation	SNP	T	T	C			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr10:89692818T>C	ENST00000371953.3	+	5	1659	c.302T>C	c.(301-303)aTc>aCc	p.I101T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	101	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.I101T(7)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.H93fs*5(1)|p.I101del(1)|p.I101N(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAGAACTTATCAAACCCTTT	0.368		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	60	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Missense(8)|Unknown(5)|Deletion - In frame(1)	central_nervous_system(18)|prostate(17)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|large_intestine(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	GRCh37	CX983284	PTEN	X		ENSG00000171862						110.0	103.0	105.0					10																	89692818		2203	4298	6501	PTEN	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	-	HGNC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.302T>C	10.37:g.89692818T>C	ENSP00000361021:p.Ile101Thr	Somatic	0	55	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	46	28.12	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.I101T	ENST00000371953.3	37	c.302	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412660	0.83340	.	.	ENSG00000171862	ENST00000371953	D	0.98762	-5.12	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99108	0.9693	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99521	1.0958	9	.	.	.	-2.2759	14.8407	0.70220	0.0:0.0:0.0:1.0	.	101	P60484	PTEN_HUMAN	T	101	ENSP00000361021:I101T	.	I	+	2	0	PTEN	89682798	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.658000	0.83755	1.880000	0.54463	0.533000	0.62120	ATC	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	protein_coding	OTTHUMT00000049241.1	T	NM_000314	-		89692818	+1	no_errors	ENST00000371953	ensembl	human	known	74_37	missense	SNP	1.000	C
VAV2	7410	genome.wustl.edu	37	9	136857268	136857268	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr9:136857268G>A	ENST00000371850.3	-	1	164	c.133C>T	c.(133-135)Cag>Tag	p.Q45*	VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000371851.1_Nonsense_Mutation_p.Q45*|VAV2_ENST00000406606.3_Nonsense_Mutation_p.Q45*	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	45	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TGCAGCAGCTGGCACAGAAGG	0.701																																																	0								ENSG00000160293						21.0	21.0	21.0					9																	136857268		2194	4297	6491	VAV2	SO:0001587	stop_gained	0			-	HGNC		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.133C>T	9.37:g.136857268G>A	ENSP00000360916:p.Gln45*	Somatic	0	29	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain	p.Q45*	ENST00000371850.3	37	c.133	CCDS48053.1	9	.	.	.	.	.	.	.	.	.	.	G	37	6.524962	0.97637	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	.	.	.	3.55	2.63	0.31362	.	0.000000	0.45126	U	0.000389	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	9.6364	0.39811	0.1082:0.0:0.8918:0.0	.	.	.	.	X	45	.	ENSP00000317258:Q45X	Q	-	1	0	VAV2	135847089	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	5.671000	0.68095	0.459000	0.27016	0.185000	0.17295	CAG	-	pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.701	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	protein_coding	OTTHUMT00000054939.1	G		-		136857268	-1	no_errors	ENST00000371850	ensembl	human	known	74_37	nonsense	SNP	1.000	A
TXNDC5	81567	genome.wustl.edu	37	6	7884718	7884718	+	Silent	SNP	A	A	G			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr6:7884718A>G	ENST00000379757.4	-	9	1087	c.1050T>C	c.(1048-1050)tgT>tgC	p.C350C	TXNDC5_ENST00000539054.1_Silent_p.C278C|TXNDC5_ENST00000473453.1_Silent_p.C242C|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	350	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TACAATGACCACACCTAAGAC	0.498																																					Ovarian(119;1430 1625 3928 26125 34589)												0								ENSG00000239264						67.0	62.0	64.0					6																	7884718		2203	4300	6503	TXNDC5	SO:0001819	synonymous_variant	0			-	HGNC	AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.1050T>C	6.37:g.7884718A>G		Somatic	0	32	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.C350	ENST00000379757.4	37	c.1050	CCDS4505.1	6																																																																																			-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin		0.498	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC5	protein_coding	OTTHUMT00000039792.1	A	NM_030810	-		7884718	-1	no_errors	ENST00000379757	ensembl	human	known	74_37	silent	SNP	0.986	G
CCDC146	57639	genome.wustl.edu	37	7	76866305	76866305	+	Silent	SNP	G	G	A	rs535901399	byFrequency	TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr7:76866305G>A	ENST00000285871.4	+	3	325	c.198G>A	c.(196-198)gcG>gcA	p.A66A	CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	66										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GAATGGCAGCGTTAAAAGCCA	0.408													G|||	2	0.000399361	0.0	0.0	5008	,	,		22444	0.0		0.0	False		,,,				2504	0.002																0								ENSG00000135205						197.0	147.0	164.0					7																	76866305		2203	4300	6503	CCDC146	SO:0001819	synonymous_variant	0			-	HGNC	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.198G>A	7.37:g.76866305G>A		Somatic	0	33	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	19	56.82	A8K8X6|Q9P223	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A66	ENST00000285871.4	37	c.198	CCDS34671.1	7																																																																																			-	NULL		0.408	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	protein_coding	OTTHUMT00000341449.1	G	NM_020879	-		76866305	+1	no_errors	ENST00000285871	ensembl	human	known	74_37	silent	SNP	1.000	A
WWC2	80014	genome.wustl.edu	37	4	184019469	184019469	+	5'Flank	SNP	C	C	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr4:184019469C>T	ENST00000403733.3	+	0	0				WWC2_ENST00000378925.3_5'Flank|WWC2-AS2_ENST00000578387.1_lincRNA|WWC2_ENST00000513834.1_5'Flank|WWC2_ENST00000448232.2_5'Flank	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2						negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CCGGCGTGGCCGCCCACACCT	0.756																																																	0								ENSG00000251359						1.0	2.0	2.0					4																	184019469		290	902	1192	WWC2-AS2	SO:0001631	upstream_gene_variant	0			-	HGNC	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685		4.37:g.184019469C>T	Exception_encountered	Somatic	0	21	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000403733.3	37	NULL	CCDS34109.2	4	.	.	.	.	.	.	.	.	.	.	C	8.747	0.920341	0.17982	.	.	ENSG00000251359	ENST00000506413	.	.	.	3.25	-0.717	0.11208	.	.	.	.	.	T	0.29158	0.0725	.	.	.	.	.	.	D	0.55172	0.97	P	0.44732	0.459	T	0.33420	-0.9869	6	0.87932	D	0	.	3.9566	0.09393	0.0:0.3163:0.3541:0.3295	.	91	Q96NR7	CD038_HUMAN	Q	91	.	ENSP00000421843:R91Q	R	-	2	0	C4orf38	184256463	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.560000	0.02160	-0.198000	0.10333	-0.258000	0.10820	CGG	-	-		0.756	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC2-AS2	protein_coding	OTTHUMT00000319608.1	C	NM_024949	-		184019469	-1	no_errors	ENST00000506413	ensembl	human	known	74_37	rna	SNP	0.000	T
TRIM6	117854	genome.wustl.edu	37	11	5632583	5632583	+	3'UTR	SNP	G	G	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr11:5632583G>T	ENST00000278302.5	+	0	1618				AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000507320.1_3'UTR|TRIM6_ENST00000380097.3_3'UTR|TRIM6_ENST00000380107.1_3'UTR|TRIM6_ENST00000481603.1_3'UTR|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000445329.1_3'UTR|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000506134.1_3'UTR	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6						protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATATTCTTCTGTTCCCACCCA	0.383																																																	0								ENSG00000121236						88.0	86.0	87.0					11																	5632583		2200	4297	6497	TRIM6	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.*11G>T	11.37:g.5632583G>T		Somatic	0	39	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000278302.5	37	NULL	CCDS31390.1	11																																																																																			-	-		0.383	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM6	protein_coding	OTTHUMT00000143376.2	G	NM_001003818	-		5632583	+1	no_errors	ENST00000481603	ensembl	human	known	74_37	rna	SNP	0.001	T
ZNF271	10778	genome.wustl.edu	37	18	32888074	32888074	+	RNA	SNP	T	T	A			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr18:32888074T>A	ENST00000399070.3	+	0	2468					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						cctgtctatttaaaaaaaaaa	0.388																																																	0								ENSG00000257267																																			ZNF271			0			-	HGNC	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32888074T>A		Somatic	0	39	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58	B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000399070.3	37	NULL		18																																																																																			-	-		0.388	ZNF271-002	KNOWN	basic	processed_transcript	ZNF271	pseudogene	OTTHUMT00000255767.2	T	NR_024565	-		32888074	+1	no_errors	ENST00000399070	ensembl	human	known	74_37	rna	SNP	0.004	A
SCG3	29106	genome.wustl.edu	37	15	51987960	51987960	+	Intron	DEL	A	A	-	rs78233272|rs370571693		TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr15:51987960delA	ENST00000220478.3	+	8	1271				RP11-313P18.2_ENST00000559918.1_lincRNA|SCG3_ENST00000542355.2_Intron	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III						blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ctcgtctttgaaaaaaaaaaa	0.403																																																	0								ENSG00000259241																																			RP11-313P18.2	SO:0001627	intron_variant	0				Clone_based_vega_gene	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.869-112A>-	15.37:g.51987960delA		Somatic	0	12	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000220478.3	37	NULL	CCDS10142.1	15																																																																																			-	-		0.403	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000259241	protein_coding	OTTHUMT00000254670.2	A	NM_013243			51987960	-1	no_errors	ENST00000559918	ensembl	human	known	74_37	rna	DEL	0.006	-
MMP26	56547	genome.wustl.edu	37	11	4825844	4825844	+	Intron	SNP	A	A	G			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr11:4825844A>G	ENST00000380390.1	+	1	72				OR52R1_ENST00000380382.1_Missense_Mutation_p.F2L|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_5'Flank			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26						collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	ATGGGGTAGAACATACTAGTT	0.328																																																	0								ENSG00000176937						32.0	30.0	31.0					11																	4825844		2199	4298	6497	OR52R1	SO:0001627	intron_variant	0			-	HGNC	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.-145+37273A>G	11.37:g.4825844A>G		Somatic	0	42	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	18	53.85	Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F2L	ENST00000380390.1	37	c.4	CCDS7752.1	11	.	.	.	.	.	.	.	.	.	.	A	8.194	0.796611	0.16327	.	.	ENSG00000176937	ENST00000380382	T	0.00369	7.74	4.13	-2.79	0.05841	.	.	.	.	.	T	0.00144	0.0004	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.14392	-1.0474	5	.	.	.	.	0.8721	0.01216	0.3257:0.3244:0.1922:0.1577	.	.	.	.	L	2	ENSP00000369742:F2L	.	F	-	1	0	OR52R1	4782420	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.100000	0.15231	-0.523000	0.06409	-0.503000	0.04515	TTC	-	NULL		0.328	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52R1	protein_coding	OTTHUMT00000142058.3	A	NM_021801	-		4825844	-1	no_errors	ENST00000380382	ensembl	human	known	74_37	missense	SNP	0.000	G
TPRKB	51002	genome.wustl.edu	37	2	73957880	73957881	+	Intron	INS	-	-	A	rs373860849		TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr2:73957880_73957881insA	ENST00000272424.5	-	4	371				TPRKB_ENST00000485758.1_5'UTR|TPRKB_ENST00000318190.7_Intron|TPRKB_ENST00000409716.2_Intron	NM_016058.2	NP_057142.1	Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein						tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			lung(2)|ovary(1)|skin(1)	4						GAAAAAAAATGAAAAAAAAAAC	0.327																																																	0								ENSG00000144034																																			TPRKB	SO:0001627	intron_variant	0				HGNC	AY157986	CCDS1927.1	2p24.3-p24.1	2008-02-05			ENSG00000144034	ENSG00000144034			24259	protein-coding gene	gene with protein product		608680				10810093, 12659830	Standard	NM_016058		Approved	CGI-121	uc002sjn.2	Q9Y3C4	OTTHUMG00000129815	ENST00000272424.5:c.265-17->T	2.37:g.73957890_73957890dupA		Somatic	0	26	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	D6W5H6|Q8IWR6|Q8IWR7|Q9H3K4	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000272424.5	37	NULL	CCDS1927.1	2																																																																																			-	-		0.327	TPRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPRKB	protein_coding	OTTHUMT00000252046.2	-	NM_016058			73957881	-1	no_errors	ENST00000485758	ensembl	human	putative	74_37	rna	INS	0.000:0.004	A
DNAH6	1768	genome.wustl.edu	37	2	84745169	84745169	+	Missense_Mutation	SNP	G	G	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr2:84745169G>T	ENST00000237449.6	+	1	227	c.219G>T	c.(217-219)gaG>gaT	p.E73D	DNAH6_ENST00000468661.1_3'UTR|DNAH6_ENST00000398278.2_Missense_Mutation_p.E73D|DNAH6_ENST00000389394.3_Missense_Mutation_p.E73D			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	73	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TAAAACTAGAGCCTTTGGTAA	0.398																																																	0								ENSG00000115423						17.0	16.0	16.0					2																	84745169		690	1587	2277	DNAH6	SO:0001583	missense	0			-	HGNC	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.219G>T	2.37:g.84745169G>T	ENSP00000237449:p.Glu73Asp	Somatic	0	29	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E73D	ENST00000237449.6	37	c.219	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821414	0.71028	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.29917	1.55;1.69;1.55	5.71	2.57	0.30868	.	.	.	.	.	T	0.32912	0.0845	N	0.14661	0.345	0.25702	N	0.985574	D	0.58970	0.984	D	0.68192	0.956	T	0.10086	-1.0645	9	0.45353	T	0.12	.	7.8342	0.29360	0.3252:0.0:0.6748:0.0	.	73	Q9C0G6	DYH6_HUMAN	D	73	ENSP00000374045:E73D;ENSP00000381326:E73D;ENSP00000237449:E73D	ENSP00000237449:E73D	E	+	3	2	DNAH6	84598680	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	0.523000	0.22925	0.782000	0.33613	0.591000	0.81541	GAG	-	NULL		0.398	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	protein_coding	OTTHUMT00000328537.2	G	NM_001370	-		84745169	+1	no_errors	ENST00000237449	ensembl	human	known	74_37	missense	SNP	1.000	T
MPHOSPH8	54737	genome.wustl.edu	37	13	20224332	20224332	+	Missense_Mutation	SNP	G	G	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr13:20224332G>T	ENST00000361479.5	+	5	1576	c.1508G>T	c.(1507-1509)tGg>tTg	p.W503L	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.W503L	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	503					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ACGGATACTTGGGCATACATT	0.403																																																	0								ENSG00000196199						146.0	121.0	129.0					13																	20224332		2203	4300	6503	MPHOSPH8	SO:0001583	missense	0			-	HGNC	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1508G>T	13.37:g.20224332G>T	ENSP00000355388:p.Trp503Leu	Somatic	0	56	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.16	B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow	p.W503L	ENST00000361479.5	37	c.1508	CCDS9287.1	13	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242157	0.58995	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.34859	1.35;1.34	5.66	5.66	0.87406	.	0.076157	0.56097	D	0.000028	T	0.55321	0.1913	L	0.59436	1.845	0.51233	D	0.999918	D;P;D	0.89917	1.0;0.956;0.999	D;P;D	0.87578	0.998;0.644;0.974	T	0.40646	-0.9552	10	0.08381	T	0.77	.	20.0973	0.97856	0.0:0.0:1.0:0.0	.	503;503;503	F5H8H9;Q99549;Q99549-2	.;MPP8_HUMAN;.	L	503	ENSP00000414663:W503L;ENSP00000355388:W503L	ENSP00000355388:W503L	W	+	2	0	MPHOSPH8	19122332	1.000000	0.71417	0.995000	0.50966	0.100000	0.18952	5.233000	0.65337	2.830000	0.97506	0.585000	0.79938	TGG	-	NULL		0.403	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	protein_coding	OTTHUMT00000044028.2	G	NM_017520	-		20224332	+1	no_errors	ENST00000414242	ensembl	human	known	74_37	missense	SNP	1.000	T
MT-CO2	4513	genome.wustl.edu	37	M	7814	7814	+	Missense_Mutation	SNP	G	G	A			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chrM:7814G>A	ENST00000361739.1	+	1	229	c.229G>A	c.(229-231)Gcc>Acc	p.A77T	MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	77					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						TAGTCCTCATCGCCCTCCCAT	0.468																																																	0								ENSG00000198712																																			MT-CO2	SO:0001583	missense	0			-	HGNC			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.229G>A	M.37:g.7814G>A	ENSP00000354876:p.Ala77Thr	Somatic	0	833	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	1160	120	89.64	Q37526	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2	p.A77T	ENST00000361739.1	37	c.229		MT																																																																																			-	pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,tigrfam_Cyt_c_oxidase_su2		0.468	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	MT-CO2	protein_coding		G	YP_003024029	-		7814	+1	no_errors	ENST00000361739	ensembl	human	known	74_37	missense	SNP	NULL	A
TMPRSS13	84000	genome.wustl.edu	37	11	117774364	117774364	+	Missense_Mutation	SNP	T	T	A			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr11:117774364T>A	ENST00000445164.2	-	12	1756	c.1683A>T	c.(1681-1683)agA>agT	p.R561S	TMPRSS13_ENST00000528626.1_Intron|TMPRSS13_ENST00000524993.1_Intron|TMPRSS13_ENST00000430170.2_Intron			Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	561						blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GCTGCAGGGATCTTACCTCCA	0.582																																																	0								ENSG00000137747						79.0	84.0	83.0					11																	117774364		1982	4149	6131	TMPRSS13	SO:0001583	missense	0			-	HGNC	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000445164.2:c.1683A>T	11.37:g.117774364T>A	ENSP00000394114:p.Arg561Ser	Somatic	0	38	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	26	33.33	B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_Peptidase_S1A_TMPRSS13,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SRCR,pfscan_Peptidase_S1	p.R561S	ENST00000445164.2	37	c.1683		11	.	.	.	.	.	.	.	.	.	.	T	16.93	3.256996	0.59321	.	.	ENSG00000137747	ENST00000445164	D	0.88431	-2.38	5.05	-6.03	0.02185	.	.	.	.	.	T	0.68851	0.3046	.	.	.	0.39073	D	0.960767	B	0.02656	0.0	B	0.04013	0.001	T	0.56105	-0.8034	8	0.09590	T	0.72	.	0.3363	0.00326	0.3026:0.1432:0.2253:0.329	.	556	Q9BYE2	TMPSD_HUMAN	S	561	ENSP00000394114:R561S	ENSP00000394114:R561S	R	-	3	2	TMPRSS13	117279574	0.001000	0.12720	0.005000	0.12908	0.609000	0.37215	-1.063000	0.03465	-1.639000	0.01527	0.377000	0.23210	AGA	-	pirsf_Peptidase_S1A_TMPRSS13		0.582	TMPRSS13-004	KNOWN	basic|appris_candidate_longest	protein_coding	TMPRSS13	protein_coding	OTTHUMT00000392319.1	T	NM_032046	-		117774364	-1	no_errors	ENST00000445164	ensembl	human	known	74_37	missense	SNP	0.037	A
VIT	5212	genome.wustl.edu	37	2	37036041	37036041	+	Missense_Mutation	SNP	C	C	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr2:37036041C>T	ENST00000389975.3	+	14	2073	c.1771C>T	c.(1771-1773)Ccc>Tcc	p.P591S	VIT_ENST00000379242.3_Missense_Mutation_p.P606S|VIT_ENST00000401530.1_Missense_Mutation_p.P570S|VIT_ENST00000404084.1_Missense_Mutation_p.P543S|VIT_ENST00000379241.3_Missense_Mutation_p.P569S|VIT_ENST00000497382.1_Missense_Mutation_p.P260S	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	591	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GAAGTCCAAGCCCAACAAGAG	0.587																																																	0								ENSG00000205221						71.0	71.0	71.0					2																	37036041		2203	4300	6503	VIT	SO:0001583	missense	0			-	HGNC	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1771C>T	2.37:g.37036041C>T	ENSP00000374625:p.Pro591Ser	Somatic	0	22	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.P606S	ENST00000389975.3	37	c.1816	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831505	0.71258	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.51	4.64	0.57946	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.82449	0.5039	L	0.42581	1.335	0.80722	D	1	D;D;D;D	0.67145	0.991;0.989;0.991;0.996	D;P;D;P	0.65987	0.94;0.801;0.94;0.901	T	0.82892	-0.0232	10	0.49607	T	0.09	-15.3472	14.1826	0.65583	0.0:0.9285:0.0:0.0715	.	570;569;591;606	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	S	606;591;260;543;569;570	ENSP00000368544:P606S;ENSP00000374625:P591S;ENSP00000417874:P260S;ENSP00000384154:P543S;ENSP00000368543:P569S;ENSP00000385658:P570S	ENSP00000368543:P569S	P	+	1	0	VIT	36889545	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.159000	0.50731	1.329000	0.45376	0.650000	0.86243	CCC	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.587	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	protein_coding		C		-		37036041	+1	no_errors	ENST00000379242	ensembl	human	known	74_37	missense	SNP	1.000	T
TMEM132D	121256	genome.wustl.edu	37	12	129566374	129566374	+	Missense_Mutation	SNP	T	T	C			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr12:129566374T>C	ENST00000422113.2	-	7	2179	c.1853A>G	c.(1852-1854)gAg>gGg	p.E618G	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E156G	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	618					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GATCCTGGGCTCCTCCACCTG	0.562																																																	0								ENSG00000151952						55.0	53.0	53.0					12																	129566374		2203	4300	6503	TMEM132D	SO:0001583	missense	0			-	HGNC	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1853A>G	12.37:g.129566374T>C	ENSP00000408581:p.Glu618Gly	Somatic	0	85	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	68	26.88	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.E618G	ENST00000422113.2	37	c.1853	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	T	23.3	4.404895	0.83230	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.15139	2.45;2.45	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000001	T	0.32763	0.0840	M	0.84326	2.69	0.49051	D	0.999747	P;P	0.52316	0.952;0.941	P;P	0.49085	0.6;0.578	T	0.28170	-1.0052	9	.	.	.	-32.7189	14.0186	0.64539	0.0:0.0:0.0:1.0	.	618;156	Q14C87;Q14C87-2	T132D_HUMAN;.	G	156;618	ENSP00000374092:E156G;ENSP00000408581:E618G	.	E	-	2	0	TMEM132D	128132327	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.980000	0.63812	1.706000	0.51276	0.459000	0.35465	GAG	-	NULL		0.562	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	protein_coding	OTTHUMT00000399592.1	T	NM_133448	-		129566374	-1	no_errors	ENST00000422113	ensembl	human	known	74_37	missense	SNP	1.000	C
CSMD3	114788	genome.wustl.edu	37	8	113275914	113275914	+	Silent	SNP	G	G	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr8:113275914G>T	ENST00000297405.5	-	61	10060	c.9816C>A	c.(9814-9816)acC>acA	p.T3272T	CSMD3_ENST00000352409.3_Silent_p.T3202T|CSMD3_ENST00000343508.3_Silent_p.T3232T|CSMD3_ENST00000455883.2_Silent_p.T3103T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3272	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCCTACACAGGTCAAAACAG	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						99.0	85.0	90.0					8																	113275914		2203	4300	6503	CSMD3	SO:0001819	synonymous_variant	0			-	HGNC	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9816C>A	8.37:g.113275914G>T		Somatic	0	44	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	Q96PZ3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.T3272	ENST00000297405.5	37	c.9816	CCDS6315.1	8																																																																																			-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	G	NM_052900	-		113275914	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	silent	SNP	1.000	T
GOLGA3	2802	genome.wustl.edu	37	12	133351889	133351889	+	Silent	SNP	G	G	A			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr12:133351889G>A	ENST00000450791.2	-	21	4164	c.3981C>T	c.(3979-3981)aaC>aaT	p.N1327N	GOLGA3_ENST00000456883.2_Silent_p.N1327N|GOLGA3_ENST00000204726.3_Silent_p.N1327N			Q08378	GOGA3_HUMAN	golgin A3	1327	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CAGACTTGACGTTCTGTGGAA	0.423																																																	0								ENSG00000090615						78.0	73.0	74.0					12																	133351889		2203	4300	6503	GOLGA3	SO:0001819	synonymous_variant	0			-	HGNC	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3981C>T	12.37:g.133351889G>A		Somatic	0	41	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	NA	NA	NA	NA	NA	NA	superfamily_Prefoldin	p.N1327	ENST00000450791.2	37	c.3981	CCDS9281.1	12																																																																																			-	NULL		0.423	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	protein_coding	OTTHUMT00000397569.2	G	NM_005895	-		133351889	-1	no_errors	ENST00000204726	ensembl	human	known	74_37	silent	SNP	0.860	A
SPEG	10290	genome.wustl.edu	37	2	220330643	220330650	+	Intron	DEL	GTGCGCGC	GTGCGCGC	-	rs370532066|rs1976618|rs538792814	byFrequency	TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	GTGCGCGC	GTGCGCGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr2:220330643_220330650delGTGCGCGC	ENST00000312358.7	+	10	3013				SPEG_ENST00000485813.1_Intron|SPEG_ENST00000396688.1_Intron|SPEG_ENST00000396689.2_Intron|SPEG_ENST00000396698.1_Intron|SPEG_ENST00000396695.2_Intron|SPEG_ENST00000396686.1_Intron	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus						cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		gcgtgtgtgtgtgcgcgcgtgtgcgtgc	0.601																																																	0								ENSG00000072195																																			SPEG	SO:0001627	intron_variant	0				HGNC	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2882-1246GTGCGCGC>-	2.37:g.220330643_220330650delGTGCGCGC		Somatic	NA	NA	NA		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000312358.7	37	NULL	CCDS42824.1	2																																																																																			-	-		0.601	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	protein_coding	OTTHUMT00000130252.2	GTGCGCGC	NM_005876			220330650	+1	no_errors	ENST00000462545	ensembl	human	known	74_37	rna	DEL	0.057:0.016:0.015:0.006:0.004:0.001:0.002:0.003	-
TNXB	7148	genome.wustl.edu	37	6	32029299	32029299	+	Missense_Mutation	SNP	C	C	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr6:32029299C>T	ENST00000375244.3	-	21	7568	c.7367G>A	c.(7366-7368)cGt>cAt	p.R2456H	TNXB_ENST00000375247.2_Missense_Mutation_p.R2456H			P22105	TENX_HUMAN	tenascin XB	2516	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCCCAACACGCACCACCTG	0.692																																																	0								ENSG00000168477						60.0	71.0	67.0					6																	32029299		1238	2518	3756	TNXB	SO:0001583	missense	0			-	HGNC	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7367G>A	6.37:g.32029299C>T	ENSP00000364393:p.Arg2456His	Somatic	0	92	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	62	31.11	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R2456H	ENST00000375244.3	37	c.7367		6	.	.	.	.	.	.	.	.	.	.	C	7.215	0.596132	0.13875	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57752	0.38;0.38	4.28	2.51	0.30379	.	0.376474	0.22068	N	0.065062	T	0.25717	0.0626	M	0.68952	2.095	0.25125	N	0.990614	B	0.21381	0.055	B	0.23018	0.043	T	0.24440	-1.0160	10	0.42905	T	0.14	.	4.5506	0.12110	0.0:0.6178:0.1821:0.2001	.	2456	P22105-3	.	H	2456	ENSP00000364393:R2456H;ENSP00000364396:R2456H	ENSP00000364393:R2456H	R	-	2	0	TNXB	32137277	0.001000	0.12720	0.856000	0.33681	0.006000	0.05464	-0.341000	0.07811	0.451000	0.26802	-0.948000	0.02665	CGT	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.692	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	protein_coding	OTTHUMT00000268927.2	C	NM_019105	-		32029299	-1	no_errors	ENST00000375247	ensembl	human	known	74_37	missense	SNP	0.935	T
DOPEY1	23033	genome.wustl.edu	37	6	83839162	83839162	+	Missense_Mutation	SNP	G	G	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr6:83839162G>T	ENST00000349129.2	+	16	2536	c.2276G>T	c.(2275-2277)aGt>aTt	p.S759I	DOPEY1_ENST00000369739.3_Missense_Mutation_p.S750I|DOPEY1_ENST00000237163.5_Missense_Mutation_p.S740I	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	759					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GAGTGCTCAAGTTTCCCAGTT	0.388																																																	0								ENSG00000083097						67.0	66.0	67.0					6																	83839162		2203	4300	6503	DOPEY1	SO:0001583	missense	0			-	HGNC	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2276G>T	6.37:g.83839162G>T	ENSP00000195654:p.Ser759Ile	Somatic	0	32	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dopey_N,superfamily_ARM-type_fold	p.S759I	ENST00000349129.2	37	c.2276	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713523	0.89112	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.26660	1.72;1.73	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	M	0.64997	1.995	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.80764	0.994;0.993;0.993	T	0.35871	-0.9771	10	0.72032	D	0.01	.	19.7974	0.96491	0.0:0.0:1.0:0.0	.	650;750;759	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	I	759;740;740	ENSP00000195654:S759I;ENSP00000237163:S740I	ENSP00000237163:S740I	S	+	2	0	DOPEY1	83895881	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.230000	0.95299	2.673000	0.90976	0.650000	0.86243	AGT	-	superfamily_ARM-type_fold		0.388	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	protein_coding	OTTHUMT00000043785.2	G	NM_015018	-		83839162	+1	no_errors	ENST00000349129	ensembl	human	known	74_37	missense	SNP	1.000	T
FERMT1	55612	genome.wustl.edu	37	20	6096537	6096537	+	Silent	SNP	C	C	T	rs141850118	byFrequency	TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr20:6096537C>T	ENST00000217289.4	-	3	1094	c.306G>A	c.(304-306)ccG>ccA	p.P102P	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	102	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TCTTCAAATTCGGCAGACGAA	0.498													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20083	0.0		0.001	False		,,,				2504	0.0																0								ENSG00000101311	C		0,4406		0,0,2203	86.0	87.0	86.0		306	-11.0	0.0	20	dbSNP_134	86	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	FERMT1	NM_017671.4		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384		102/678	6096537	5,13001	2203	4300	6503	FERMT1	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.306G>A	20.37:g.6096537C>T		Somatic	0	46	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	26	42.22	D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P102	ENST00000217289.4	37	c.306	CCDS13098.1	20																																																																																			-	smart_Band_41_domain		0.498	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERMT1	protein_coding	OTTHUMT00000077908.2	C	NM_017671	rs141850118		6096537	-1	no_errors	ENST00000217289	ensembl	human	known	74_37	silent	SNP	0.242	T
SHF	90525	genome.wustl.edu	37	15	45465795	45465795	+	Missense_Mutation	SNP	G	G	A			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr15:45465795G>A	ENST00000290894.8	-	5	1266	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	SHF_ENST00000561091.1_5'Flank|SHF_ENST00000458022.2_Intron|SHF_ENST00000560540.1_Intron|SHF_ENST00000560734.1_Intron|SHF_ENST00000318390.6_Intron|SHF_ENST00000560471.1_Missense_Mutation_p.P323S|RP11-519G16.2_ENST00000560034.1_RNA	NM_138356.2	NP_612365			Src homology 2 domain containing F											endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		TCCAGGCTGGGCTCAGGGAGG	0.677																																																	0								ENSG00000138606						17.0	16.0	16.0					15																	45465795		2117	4097	6214	SHF	SO:0001583	missense	0			-	HGNC	BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"""SH2 domain containing"""	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000290894.8:c.772C>T	15.37:g.45465795G>A	ENSP00000290894:p.Pro258Ser	Somatic	0	52	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	45	29.69		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.P258S	ENST00000290894.8	37	c.772	CCDS10120.2	15	.	.	.	.	.	.	.	.	.	.	G	13.89	2.370655	0.42003	.	.	ENSG00000138606	ENST00000290894;ENST00000361989	T	0.29142	1.58	4.98	3.08	0.35506	.	0.193958	0.22657	U	0.057257	T	0.19565	0.0470	N	0.22421	0.69	0.80722	D	1	B;B	0.14438	0.0;0.01	B;B	0.12837	0.001;0.008	T	0.04281	-1.0963	10	0.31617	T	0.26	-2.4693	10.0052	0.41953	0.1705:0.0:0.8295:0.0	.	121;258	Q8N9I8;Q7M4L6	.;SHF_HUMAN	S	258	ENSP00000290894:P258S	ENSP00000290894:P258S	P	-	1	0	SHF	43253087	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	3.694000	0.54742	0.612000	0.30071	0.491000	0.48974	CCC	-	NULL		0.677	SHF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHF	protein_coding	OTTHUMT00000254141.2	G	NM_138356	-		45465795	-1	no_errors	ENST00000290894	ensembl	human	known	74_37	missense	SNP	1.000	A
CDNF	441549	genome.wustl.edu	37	10	14861969	14861969	+	3'UTR	SNP	G	G	A			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr10:14861969G>A	ENST00000378442.1	-	0	771				CDNF_ENST00000378441.2_5'UTR			Q49AH0	CDNF_HUMAN	cerebral dopamine neurotrophic factor							extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(1)	5						AAATGTGCTGGCATTGGAGAT	0.443																																																	0								ENSG00000185267						200.0	203.0	202.0					10																	14861969		2203	4300	6503	CDNF	SO:0001624	3_prime_UTR_variant	0			-	HGNC	BC037872	CCDS31148.1	10p13	2009-06-04	2009-06-04	2009-06-04	ENSG00000185267	ENSG00000185267			24913	protein-coding gene	gene with protein product	"""conserved dopamine neurotrophic factor"""	611233	"""arginine-rich, mutated in early stage tumors-like 1"""	ARMETL1		17611540	Standard	NM_001029954		Approved		uc001inb.1	Q49AH0	OTTHUMG00000017713	ENST00000378442.1:c.*10C>T	10.37:g.14861969G>A		Somatic	0	30	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A2RUU0|B4DVW3	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000378442.1	37	NULL		10																																																																																			-	-		0.443	CDNF-001	KNOWN	basic	protein_coding	CDNF	protein_coding	OTTHUMT00000046919.1	G	NM_001029954	-		14861969	-1	no_errors	ENST00000378441	ensembl	human	known	74_37	rna	SNP	0.000	A
ZMIZ1	57178	genome.wustl.edu	37	10	81056630	81056631	+	Intron	INS	-	-	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr10:81056630_81056631insT	ENST00000334512.5	+	13	1985				ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1						artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TCGGATGATGGTTTTTTTTTCT	0.371																																																	0								ENSG00000108175																																			ZMIZ1	SO:0001627	intron_variant	0				HGNC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1413+220->T	10.37:g.81056639_81056639dupT		Somatic	0	12	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	Q5JSH9|Q7Z7E6	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000334512.5	37	NULL	CCDS7357.1	10																																																																																			-	-		0.371	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ1	protein_coding	OTTHUMT00000048944.2	-	NM_020338			81056631	+1	no_errors	ENST00000478357	ensembl	human	known	74_37	rna	INS	0.000:0.001	T
PTEN	5728	genome.wustl.edu	37	10	89692794	89692794	+	Missense_Mutation	SNP	A	A	C	rs121909238		TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr10:89692794A>C	ENST00000371953.3	+	5	1635	c.278A>C	c.(277-279)cAt>cCt	p.H93P		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	93	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		H -> R (in MCEPHAS). {ECO:0000269|PubMed:15805158}.|H -> Y (in CWS1).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.H93R(3)|p.Y27fs*1(2)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTGAAGACCATAACCCACCA	0.338		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	55	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Missense(3)|Deletion - In frame(2)	prostate(16)|central_nervous_system(12)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|endometrium(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	GRCh37	CM051214	PTEN	M	rs121909238	ENSG00000171862						111.0	102.0	105.0					10																	89692794		2203	4300	6503	PTEN	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	-	HGNC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.278A>C	10.37:g.89692794A>C	ENSP00000361021:p.His93Pro	Somatic	0	56	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	40	33.33	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.H93P	ENST00000371953.3	37	c.278	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	A	22.9	4.351722	0.82132	.	.	ENSG00000171862	ENST00000371953	D	0.98889	-5.21	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99480	0.9815	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98045	1.0384	9	.	.	.	-6.7727	14.8406	0.70220	1.0:0.0:0.0:0.0	.	93	P60484	PTEN_HUMAN	P	93	ENSP00000361021:H93P	.	H	+	2	0	PTEN	89682774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.914000	0.92735	1.880000	0.54463	0.533000	0.62120	CAT	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ		0.338	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	protein_coding	OTTHUMT00000049241.1	A	NM_000314	-		89692794	+1	no_errors	ENST00000371953	ensembl	human	known	74_37	missense	SNP	1.000	C
RFX3	5991	genome.wustl.edu	37	9	3257180	3257180	+	Missense_Mutation	SNP	C	C	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr9:3257180C>T	ENST00000382004.3	-	15	1936	c.1625G>A	c.(1624-1626)tGc>tAc	p.C542Y	RFX3_ENST00000302303.1_Missense_Mutation_p.C542Y|RFX3_ENST00000358730.2_Missense_Mutation_p.C542Y	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	542					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ATCACACTGGCACACCCAGGA	0.478																																																	0								ENSG00000080298						117.0	100.0	106.0					9																	3257180		2203	4300	6503	RFX3	SO:0001583	missense	0			-	HGNC	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1625G>A	9.37:g.3257180C>T	ENSP00000371434:p.Cys542Tyr	Somatic	0	13	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.C542Y	ENST00000382004.3	37	c.1625	CCDS6449.1	9	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591731	0.86953	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000449234;ENST00000381986;ENST00000458034	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.62	5.62	0.85841	.	0.049265	0.85682	D	0.000000	T	0.72661	0.3488	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.77557	0.99;0.921	T	0.73487	-0.3967	10	0.46703	T	0.11	-12.1721	19.6768	0.95939	0.0:1.0:0.0:0.0	.	542;542	P48380-2;P48380	.;RFX3_HUMAN	Y	542;542;542;7;21;115	ENSP00000371434:C542Y;ENSP00000351574:C542Y;ENSP00000303847:C542Y;ENSP00000415594:C7Y;ENSP00000400026:C115Y	ENSP00000303847:C542Y	C	-	2	0	RFX3	3247180	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.634000	0.89283	0.655000	0.94253	TGC	-	NULL		0.478	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	protein_coding	OTTHUMT00000051545.1	C	NM_002919	-		3257180	-1	no_errors	ENST00000382004	ensembl	human	known	74_37	missense	SNP	1.000	T
OTOL1	131149	genome.wustl.edu	37	3	161221320	161221320	+	Missense_Mutation	SNP	C	C	T	rs200878802	byFrequency	TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr3:161221320C>T	ENST00000327928.4	+	4	1024	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	342	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TAGAGTGCCCCGGTCGGCTTT	0.527																																																	0								ENSG00000182447						38.0	37.0	37.0					3																	161221320		1870	4100	5970	OTOL1	SO:0001583	missense	0			-	HGNC		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.1024C>T	3.37:g.161221320C>T	ENSP00000330808:p.Arg342Trp	Somatic	0	50	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	56	26.32		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.R342W	ENST00000327928.4	37	c.1024	CCDS46948.1	3	.	.	.	.	.	.	.	.	.	.	C	7.249	0.602848	0.13939	.	.	ENSG00000182447	ENST00000327928	D	0.86694	-2.16	5.23	3.22	0.36961	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.298148	0.35407	N	0.003223	D	0.92519	0.7624	M	0.88906	2.99	0.09310	N	1	D	0.89917	1.0	P	0.60886	0.88	D	0.85771	0.1355	10	0.66056	D	0.02	.	10.9133	0.47120	0.5687:0.4313:0.0:0.0	.	342	A6NHN0	OTOL1_HUMAN	W	342	ENSP00000330808:R342W	ENSP00000330808:R342W	R	+	1	2	OTOL1	162704014	0.031000	0.19500	0.001000	0.08648	0.001000	0.01503	1.445000	0.35079	1.172000	0.42781	-0.321000	0.08615	CGG	-	superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q		0.527	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOL1	protein_coding	OTTHUMT00000353184.1	C	NM_001080440	-		161221320	+1	no_errors	ENST00000327928	ensembl	human	known	74_37	missense	SNP	0.013	T
C3	718	genome.wustl.edu	37	19	6712609	6712609	+	Silent	SNP	G	G	A			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr19:6712609G>A	ENST00000245907.6	-	10	1121	c.1029C>T	c.(1027-1029)cgC>cgT	p.R343R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	343					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GGATCCCGCTGCGCTCTGCCT	0.587																																																	0								ENSG00000125730						211.0	184.0	193.0					19																	6712609		2203	4300	6503	C3	SO:0001819	synonymous_variant	0			-	HGNC	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1029C>T	19.37:g.6712609G>A		Somatic	0	32	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A7E236	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.R343	ENST00000245907.6	37	c.1029	CCDS32883.1	19																																																																																			-	NULL		0.587	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	protein_coding	OTTHUMT00000317636.2	G	NM_000064	-		6712609	-1	no_errors	ENST00000245907	ensembl	human	known	74_37	silent	SNP	0.001	A
MUC16	94025	genome.wustl.edu	37	19	9062573	9062573	+	Silent	SNP	G	G	A			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr19:9062573G>A	ENST00000397910.4	-	3	25076	c.24873C>T	c.(24871-24873)tcC>tcT	p.S8291S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8293	Ser-rich.|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						GAAGAGAAGCGGAAGGGAAAT	0.512																																																	0								ENSG00000181143						77.0	77.0	77.0					19																	9062573		1987	4167	6154	MUC16	SO:0001819	synonymous_variant	0			-	HGNC	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.24873C>T	19.37:g.9062573G>A		Somatic	0	24	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	32	34.69	Q6ZQW5|Q96RK2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S8291	ENST00000397910.4	37	c.24873	CCDS54212.1	19																																																																																			-	NULL		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9062573	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	SNP	0.000	A
ZNF850	342892	genome.wustl.edu	37	19	37264096	37264096	+	5'Flank	SNP	C	C	A			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr19:37264096C>A	ENST00000591344.1	-	0	0				ZNF850_ENST00000589390.1_5'Flank|CTD-2162K18.4_ENST00000590750.1_Missense_Mutation_p.F6L|CTD-2162K18.3_ENST00000588717.1_lincRNA	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CCAAAGGATTCTTGGCTCCAA	0.557																																																	0								ENSG00000267260																																			CTD-2162K18.4	SO:0001631	upstream_gene_variant	0			-	Clone_based_vega_gene	BC052603	CCDS59379.1, CCDS74350.1	19q13.12	2013-01-08	2010-08-02	2010-08-02		ENSG00000267041		"""Zinc fingers, C2H2-type"", ""-"""	27994	protein-coding gene	gene with protein product			"""zinc finger protein 850 pseudogene"", ""zinc finger protein 850 (pseudogene)"""	ZNF850P		12477932	Standard	NM_001193552		Approved		uc010efc.3	A8MQ14			19.37:g.37264096C>A	Exception_encountered	Somatic	0	30	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	44	26.67		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.F6L	ENST00000591344.1	37	c.18	CCDS59379.1	19																																																																																			-	NULL		0.557	ZNF850-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267260	protein_coding	OTTHUMT00000453557.1	C	XM_001720258	-		37264096	+1	no_errors	ENST00000590750	ensembl	human	putative	74_37	missense	SNP	0.007	A
ESPNP	284729	genome.wustl.edu	37	1	17034456	17034463	+	RNA	DEL	GCGCGCGT	GCGCGCGT	-	rs140689885|rs58726851	byFrequency	TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	GCGCGCGT	GCGCGCGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr1:17034456_17034463delGCGCGCGT	ENST00000492551.1	-	0	304_311					NR_026567.1				espin pseudogene																		CGTCGTGGGCGCGCGCGTGCGGGTCCGC	0.726														1012	0.202077	0.0446	0.2277	5008	,	,		27320	0.3135		0.2028	False		,,,				2504	0.2812																0								ENSG00000268869																																			ESPNP			0				HGNC	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034456_17034463delGCGCGCGT		Somatic	NA	NA	NA		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000492551.1	37	NULL		1																																																																																			-	-		0.726	ESPNP-002	KNOWN	basic	processed_transcript	ESPNP	pseudogene	OTTHUMT00000326311.1	GCGCGCGT				17034463	-1	no_errors	ENST00000492551	ensembl	human	known	74_37	rna	DEL	1.000:1.000:0.990:0.984:0.981:0.981:0.989:0.998	-
RP11-184E9.1	0	genome.wustl.edu	37	5	25190635	25190635	+	lincRNA	SNP	G	G	A			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr5:25190635G>A	ENST00000502100.2	+	0	0				RP11-549K20.1_ENST00000507600.1_lincRNA																							GTGGTCACCCGGGAACCGGAT	0.647																																																	0								ENSG00000251273																																			RP11-549K20.1			0			-	Clone_based_vega_gene																													5.37:g.25190635G>A		Somatic	0	42	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	49	40.24		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000502100.2	37	NULL		5																																																																																			-	-		0.647	RP11-184E9.1-001	KNOWN	basic	lincRNA	ENSG00000251273	lincRNA	OTTHUMT00000366522.1	G		-		25190635	-1	no_errors	ENST00000507600	ensembl	human	known	74_37	rna	SNP	0.001	A
RAD54B	25788	genome.wustl.edu	37	8	95390498	95390498	+	Missense_Mutation	SNP	G	G	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr8:95390498G>T	ENST00000336148.5	-	14	2549	c.2425C>A	c.(2425-2427)Ctt>Att	p.L809I		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	809	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AAATTTTTAAGTTCTTCTACT	0.373								Direct reversal of damage;Homologous recombination																																									0								ENSG00000197275						72.0	66.0	68.0					8																	95390498		2203	4300	6503	RAD54B	SO:0001583	missense	0			-	HGNC	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2425C>A	8.37:g.95390498G>T	ENSP00000336606:p.Leu809Ile	Somatic	0	34	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	F6WBS8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L809I	ENST00000336148.5	37	c.2425	CCDS6262.1	8	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585937	0.86748	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	T	0.78481	-1.18	5.82	4.95	0.65309	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85535	0.5719	M	0.64676	1.99	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.86737	0.1952	10	0.62326	D	0.03	-8.4681	14.7521	0.69533	0.0689:0.0:0.9311:0.0	.	809	Q9Y620	RA54B_HUMAN	I	809;481	ENSP00000336606:L809I	ENSP00000336606:L809I	L	-	1	0	RAD54B	95459674	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	9.232000	0.95325	1.484000	0.48361	0.655000	0.94253	CTT	-	superfamily_P-loop_NTPase,pfscan_Helicase_C		0.373	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	protein_coding	OTTHUMT00000257806.3	G	NM_012415	-		95390498	-1	no_errors	ENST00000336148	ensembl	human	known	74_37	missense	SNP	1.000	T
BSN	8927	genome.wustl.edu	37	3	49698840	49698840	+	Missense_Mutation	SNP	G	G	A	rs368455009		TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr3:49698840G>A	ENST00000296452.4	+	6	9676	c.9562G>A	c.(9562-9564)Ggc>Agc	p.G3188S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3188					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGTGAGCAGCGGCTATGAGCA	0.627																																																	0								ENSG00000164061	G	SER/GLY	0,4406		0,0,2203	67.0	62.0	63.0		9562	1.2	1.0	3		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	BSN	NM_003458.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	3188/3927	49698840	1,13005	2203	4300	6503	BSN	SO:0001583	missense	0			-	HGNC	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.9562G>A	3.37:g.49698840G>A	ENSP00000296452:p.Gly3188Ser	Somatic	0	29	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	O43161|Q7LGH3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.G3188S	ENST00000296452.4	37	c.9562	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	2.376	-0.343305	0.05243	0.0	1.16E-4	ENSG00000164061	ENST00000296452	T	0.15487	2.42	5.0	1.17	0.20885	.	0.380726	0.29059	N	0.013279	T	0.03608	0.0103	N	0.00707	-1.245	0.20638	N	0.99988	B	0.02656	0.0	B	0.04013	0.001	T	0.44772	-0.9306	10	0.02654	T	1	-3.0877	9.287	0.37764	0.706:0.0:0.294:0.0	.	3188	Q9UPA5	BSN_HUMAN	S	3188	ENSP00000296452:G3188S	ENSP00000296452:G3188S	G	+	1	0	BSN	49673844	0.994000	0.37717	0.986000	0.45419	0.126000	0.20510	0.532000	0.23067	-0.032000	0.13758	-2.295000	0.00263	GGC	-	NULL		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	protein_coding	OTTHUMT00000258164.1	G	NM_003458	-		49698840	+1	no_errors	ENST00000296452	ensembl	human	known	74_37	missense	SNP	1.000	A
CADM3	57863	genome.wustl.edu	37	1	159166613	159166613	+	Intron	DEL	T	T	-	rs533935187		TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr1:159166613delT	ENST00000368125.4	+	7	939				CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Intron	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CTCCCAGTTATTTTTTTTTTT	0.527											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000225670																																			CTA-134P22.2	SO:0001627	intron_variant	0				Clone_based_vega_gene	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.783-68T>-	1.37:g.159166613delT		Somatic	0	15	0.00	1799	0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	Q8IZQ9|Q9NVJ5|Q9UJP1	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000368125.4	37	NULL	CCDS44251.1	1																																																																																			-	-		0.527	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LOC100131825	protein_coding	OTTHUMT00000090330.1	T	NM_021189			159166613	-1	no_errors	ENST00000415675	ensembl	human	known	74_37	rna	DEL	0.000	-
HHIPL1	84439	genome.wustl.edu	37	14	100123367	100123369	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	AAA	AAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr14:100123367_100123369delAAA	ENST00000330710.5	+	3	1031_1033	c.933_935delAAA	c.(931-936)tcaaac>tcc	p.N312del	HHIPL1_ENST00000357223.2_In_Frame_Del_p.N312del	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	312					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				AACCAGCCTCAAACCACAACGGG	0.522																																																	0								ENSG00000182218																																			HHIPL1	SO:0001651	inframe_deletion	0				HGNC	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.933_935delAAA	14.37:g.100123367_100123369delAAA	ENSP00000330601:p.Asn312del	Somatic	0	80	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	40	32.20	A2RUF8|B2RN09|Q6UXX2	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_SRCR,pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Srcr_rcpt-rel,superfamily_Quinoprot_gluc/sorb_DH,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.N312in_frame_del	ENST00000330710.5	37	c.933_935	CCDS45162.1	14																																																																																			-	superfamily_Quinoprot_gluc/sorb_DH		0.522	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL1	protein_coding	OTTHUMT00000413811.1	AAA	XM_041566			100123369	+1	no_errors	ENST00000330710	ensembl	human	known	74_37	in_frame_del	DEL	0.130:0.998:1.000	-
SYNE2	23224	genome.wustl.edu	37	14	64467428	64467428	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr14:64467428delT	ENST00000344113.4	+	28	3841	c.3629delT	c.(3628-3630)cttfs	p.L1210fs	SYNE2_ENST00000358025.3_Frame_Shift_Del_p.L1210fs|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.L1210fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1210					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGATGACTCTTAATACCAGG	0.303																																																	0								ENSG00000054654						60.0	60.0	60.0					14																	64467428		1818	4065	5883	SYNE2	SO:0001589	frameshift_variant	0				HGNC	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3629delT	14.37:g.64467428delT	ENSP00000341781:p.Leu1210fs	Somatic	0	37	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.N1211fs	ENST00000344113.4	37	c.3629	CCDS41963.1	14																																																																																			-	NULL		0.303	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	T	NM_182914			64467428	+1	no_errors	ENST00000358025	ensembl	human	known	74_37	frame_shift_del	DEL	0.777	-
RCOR1	23186	genome.wustl.edu	37	14	103059661	103059661	+	Splice_Site	SNP	C	C	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr14:103059661C>T	ENST00000570597.1	+	2	351	c.351C>T	c.(349-351)ccC>ccT	p.P117P	RCOR1_ENST00000262241.6_Splice_Site_p.P120P			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	117	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						ACTTCGACCCCGGTGAGTAgc	0.751																																																	0								ENSG00000089902						6.0	7.0	6.0					14																	103059661		2074	4086	6160	RCOR1	SO:0001630	splice_region_variant	0			-	HGNC	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.352+1C>T	14.37:g.103059661C>T		Somatic	0	31	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	Q15044|Q6P2I9|Q86VG5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom,prints_Antifreeze_1	p.P120	ENST00000570597.1	37	c.360		14																																																																																			-	pfam_ELM2_dom,pfscan_ELM2_dom		0.751	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	RCOR1	protein_coding		C	NM_015156	-	Silent	103059661	+1	no_errors	ENST00000262241	ensembl	human	known	74_37	silent	SNP	0.983	T
NRAP	4892	genome.wustl.edu	37	10	115423585	115423585	+	Silent	SNP	G	G	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr10:115423585G>T	ENST00000359988.3	-	1	301	c.57C>A	c.(55-57)atC>atA	p.I19I	NRAP_ENST00000369360.3_Silent_p.I19I|NRAP_ENST00000360478.3_Silent_p.I19I|NRAP_ENST00000369358.4_Silent_p.I19I	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTATACAGCTGATCTTCTCGG	0.433																																																	0								ENSG00000197893						114.0	105.0	108.0					10																	115423585		2203	4300	6503	NRAP	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.57C>A	10.37:g.115423585G>T		Somatic	0	27	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.I19	ENST00000359988.3	37	c.57	CCDS7579.1	10																																																																																			-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.433	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	protein_coding	OTTHUMT00000050425.2	G	NM_006175	-		115423585	-1	no_errors	ENST00000369358	ensembl	human	known	74_37	silent	SNP	1.000	T
LY75	4065	genome.wustl.edu	37	2	160717368	160717368	+	Silent	SNP	C	C	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr2:160717368C>T	ENST00000263636.4	-	15	2259	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	LY75-CD302_ENST00000504764.1_Silent_p.Q744Q|LY75-CD302_ENST00000505052.1_Silent_p.Q744Q|LY75_ENST00000554112.1_Silent_p.Q744Q|LY75_ENST00000553424.1_Silent_p.Q744Q	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	744	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CATAATCCTGCTGAAACTCAT	0.348																																																	0								ENSG00000054219						112.0	107.0	109.0					2																	160717368		2203	4300	6503	LY75	SO:0001819	synonymous_variant	0			-	HGNC	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2232G>A	2.37:g.160717368C>T		Somatic	0	32	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.Q744	ENST00000263636.4	37	c.2232	CCDS2211.1	2																																																																																			-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.348	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	protein_coding	OTTHUMT00000255035.1	C		-		160717368	-1	no_errors	ENST00000554112	ensembl	human	known	74_37	silent	SNP	1.000	T
ABCD3	5825	genome.wustl.edu	37	1	94982776	94982777	+	3'UTR	INS	-	-	T	rs80246136		TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr1:94982776_94982777insT	ENST00000370214.4	+	0	2095_2096				ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_3'UTR|ABCD3_ENST00000536817.1_3'UTR|ABCD3_ENST00000454898.2_3'UTR	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3						ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GTTGAGCTTAGTTTTTTTTAAA	0.262																																																	0								ENSG00000117528																																			ABCD3	SO:0001624	3_prime_UTR_variant	0				HGNC	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.*92->T	1.37:g.94982784_94982784dupT		Somatic	0	29	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000370214.4	37	NULL	CCDS749.1	1																																																																																			-	-		0.262	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	protein_coding	OTTHUMT00000029597.1	-	NM_002858			94982777	+1	no_errors	ENST00000464165	ensembl	human	known	74_37	rna	INS	0.998:1.000	T
FOXP1	27086	genome.wustl.edu	37	3	71096156	71096156	+	Missense_Mutation	SNP	G	G	A			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr3:71096156G>A	ENST00000318789.4	-	10	1126	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	FOXP1_ENST00000491238.1_Missense_Mutation_p.R203C|FOXP1_ENST00000498215.1_Missense_Mutation_p.R201C|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000475937.1_Missense_Mutation_p.R201C|FOXP1_ENST00000493089.1_Missense_Mutation_p.R201C|FOXP1_ENST00000484350.1_Missense_Mutation_p.R125C|FOXP1_ENST00000468577.1_Missense_Mutation_p.R201C	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	201	Gln-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGGCCTTGGCGCTGCAAAGAC	0.522			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0								ENSG00000114861						143.0	143.0	143.0					3																	71096156		2203	4300	6503	FOXP1	SO:0001583	missense	0			-	HGNC	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.601C>T	3.37:g.71096156G>A	ENSP00000318902:p.Arg201Cys	Somatic	0	43	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.R201C	ENST00000318789.4	37	c.601	CCDS2914.1	3	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852111	0.91355	.	.	ENSG00000114861	ENST00000318789;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000485326;ENST00000497553	T;T;T;T;T;T;T;T;T;T	0.44881	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;0.91	6.03	6.03	0.97812	.	0.236203	0.49916	D	0.000132	T	0.66973	0.2844	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.988;0.973;0.973	T	0.66685	-0.5861	10	0.72032	D	0.01	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	200;201;125;201	A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	C	201;101;201;201;97;203;201;201;125;201;101;101	ENSP00000318902:R201C;ENSP00000419393:R201C;ENSP00000418225:R97C;ENSP00000420736:R203C;ENSP00000418524:R201C;ENSP00000418102:R201C;ENSP00000417857:R125C;ENSP00000418883:R201C;ENSP00000417941:R101C;ENSP00000418784:R101C	ENSP00000318902:R201C	R	-	1	0	FOXP1	71178846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.340000	0.65958	2.854000	0.98071	0.655000	0.94253	CGC	-	NULL		0.522	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	protein_coding	OTTHUMT00000352250.1	G	NM_032682	-		71096156	-1	no_errors	ENST00000318789	ensembl	human	known	74_37	missense	SNP	1.000	A
DYNC1H1	1778	genome.wustl.edu	37	14	102483133	102483133	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr14:102483133C>T	ENST00000360184.4	+	38	7809	c.7645C>T	c.(7645-7647)Cag>Tag	p.Q2549*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2549					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTCTCCGTGGCAGGCCAAGGT	0.582																																																	0								ENSG00000197102						36.0	32.0	33.0					14																	102483133		2203	4298	6501	DYNC1H1	SO:0001587	stop_gained	0			-	HGNC	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7645C>T	14.37:g.102483133C>T	ENSP00000348965:p.Gln2549*	Somatic	0	28	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.Q2549*	ENST00000360184.4	37	c.7645	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	C	50	16.481136	0.99864	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	19.8311	0.96636	0.0:1.0:0.0:0.0	.	.	.	.	X	2549	.	ENSP00000348965:Q2549X	Q	+	1	0	DYNC1H1	101552886	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.094000	0.76944	2.768000	0.95171	0.561000	0.74099	CAG	-	superfamily_P-loop_NTPase		0.582	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	protein_coding	OTTHUMT00000414574.1	C	NM_001376	-		102483133	+1	no_errors	ENST00000360184	ensembl	human	known	74_37	nonsense	SNP	1.000	T
EIF4A2	1974	genome.wustl.edu	37	3	186506919	186506919	+	Missense_Mutation	SNP	G	G	A			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr3:186506919G>A	ENST00000323963.5	+	11	1149	c.1085G>A	c.(1084-1086)gGc>gAc	p.G362D	SNORA63_ENST00000363548.1_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.G267D|EIF4A2_ENST00000440191.2_Missense_Mutation_p.G363D|SNORA81_ENST00000408493.2_RNA|SNORA4_ENST00000584302.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	362	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		CACAGAATTGGCAGAGGGGGT	0.393			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0								ENSG00000156976						123.0	131.0	128.0					3																	186506919		2203	4300	6503	EIF4A2	SO:0001583	missense	0			-	HGNC	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.1085G>A	3.37:g.186506919G>A	ENSP00000326381:p.Gly362Asp	Somatic	0	29	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G363D	ENST00000323963.5	37	c.1088	CCDS3282.1	3	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618811	0.66787	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.19669	2.13;2.13;2.13	5.87	5.87	0.94306	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.67618	0.2912	H	0.99156	4.45	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.998;0.991;0.995	T	0.81289	-0.1000	10	0.87932	D	0	-10.0703	18.0718	0.89410	0.0:0.0:1.0:0.0	.	267;363;362	Q9NZE6;Q14240-2;Q14240	.;.;IF4A2_HUMAN	D	362;363;267	ENSP00000326381:G362D;ENSP00000398370:G363D;ENSP00000348925:G267D	ENSP00000326381:G362D	G	+	2	0	EIF4A2	187989613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.276000	0.95745	2.941000	0.99782	0.655000	0.94253	GGC	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.393	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	protein_coding	OTTHUMT00000344609.1	G	NM_001967	-		186506919	+1	no_errors	ENST00000440191	ensembl	human	known	74_37	missense	SNP	1.000	A
DDC	1644	genome.wustl.edu	37	7	50531032	50531032	+	Missense_Mutation	SNP	C	C	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr7:50531032C>T	ENST00000444124.2	-	14	1540	c.1340G>A	c.(1339-1341)cGc>cAc	p.R447H	DDC_ENST00000431062.1_Missense_Mutation_p.R354H|DDC_ENST00000357936.5_Missense_Mutation_p.R447H|DDC_ENST00000426377.1_Missense_Mutation_p.R369H	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	447					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.R447H(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	GATGGCAAAGCGCAGGACAAA	0.532																																																	1	Substitution - Missense(1)	endometrium(1)	GRCh37	CM077527	DDC	M		ENSG00000132437						145.0	128.0	134.0					7																	50531032		2203	4300	6503	DDC	SO:0001583	missense	0			-	HGNC		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1340G>A	7.37:g.50531032C>T	ENSP00000403644:p.Arg447His	Somatic	0	38	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	24	37.50	C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC	p.R447H	ENST00000444124.2	37	c.1340	CCDS5511.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.28|17.28	3.348837|3.348837	0.61183|0.61183	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000430300|ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124	.|T;T;T;T	.|0.68479	.|-0.33;-0.33;-0.33;-0.33	5.44|5.44	4.57|4.57	0.56435|0.56435	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86990|0.86990	0.6066|0.6066	H|H	0.96301|0.96301	3.8|3.8	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.90813|0.90813	0.4703|0.4703	5|10	.|0.87932	.|D	.|0	-18.0598|-18.0598	14.1535|14.1535	0.65403|0.65403	0.0:0.9277:0.0:0.0723|0.0:0.9277:0.0:0.0723	.|.	.|447;447	.|Q53Y41;P20711	.|.;DDC_HUMAN	T|H	328|447;354;369;447	.|ENSP00000350616:R447H;ENSP00000399184:R354H;ENSP00000395069:R369H;ENSP00000403644:R447H	.|ENSP00000350616:R447H	A|R	-|-	1|2	0|0	DDC|DDC	50498526|50498526	1.000000|1.000000	0.71417|0.71417	0.865000|0.865000	0.33974|0.33974	0.167000|0.167000	0.22549|0.22549	7.368000|7.368000	0.79567|0.79567	1.293000|1.293000	0.44690|0.44690	-0.136000|-0.136000	0.14681|0.14681	GCT|CGC	-	superfamily_PyrdxlP-dep_Trfase		0.532	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DDC	protein_coding	OTTHUMT00000342593.1	C		-		50531032	-1	no_errors	ENST00000357936	ensembl	human	known	74_37	missense	SNP	0.998	T
CKAP2	26586	genome.wustl.edu	37	13	53036665	53036665	+	Missense_Mutation	SNP	A	A	G			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr13:53036665A>G	ENST00000378037.5	+	5	1361	c.1271A>G	c.(1270-1272)aAc>aGc	p.N424S	CKAP2_ENST00000258607.5_Missense_Mutation_p.N423S|CKAP2_ENST00000378034.3_Missense_Mutation_p.N423S|CKAP2_ENST00000490903.1_Missense_Mutation_p.N375S	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		GAAAAAGTAAACAACACATTT	0.338																																																	0								ENSG00000136108						60.0	59.0	59.0					13																	53036665		2203	4300	6503	CKAP2	SO:0001583	missense	0			-	HGNC	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1271A>G	13.37:g.53036665A>G	ENSP00000367276:p.Asn424Ser	Somatic	0	26	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.N424S	ENST00000378037.5	37	c.1271	CCDS41893.1	13	.	.	.	.	.	.	.	.	.	.	.	18.70	3.680358	0.68042	.	.	ENSG00000136108	ENST00000398044;ENST00000258607;ENST00000378034;ENST00000378037;ENST00000490903	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.76	5.76	0.90799	.	0.187251	0.48286	D	0.000200	T	0.51466	0.1676	M	0.76574	2.34	0.35636	D	0.810612	D;D;D;D	0.89917	0.998;0.998;1.0;0.999	D;D;D;D	0.83275	0.915;0.915;0.996;0.971	T	0.65207	-0.6224	10	0.72032	D	0.01	-7.4585	14.0245	0.64577	1.0:0.0:0.0:0.0	.	375;424;423;424	E9PD90;Q8WWK9;B2RMQ4;A8MYU4	.;CKAP2_HUMAN;.;.	S	424;423;423;424;375	ENSP00000258607:N423S;ENSP00000367273:N423S;ENSP00000367276:N424S;ENSP00000417830:N375S	ENSP00000258607:N423S	N	+	2	0	CKAP2	51934666	1.000000	0.71417	0.972000	0.41901	0.897000	0.52465	4.012000	0.57131	2.187000	0.69744	0.533000	0.62120	AAC	-	NULL		0.338	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CKAP2	protein_coding	OTTHUMT00000355010.2	A		-		53036665	+1	no_errors	ENST00000378037	ensembl	human	known	74_37	missense	SNP	0.994	G
TTN	7273	genome.wustl.edu	37	2	179417021	179417021	+	Silent	SNP	G	G	A			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr2:179417021G>A	ENST00000591111.1	-	285	85907	c.85683C>T	c.(85681-85683)taC>taT	p.Y28561Y	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.Y21329Y|TTN_ENST00000589042.1_Silent_p.Y30202Y|TTN_ENST00000342992.6_Silent_p.Y27634Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Silent_p.Y21262Y|TTN_ENST00000460472.2_Silent_p.Y21137Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28561	Ig-like 132.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATAACAGTGTATTTTCCTC	0.403																																																	0								ENSG00000155657						106.0	102.0	104.0					2																	179417021		1942	4130	6072	TTN	SO:0001819	synonymous_variant	0			-	HGNC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85683C>T	2.37:g.179417021G>A		Somatic	0	36	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Y27634	ENST00000591111.1	37	c.82902		2																																																																																			-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179417021	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	SNP	1.000	A
ZNF213	7760	genome.wustl.edu	37	16	3191240	3191240	+	Silent	SNP	C	C	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr16:3191240C>T	ENST00000396878.3	+	6	1747	c.1272C>T	c.(1270-1272)acC>acT	p.T424T	ZNF213_ENST00000416391.2_Silent_p.T266T|ZNF213_ENST00000576416.1_Silent_p.T424T|ZNF213_ENST00000574902.1_Silent_p.T424T	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	424					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)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GTGTGCACACCGGTGAGCGGC	0.662																																																	0								ENSG00000085644						40.0	41.0	41.0					16																	3191240		2196	4299	6495	ZNF213	SO:0001819	synonymous_variant	0			-	HGNC	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.1272C>T	16.37:g.3191240C>T		Somatic	0	42	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	A8K1B9|B4DMG6|Q96IS1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.T424	ENST00000396878.3	37	c.1272	CCDS10495.1	16																																																																																			-	pfscan_Znf_C2H2		0.662	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF213	protein_coding	OTTHUMT00000437334.1	C	NM_004220	-		3191240	+1	no_errors	ENST00000396878	ensembl	human	known	74_37	silent	SNP	0.123	T
ADCK5	203054	genome.wustl.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs563415390|rs148509143|rs374281647	byFrequency	TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1257_1267delGGGGGTGCAAGGTGA	c.(1255-1269)ctgggggtgcaaggt>ctgt	p.GVQG420del	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	420						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.73														3140	0.626997	0.8109	0.562	5008	,	,		8769	0.6577		0.4205	False		,,,				2504	0.6053																2	Unknown(2)	prostate(2)						ENSG00000173137			1836,894		805,226,334						4.5	0.7		dbSNP_120	4	2015,4403		639,737,1833	no	coding-near-splice	ADCK5	NM_174922.3		1444,963,2167	A1A1,A1R,RR		31.3961,32.7473,42.0966				3851,5297				ADCK5	SO:0001630	splice_region_variant	0				HGNC	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1267+1GGGGGTGCAAGGTGA>-	8.37:g.145617535_145617549delGGGGGTGCAAGGTGA		Somatic	NA	NA	NA		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.G420fs	ENST00000308860.6	37	c.1257_1267	CCDS34965.1	8																																																																																			-	NULL		0.730	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	protein_coding	OTTHUMT00000382556.2	GGGGGTGCAAGGTGA	NM_174922		In_Frame_Del	145617549	+1	no_errors	ENST00000308860	ensembl	human	known	74_37	frame_shift_del	DEL	0.999:0.998:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
USP8	9101	genome.wustl.edu	37	15	50784955	50784955	+	Missense_Mutation	SNP	C	C	A	rs74840283		TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr15:50784955C>A	ENST00000396444.3	+	15	2630	c.2292C>A	c.(2290-2292)aaC>aaA	p.N764K	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Missense_Mutation_p.N658K|USP8_ENST00000433963.1_Missense_Mutation_p.N764K|USP8_ENST00000307179.4_Missense_Mutation_p.N764K	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	764					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AGATTCGGAACCTCAATCCTG	0.408																																																	0								ENSG00000138592						135.0	121.0	126.0					15																	50784955		2196	4294	6490	USP8	SO:0001583	missense	0			-	HGNC	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2292C>A	15.37:g.50784955C>A	ENSP00000379721:p.Asn764Lys	Somatic	0	39	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	44	18.52	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67	p.N764K	ENST00000396444.3	37	c.2292	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650128	0.67472	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.18174	2.23;2.23;2.23;2.27	5.22	2.26	0.28386	.	0.395808	0.31859	N	0.006953	T	0.09069	0.0224	N	0.24115	0.695	0.48696	D	0.999694	B;B	0.26672	0.083;0.156	B;B	0.21546	0.035;0.03	T	0.19224	-1.0312	10	0.10902	T	0.67	-18.6446	9.071	0.36493	0.0:0.5813:0.0:0.4187	.	658;764	B4DKA8;P40818	.;UBP8_HUMAN	K	764;764;764;658	ENSP00000379721:N764K;ENSP00000405537:N764K;ENSP00000302239:N764K;ENSP00000412682:N658K	ENSP00000302239:N764K	N	+	3	2	USP8	48572247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.755000	0.26405	0.695000	0.31675	0.650000	0.86243	AAC	-	NULL		0.408	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	protein_coding	OTTHUMT00000254541.1	C	NM_005154	rs74840283		50784955	+1	no_errors	ENST00000307179	ensembl	human	known	74_37	missense	SNP	1.000	A
CUL9	23113	genome.wustl.edu	37	6	43154707	43154707	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr6:43154707C>T	ENST00000252050.4	+	5	1345	c.1261C>T	c.(1261-1263)Cag>Tag	p.Q421*	CUL9_ENST00000372647.2_Nonsense_Mutation_p.Q421*|CUL9_ENST00000354495.3_Intron	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	421					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGTTTTCTGGCAGTCGACAGG	0.562																																																	0								ENSG00000112659						76.0	74.0	75.0					6																	43154707		2203	4300	6503	CUL9	SO:0001587	stop_gained	0			-	HGNC	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1261C>T	6.37:g.43154707C>T	ENSP00000252050:p.Gln421*	Somatic	0	35	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.Q421*	ENST00000252050.4	37	c.1261	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.532927	0.97641	.	.	ENSG00000112659	ENST00000252050;ENST00000372647	.	.	.	5.11	5.11	0.69529	.	0.398769	0.26750	N	0.022698	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-21.8877	12.8918	0.58076	0.2856:0.7144:0.0:0.0	.	.	.	.	X	421	.	ENSP00000252050:Q421X	Q	+	1	0	CUL9	43262685	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	0.988000	0.29616	2.380000	0.81148	0.467000	0.42956	CAG	-	pfam_CPH_domain		0.562	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	protein_coding	OTTHUMT00000040582.2	C	NM_015089	-		43154707	+1	no_errors	ENST00000252050	ensembl	human	known	74_37	nonsense	SNP	1.000	T
USP8	9101	genome.wustl.edu	37	15	50784950	50784950	+	Missense_Mutation	SNP	C	C	T	rs78143971	byFrequency	TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr15:50784950C>T	ENST00000396444.3	+	15	2625	c.2287C>T	c.(2287-2289)Cgg>Tgg	p.R763W	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Missense_Mutation_p.R657W|USP8_ENST00000433963.1_Missense_Mutation_p.R763W|USP8_ENST00000307179.4_Missense_Mutation_p.R763W	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	763					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTCTCAGATTCGGAACCTCAA	0.403																																																	0								ENSG00000138592						133.0	120.0	125.0					15																	50784950		2196	4294	6490	USP8	SO:0001583	missense	0			-	HGNC	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2287C>T	15.37:g.50784950C>T	ENSP00000379721:p.Arg763Trp	Somatic	0	37	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	42	16.00	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67	p.R763W	ENST00000396444.3	37	c.2287	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628030	0.87560	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.21031	2.03;2.03;2.03;2.07	5.22	5.22	0.72569	.	0.556073	0.19308	N	0.117479	T	0.32255	0.0823	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.995;0.999	P;P	0.61477	0.889;0.889	T	0.02320	-1.1177	10	0.56958	D	0.05	-12.0933	15.5388	0.76024	0.1385:0.8615:0.0:0.0	.	657;763	B4DKA8;P40818	.;UBP8_HUMAN	W	763;763;763;657	ENSP00000379721:R763W;ENSP00000405537:R763W;ENSP00000302239:R763W;ENSP00000412682:R657W	ENSP00000302239:R763W	R	+	1	2	USP8	48572242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.586000	0.53950	2.593000	0.87608	0.650000	0.86243	CGG	-	NULL		0.403	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	protein_coding	OTTHUMT00000254541.1	C	NM_005154	rs78143971		50784950	+1	no_errors	ENST00000307179	ensembl	human	known	74_37	missense	SNP	1.000	T
GJA4	2701	genome.wustl.edu	37	1	35259912	35259912	+	Missense_Mutation	SNP	G	G	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr1:35259912G>T	ENST00000342280.4	+	2	186	c.98G>T	c.(97-99)cGc>cTc	p.R33L		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	33					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TTCATCTTCCGCATCCTCATC	0.602																																																	0								ENSG00000187513						152.0	129.0	137.0					1																	35259912		2203	4300	6503	GJA4	SO:0001583	missense	0			-	HGNC	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"""Ion channels / Gap junction proteins (connexins)"""	4278	protein-coding gene	gene with protein product	"""connexin 37"""	121012	"""gap junction protein, alpha 4, 37kD (connexin 37)"", ""gap junction protein, alpha 4, 37kDa (connexin 37)"""			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.98G>T	1.37:g.35259912G>T	ENSP00000343676:p.Arg33Leu	Somatic	0	25	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin37	p.R33L	ENST00000342280.4	37	c.98	CCDS30669.1	1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968536	0.92855	.	.	ENSG00000187513	ENST00000342280;ENST00000450137;ENST00000543143	D;D	0.99683	-6.39;-6.39	5.48	5.48	0.80851	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.96631	0.9467	10	0.87932	D	0	.	19.3486	0.94374	0.0:0.0:1.0:0.0	.	33;33	Q5JW71;P35212	.;CXA4_HUMAN	L	33	ENSP00000343676:R33L;ENSP00000409186:R33L	ENSP00000343676:R33L	R	+	2	0	GJA4	35032499	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.807000	0.99171	2.546000	0.85860	0.655000	0.94253	CGC	-	pfam_Connexin_N,prints_Connexin		0.602	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJA4	protein_coding	OTTHUMT00000011556.1	G	NM_002060	-		35259912	+1	no_errors	ENST00000342280	ensembl	human	known	74_37	missense	SNP	1.000	T
SCAP	22937	genome.wustl.edu	37	3	47462189	47462189	+	Missense_Mutation	SNP	C	C	T	rs368653657		TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr3:47462189C>T	ENST00000265565.5	-	12	1830	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	SCAP_ENST00000545718.1_Missense_Mutation_p.R81H|SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000441517.2_Missense_Mutation_p.R218H	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	473					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCGCTCGTAGCGCGTTGGCTG	0.652											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(149;978 1908 29304 37806 46700)												0								ENSG00000114650	C	HIS/ARG	0,4406		0,0,2203	51.0	53.0	52.0		1418	5.0	0.5	3		52	1,8595	1.2+/-3.3	0,1,4297	no	missense	SCAP	NM_012235.2	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	473/1280	47462189	1,13001	2203	4298	6501	SCAP	SO:0001583	missense	0			-	HGNC	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1418G>A	3.37:g.47462189C>T	ENSP00000265565:p.Arg473His	Somatic	0	80	0.00	947	0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	84	30.00	Q8N2E0|Q8WUA1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R473H	ENST00000265565.5	37	c.1418	CCDS2755.2	3	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042508	0.75732	0.0	1.16E-4	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718;ENST00000383739	T;T;T	0.81163	-1.46;-1.41;0.74	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.87152	0.6106	L	0.50333	1.59	0.53005	D	0.999961	D;P	0.89917	1.0;0.827	D;B	0.83275	0.996;0.176	D	0.86385	0.1732	10	0.44086	T	0.13	-27.3254	18.138	0.89627	0.0:1.0:0.0:0.0	.	218;473	F8W921;Q12770	.;SCAP_HUMAN	H	473;100;473;218;81;166	ENSP00000265565:R473H;ENSP00000416847:R218H;ENSP00000438956:R81H	ENSP00000265565:R473H	R	-	2	0	SCAP	47437193	0.998000	0.40836	0.478000	0.27316	0.057000	0.15508	5.226000	0.65299	2.629000	0.89072	0.462000	0.41574	CGC	-	NULL		0.652	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	protein_coding	OTTHUMT00000246872.2	C	NM_012235	-		47462189	-1	no_errors	ENST00000265565	ensembl	human	known	74_37	missense	SNP	0.998	T
RPSAP52	204010	genome.wustl.edu	37	12	66152073	66152073	+	RNA	SNP	C	C	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr12:66152073C>T	ENST00000489520.2	-	0	870					NR_026825.2				ribosomal protein SA pseudogene 52																		TAACAGTGAACTCAGGAGCTG	0.493																																																	0								ENSG00000241749																																			RPSAP52			0			-	HGNC			12q14.3	2010-09-24			ENSG00000241749	ENSG00000241749			35752	pseudogene	pseudogene						19123937	Standard	NR_026825		Approved		uc001sso.4		OTTHUMG00000157608		12.37:g.66152073C>T		Somatic	0	35	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000489520.2	37	NULL		12																																																																																			-	-		0.493	RPSAP52-002	KNOWN	basic	processed_transcript	RPSAP52	pseudogene	OTTHUMT00000349256.2	C	NG_006174	-		66152073	-1	no_errors	ENST00000489520	ensembl	human	known	74_37	rna	SNP	1.000	T
ZNF264	9422	genome.wustl.edu	37	19	57724348	57724348	+	Nonstop_Mutation	SNP	G	G	T			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr19:57724348G>T	ENST00000263095.6	+	4	2297	c.1883G>T	c.(1882-1884)tGa>tTa	p.*628L	ZNF264_ENST00000536056.1_Nonstop_Mutation_p.*628L	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TCTTCACTGTGAGAAAACCTT	0.388																																																	0								ENSG00000083844						50.0	50.0	50.0					19																	57724348		2203	4300	6503	ZNF264	SO:0001578	stop_lost	0			-	HGNC	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1883G>T	19.37:g.57724348G>T	ENSP00000263095:p.*628Leuext*43	Somatic	0	35	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8K8Y9|Q9P1V0	Nonstop_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.*628L	ENST00000263095.6	37	c.1883	CCDS33127.1	19	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031863	0.35797	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	.	.	.	2.56	1.5	0.22942	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4546	0.21922	0.1607:0.0:0.8393:0.0	.	.	.	.	L	628	.	.	X	+	2	2	ZNF264	62416160	0.337000	0.24766	0.686000	0.30086	0.841000	0.47740	0.397000	0.20883	0.620000	0.30215	0.491000	0.48974	TGA	-	NULL		0.388	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF264	protein_coding	OTTHUMT00000465080.1	G		-		57724348	+1	no_errors	ENST00000263095	ensembl	human	known	74_37	nonstop	SNP	0.982	T
HNRNPA2B1	3181	genome.wustl.edu	37	7	26230766	26230766	+	3'UTR	DEL	A	A	-			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr7:26230766delA	ENST00000354667.4	-	0	2444				HNRNPA2B1_ENST00000476233.1_5'UTR	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TCCGGCAGGGAAAAAAATGAT	0.393			T	ETV1	prostate																																			Dom	yes		7	7p15	3181	heterogeneous nuclear ribonucleoprotein A2/B1		E	0								ENSG00000122566																																			HNRNPA2B1	SO:0001624	3_prime_UTR_variant	0				HGNC	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.*1214T>-	7.37:g.26230766delA		Somatic	0	29	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38	A8K064|P22627|Q9UC98|Q9UDJ2	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000354667.4	37	NULL	CCDS43557.1	7																																																																																			-	-		0.393	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	HNRNPA2B1	protein_coding	OTTHUMT00000214109.1	A	NM_002137			26230766	-1	no_errors	ENST00000476233	ensembl	human	known	74_37	rna	DEL	1.000	-
SYNE2	23224	genome.wustl.edu	37	14	64492098	64492098	+	Frame_Shift_Del	DEL	G	G	-	rs551783338		TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr14:64492098delG	ENST00000344113.4	+	41	6423	c.6211delG	c.(6211-6213)gaafs	p.E2071fs	SYNE2_ENST00000358025.3_Frame_Shift_Del_p.E2071fs|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.E2071fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2071					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAATTCATCCGAAGGCAAAAT	0.348																																																	0								ENSG00000054654						61.0	57.0	59.0					14																	64492098		1813	4079	5892	SYNE2	SO:0001589	frameshift_variant	0				HGNC	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6211delG	14.37:g.64492098delG	ENSP00000341781:p.Glu2071fs	Somatic	0	38	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	36	26.53	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E2071fs	ENST00000344113.4	37	c.6211	CCDS41963.1	14																																																																																			-	smart_Spectrin/alpha-actinin		0.348	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	G	NM_182914			64492098	+1	no_errors	ENST00000358025	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
FAM107B	83641	genome.wustl.edu	37	10	14709678	14709678	+	Missense_Mutation	SNP	G	G	C	rs111681891		TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr10:14709678G>C	ENST00000181796.2	-	2	657	c.424C>G	c.(424-426)Cga>Gga	p.R142G		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	74					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGTTCTTCTCGAAATTCTTCT	0.423																																																	0								ENSG00000065809						124.0	113.0	117.0					10																	14709678		2203	4300	6503	FAM107B	SO:0001583	missense	0			-	HGNC	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.424C>G	10.37:g.14709678G>C	ENSP00000181796:p.Arg142Gly	Somatic	0	50	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	41	28.07	A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF1151	p.R142G	ENST00000181796.2	37	c.424	CCDS7102.1	10	.	.	.	.	.	.	.	.	.	.	G	2.651	-0.282021	0.05642	.	.	ENSG00000065809	ENST00000181796	T	0.55234	0.53	4.52	4.52	0.55395	.	0.873774	0.09578	N	0.783258	T	0.38401	0.1039	N	0.14661	0.345	0.58432	D	0.999997	B	0.20261	0.043	B	0.19946	0.027	T	0.08889	-1.0700	10	0.33940	T	0.23	.	12.9327	0.58296	0.0:0.0:1.0:0.0	.	142	Q9H098-2	.	G	142	ENSP00000181796:R142G	ENSP00000181796:R142G	R	-	1	2	FAM107B	14749684	0.221000	0.23642	0.429000	0.26710	0.190000	0.23558	4.235000	0.58666	2.518000	0.84900	0.555000	0.69702	CGA	-	NULL		0.423	FAM107B-001	KNOWN	basic|CCDS	protein_coding	FAM107B	protein_coding	OTTHUMT00000356966.1	G	NM_031453	-		14709678	-1	no_errors	ENST00000181796	ensembl	human	known	74_37	missense	SNP	0.237	C
LILRB1	10859	genome.wustl.edu	37	19	55144554	55144554	+	Missense_Mutation	SNP	A	A	G			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr19:55144554A>G	ENST00000396331.1	+	8	1403	c.1046A>G	c.(1045-1047)cAg>cGg	p.Q349R	LILRB1_ENST00000434867.2_Missense_Mutation_p.Q349R|LILRB1_ENST00000448689.1_Missense_Mutation_p.Q349R|LILRB1_ENST00000396317.1_Missense_Mutation_p.Q349R|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q349R|LILRB1_ENST00000427581.2_Missense_Mutation_p.Q385R|LILRB1_ENST00000396332.4_Missense_Mutation_p.Q349R|LILRB1_ENST00000396327.3_Missense_Mutation_p.Q349R|LILRB1_ENST00000396321.2_Missense_Mutation_p.Q349R|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q349R|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q349R	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	349	Ig-like C2-type 4.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGTCAGTCACAGGGATGGATG	0.542										HNSCC(37;0.09)																																							0								ENSG00000104972						97.0	102.0	100.0					19																	55144554		2203	4300	6503	LILRB1	SO:0001583	missense	0			-	HGNC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1046A>G	19.37:g.55144554A>G	ENSP00000379622:p.Gln349Arg	Somatic	0	64	0.00		0.51722189497785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	49	33.78	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q349R	ENST00000396331.1	37	c.1046	CCDS42617.1	19	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.792753	0.00623	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.02944	4.1;4.1;4.1;4.1;4.1;4.1;4.1;4.1;4.1;4.1;4.1	2.25	-4.49	0.03504	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	4.818320	0.00397	N	0.000054	T	0.01835	0.0058	N	0.16098	0.37	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.12156	0.002;0.007;0.002;0.001;0.004	T	0.40664	-0.9551	10	0.13470	T	0.59	.	1.8021	0.03073	0.4296:0.2253:0.232:0.113	.	349;349;349;349;349	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	R	349;349;349;349;349;349;349;349;385;349;349	ENSP00000379614:Q349R;ENSP00000391514:Q349R;ENSP00000409968:Q349R;ENSP00000379622:Q349R;ENSP00000379618:Q349R;ENSP00000315997:Q349R;ENSP00000405243:Q349R;ENSP00000379623:Q349R;ENSP00000395004:Q385R;ENSP00000379610:Q349R;ENSP00000379608:Q349R	ENSP00000315997:Q349R	Q	+	2	0	LILRB1	59836366	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.352000	0.00248	-5.677000	0.00011	-4.351000	0.00007	CAG	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.542	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB1	protein_coding	OTTHUMT00000140796.4	A		-		55144554	+1	no_errors	ENST00000324602	ensembl	human	known	74_37	missense	SNP	0.000	G
