#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADA	100	genome.wustl.edu	37	20	43249699	43249699	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr20:43249699T>C	ENST00000372874.4	-	10	1069	c.935A>G	c.(934-936)aAa>aGa	p.K312R	PKIG_ENST00000372887.1_Intron|ADA_ENST00000464097.1_5'UTR|Z97053.1_ENST00000597250.1_5'Flank|ADA_ENST00000537820.1_Missense_Mutation_p.K288R|PKIG_ENST00000372882.3_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	312					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CATGTCCCGTTTGGTCATCTG	0.502									Adenosine Deaminase Deficiency																													dbGAP											0													199.0	173.0	182.0					20																	43249699		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.935A>G	20.37:g.43249699T>C	ENSP00000361965:p.Lys312Arg		Q53F92|Q6LA59	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase	p.K312R	ENST00000372874.4	37	c.935	CCDS13335.1	20	.	.	.	.	.	.	.	.	.	.	T	7.606	0.673785	0.14841	.	.	ENSG00000196839	ENST00000372874;ENST00000537820	D;D	0.96300	-3.97;-3.97	5.45	5.45	0.79879	Adenosine/AMP deaminase (1);	0.329934	0.36234	N	0.002713	D	0.92306	0.7559	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.79507	-0.1775	10	0.15066	T	0.55	-10.5347	7.0909	0.25283	0.0:0.0743:0.149:0.7767	.	312	P00813	ADA_HUMAN	R	312;288	ENSP00000361965:K312R;ENSP00000441818:K288R	ENSP00000361965:K312R	K	-	2	0	ADA	42683113	0.925000	0.31364	0.321000	0.25320	0.967000	0.64934	2.332000	0.43903	2.200000	0.70718	0.460000	0.39030	AAA	ADA	-	pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase	ENSG00000196839		0.502	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADA	HGNC	protein_coding	OTTHUMT00000080509.2	85	0.00	0	T	NM_000022		43249699	43249699	-1	no_errors	ENST00000372874	ensembl	human	known	69_37n	missense	42	26.32	15	SNP	0.004	C
APOB	338	genome.wustl.edu	37	2	21234125	21234125	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr2:21234125A>T	ENST00000233242.1	-	26	5742	c.5615T>A	c.(5614-5616)aTc>aAc	p.I1872N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1872					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCCAGCGATGTCTGTGTT	0.473																																						dbGAP											0													124.0	117.0	120.0					2																	21234125		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5615T>A	2.37:g.21234125A>T	ENSP00000233242:p.Ile1872Asn		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.I1872N	ENST00000233242.1	37	c.5615	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270649	0.40194	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01025	5.43	5.8	3.47	0.39725	.	0.239066	0.30060	N	0.010510	T	0.01454	0.0047	L	0.54323	1.7	0.58432	D	0.999992	P	0.45902	0.868	B	0.42214	0.38	T	0.65393	-0.6179	10	0.87932	D	0	.	9.5084	0.39062	0.8584:0.0:0.1416:0.0	.	1872	P04114	APOB_HUMAN	N	1872	ENSP00000233242:I1872N	ENSP00000233242:I1872N	I	-	2	0	APOB	21087630	0.927000	0.31430	0.294000	0.24946	0.987000	0.75469	7.475000	0.81041	1.024000	0.39682	0.528000	0.53228	ATC	APOB	-	NULL	ENSG00000084674		0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	231	0.00	0	A			21234125	21234125	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	missense	195	19.34	47	SNP	0.076	T
ATF7IP	55729	genome.wustl.edu	37	12	14631311	14631311	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr12:14631311G>A	ENST00000540793.1	+	11	3157	c.3002G>A	c.(3001-3003)cGa>cAa	p.R1001Q	ATF7IP_ENST00000536444.1_Missense_Mutation_p.R1000Q|ATF7IP_ENST00000544627.1_Missense_Mutation_p.R1009Q|ATF7IP_ENST00000261168.4_Missense_Mutation_p.R1001Q|ATF7IP_ENST00000543189.1_Missense_Mutation_p.R1000Q			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1001					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CCTGTGTCACGACCATTGCAA	0.433																																						dbGAP											0													188.0	180.0	183.0					12																	14631311		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3002G>A	12.37:g.14631311G>A	ENSP00000444589:p.Arg1001Gln		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.R1001Q	ENST00000540793.1	37	c.3002	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608684	0.87258	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.22945	1.94;2.12;1.98;1.93;1.94	5.52	5.52	0.82312	.	0.129968	0.35495	N	0.003166	T	0.47801	0.1465	L	0.47716	1.5	0.51482	D	0.99992	P;P;D	0.89917	0.897;0.897;1.0	B;B;D	0.91635	0.267;0.267;0.999	T	0.39078	-0.9631	10	0.72032	D	0.01	-9.6473	19.8097	0.96542	0.0:0.0:1.0:0.0	.	1000;1001;1000	G3V1U0;Q6VMQ6;Q6VMQ6-2	.;MCAF1_HUMAN;.	Q	1001;1000;1000;1009;1001	ENSP00000261168:R1001Q;ENSP00000443179:R1000Q;ENSP00000445955:R1000Q;ENSP00000440440:R1009Q;ENSP00000444589:R1001Q	ENSP00000261168:R1001Q	R	+	2	0	ATF7IP	14522578	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.741000	0.62095	2.745000	0.94114	0.650000	0.86243	CGA	ATF7IP	-	NULL	ENSG00000171681		0.433	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	363	0.00	0	G	NM_018179		14631311	14631311	+1	no_errors	ENST00000261168	ensembl	human	known	69_37n	missense	191	34.36	100	SNP	1.000	A
CARD10	29775	genome.wustl.edu	37	22	37898726	37898727	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr22:37898726_37898727insT	ENST00000403299.1	-	12	1885_1886	c.1669_1670insA	c.(1669-1671)gtgfs	p.V557fs	CARD10_ENST00000251973.5_Frame_Shift_Ins_p.V557fs|CARD10_ENST00000406271.3_Frame_Shift_Ins_p.V271fs			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	557					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CTTAAGTGTCACACTCCCTGGG	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1669_1670insA	22.37:g.37898726_37898727insT	ENSP00000384570:p.Val557fs		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Frame_Shift_Ins	INS	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.V557fs	ENST00000403299.1	37	c.1670_1669	CCDS13948.1	22																																																																																			CARD10	-	NULL	ENSG00000100065		0.619	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	HGNC	protein_coding	OTTHUMT00000318997.1	10	0.00	0	-	NM_014550		37898726	37898727	-1	no_errors	ENST00000251973	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:0.998	T
CARD10	29775	genome.wustl.edu	37	22	37898728	37898729	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr22:37898728_37898729insT	ENST00000403299.1	-	12	1883_1884	c.1667_1668insA	c.(1666-1668)agtfs	p.S556fs	CARD10_ENST00000251973.5_Frame_Shift_Ins_p.S556fs|CARD10_ENST00000406271.3_Frame_Shift_Ins_p.S270fs			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	556					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TAAGTGTCACACTCCCTGGGGA	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1667_1668insA	22.37:g.37898728_37898729insT	ENSP00000384570:p.Ser556fs		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Frame_Shift_Ins	INS	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.S556fs	ENST00000403299.1	37	c.1668_1667	CCDS13948.1	22																																																																																			CARD10	-	NULL	ENSG00000100065		0.619	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	HGNC	protein_coding	OTTHUMT00000318997.1	11	0.00	0	-	NM_014550		37898728	37898729	-1	no_errors	ENST00000251973	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.991:1.000	T
CD1D	912	genome.wustl.edu	37	1	158151458	158151458	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr1:158151458G>A	ENST00000368171.3	+	3	774	c.275G>A	c.(274-276)cGa>cAa	p.R92Q		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	92					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CGGGTTTATCGAAGCAGCTTC	0.562																																						dbGAP											0													59.0	62.0	61.0					1																	158151458		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.275G>A	1.37:g.158151458G>A	ENSP00000357153:p.Arg92Gln		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.R92Q	ENST00000368171.3	37	c.275	CCDS1173.1	1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007623	0.35415	.	.	ENSG00000158473	ENST00000368171	T	0.06068	3.35	4.63	-0.0336	0.13900	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.413352	0.18119	N	0.151115	T	0.08447	0.0210	M	0.77103	2.36	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.14559	-1.0468	10	0.30078	T	0.28	-8.0175	5.4963	0.16805	0.1015:0.0:0.3525:0.546	.	92	P15813	CD1D_HUMAN	Q	92	ENSP00000357153:R92Q	ENSP00000357153:R92Q	R	+	2	0	CD1D	156418082	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	0.198000	0.17217	0.147000	0.19030	0.655000	0.94253	CGA	CD1D	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158473		0.562	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1D	HGNC	protein_coding	OTTHUMT00000058340.1	125	0.00	0	G	NM_001766		158151458	158151458	+1	no_errors	ENST00000368171	ensembl	human	known	69_37n	missense	62	39.22	40	SNP	0.000	A
CLCN4	1183	genome.wustl.edu	37	X	10176393	10176393	+	Silent	SNP	C	C	T			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chrX:10176393C>T	ENST00000380833.4	+	9	1543	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A	CLCN4_ENST00000421085.2_Silent_p.A290A|CLCN4_ENST00000380829.1_Silent_p.A353A	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	384					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCATCATTGCCTACCCCAATC	0.572																																					Melanoma(74;1050 1296 1576 30544 38374)	dbGAP											0													184.0	172.0	176.0					X																	10176393		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1152C>T	X.37:g.10176393C>T			A1L3U1|B7Z5Z4|Q9UBU1	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-4	p.A384	ENST00000380833.4	37	c.1152	CCDS14137.1	X																																																																																			CLCN4	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000073464		0.572	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN4	HGNC	protein_coding	OTTHUMT00000055730.1	470	0.00	0	C			10176393	10176393	+1	no_errors	ENST00000380833	ensembl	human	known	69_37n	silent	336	15.79	63	SNP	1.000	T
CSHL1	1444	genome.wustl.edu	37	17	61988207	61988207	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr17:61988207C>T	ENST00000309894.5	-	2	87	c.88G>A	c.(88-90)Gtt>Att	p.V30I	CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000392824.4_Missense_Mutation_p.V30I|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_Intron	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	30						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						GATAAGGGAACGGTTTGGACG	0.582																																						dbGAP											0													53.0	57.0	55.0					17																	61988207		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.88G>A	17.37:g.61988207C>T	ENSP00000309524:p.Val30Ile		D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.V30I	ENST00000309894.5	37	c.88	CCDS11652.1	17	.	.	.	.	.	.	.	.	.	.	c	7.777	0.708734	0.15239	.	.	ENSG00000204414	ENST00000309894;ENST00000259003;ENST00000450719;ENST00000392824	D;D	0.88277	-2.36;-2.36	2.84	1.55	0.23275	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.268407	0.42964	D	0.000631	T	0.77046	0.4073	N	0.01668	-0.77	0.18873	N	0.999989	D;B;B	0.59357	0.985;0.008;0.042	D;B;B	0.68621	0.959;0.015;0.015	T	0.72161	-0.4374	10	0.02654	T	1	.	4.7454	0.13035	0.0:0.1619:0.0:0.8381	.	30;30;30	B7Z6E9;Q14406;Q14406-2	.;CSHL_HUMAN;.	I	30	ENSP00000309524:V30I;ENSP00000376569:V30I	ENSP00000259003:V30I	V	-	1	0	GH1	59341939	1.000000	0.71417	0.112000	0.21494	0.001000	0.01503	1.509000	0.35780	0.294000	0.22547	-0.680000	0.03767	GTT	CSHL1	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core	ENSG00000204414		0.582	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	CSHL1	HGNC	protein_coding	OTTHUMT00000444557.1	81	0.00	0	C	NM_022579		61988207	61988207	-1	no_errors	ENST00000309894	ensembl	human	known	69_37n	missense	59	16.67	12	SNP	0.612	T
EGF	1950	genome.wustl.edu	37	4	110901145	110901145	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr4:110901145G>A	ENST00000265171.5	+	14	2516	c.2071G>A	c.(2071-2073)Gca>Aca	p.A691T	EGF_ENST00000503392.1_Missense_Mutation_p.A691T|EGF_ENST00000509793.1_Missense_Mutation_p.A649T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	691					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	ATTTGCTGTAGCAGTGTTTGA	0.403																																						dbGAP											0													241.0	227.0	232.0					4																	110901145		2203	4300	6503	-	-	-	SO:0001583	missense	0			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2071G>A	4.37:g.110901145G>A	ENSP00000265171:p.Ala691Thr		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_LDLR_classB_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.A691T	ENST00000265171.5	37	c.2071	CCDS3689.1	4	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129461	0.37630	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.97620	-4.46;-4.46;-4.46	5.44	5.44	0.79542	Six-bladed beta-propeller, TolB-like (1);	0.049028	0.85682	D	0.000000	D	0.96334	0.8804	L	0.33189	0.99	0.54753	D	0.999983	D;D;D	0.89917	0.999;0.986;1.0	D;D;D	0.79108	0.973;0.92;0.992	D	0.93364	0.6729	10	0.05620	T	0.96	.	14.1538	0.65405	0.0:0.0:0.8501:0.1499	.	691;649;691	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	T	649;691;691	ENSP00000424316:A649T;ENSP00000265171:A691T;ENSP00000421384:A691T	ENSP00000265171:A691T	A	+	1	0	EGF	111120594	1.000000	0.71417	0.673000	0.29887	0.066000	0.16364	5.093000	0.64517	2.553000	0.86117	0.655000	0.94253	GCA	EGF	-	pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000138798		0.403	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	HGNC	protein_coding	OTTHUMT00000255065.1	245	0.00	0	G			110901145	110901145	+1	no_errors	ENST00000265171	ensembl	human	known	69_37n	missense	139	38.33	87	SNP	0.993	A
FUS	2521	genome.wustl.edu	37	16	31202420	31202420	+	Missense_Mutation	SNP	G	G	C	rs1132415		TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr16:31202420G>C	ENST00000254108.7	+	14	1635	c.1530G>C	c.(1528-1530)aaG>aaC	p.K510N	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Missense_Mutation_p.K511N|FUS_ENST00000380244.3_Missense_Mutation_p.K509N	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	510	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GCCCTGGCAAGATGGATTCCA	0.547			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	dbGAP		Dom	yes		16	16p11.2	2521	"""fusion, derived from t(12;16) malignant liposarcoma"""		"""M, L"""	0													24.0	30.0	28.0					16																	31202420		2087	4220	6307	-	-	-	SO:0001583	missense	0			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1530G>C	16.37:g.31202420G>C	ENSP00000254108:p.Lys510Asn		Q9H4A8	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.K510N	ENST00000254108.7	37	c.1530	CCDS10707.1	16	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295316	0.40594	.	.	ENSG00000089280	ENST00000254108;ENST00000394533	D	0.97731	-4.51	5.17	4.21	0.49690	.	0.106801	0.64402	D	0.000009	D	0.97105	0.9054	M	0.62723	1.935	0.45216	D	0.998221	D;D;D;D;D	0.64830	0.994;0.984;0.99;0.994;0.984	P;P;P;P;P	0.55455	0.767;0.601;0.776;0.767;0.601	D	0.96155	0.9111	10	0.87932	D	0	-6.472	5.57	0.17192	0.1646:0.1733:0.662:0.0	.	510;510;509;284;510	Q8TBR3;Q6IBQ5;P35637-2;Q59H57;P35637	.;.;.;.;FUS_HUMAN	N	510;413	ENSP00000254108:K510N	ENSP00000254108:K510N	K	+	3	2	FUS	31109921	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	2.638000	0.46562	1.159000	0.42565	-0.515000	0.04445	AAG	FUS	-	NULL	ENSG00000089280		0.547	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FUS	HGNC	protein_coding	OTTHUMT00000255526.2	51	0.00	0	G	NM_004960		31202420	31202420	+1	no_errors	ENST00000254108	ensembl	human	known	69_37n	missense	33	35.29	18	SNP	1.000	C
GDI1	2664	genome.wustl.edu	37	X	153670141	153670141	+	Splice_Site	SNP	G	G	A			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chrX:153670141G>A	ENST00000447750.2	+	8	1326	c.991G>A	c.(991-993)Gac>Aac	p.D331N	GDI1_ENST00000465640.1_3'UTR|FAM50A_ENST00000393600.3_5'Flank	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	331					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGAAGTCAGGTAGGCCGGG	0.532																																						dbGAP											0													105.0	92.0	97.0					X																	153670141		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.991+1G>A	X.37:g.153670141G>A			P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor	p.D331N	ENST00000447750.2	37	c.991	CCDS35452.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.195838	0.94960	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	D	0.91011	-2.77	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.96605	0.8892	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97710	1.0190	10	0.87932	D	0	-14.3817	15.3157	0.74074	0.0:0.0:1.0:0.0	.	331	P31150	GDIA_HUMAN	N	331;315	ENSP00000394071:D331N	ENSP00000358756:D315N	D	+	1	0	GDI1	153323335	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.760000	0.98935	2.207000	0.71202	0.436000	0.28706	GAC	GDI1	-	pfam_GDP_dissociation_inhibitor,prints_RabGDI	ENSG00000203879		0.532	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDI1	HGNC	protein_coding	OTTHUMT00000081649.2	42	0.00	0	G	NM_001493	Missense_Mutation	153670141	153670141	+1	no_errors	ENST00000447750	ensembl	human	known	69_37n	missense	15	48.28	14	SNP	1.000	A
LDB1	8861	genome.wustl.edu	37	10	103869779	103869779	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr10:103869779A>G	ENST00000425280.1	-	7	889	c.547T>C	c.(547-549)Tac>Cac	p.Y183H	LDB1_ENST00000361198.5_Missense_Mutation_p.Y147H|LDB1_ENST00000490751.1_5'Flank	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	183					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		AACTCCAGGTACAACCGGCCC	0.557																																						dbGAP											0													120.0	96.0	104.0					10																	103869779		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.547T>C	10.37:g.103869779A>G	ENSP00000392466:p.Tyr183His		B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	NULL	p.Y183H	ENST00000425280.1	37	c.547	CCDS44472.1	10	.	.	.	.	.	.	.	.	.	.	A	21.9	4.211276	0.79240	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	.	.	.	5.69	3.26	0.37387	.	0.054283	0.85682	D	0.000000	T	0.60932	0.2307	N	0.24115	0.695	0.58432	D	0.999997	D;D	0.69078	0.997;0.967	D;P	0.81914	0.995;0.689	T	0.61903	-0.6967	9	0.87932	D	0	.	11.018	0.47701	0.752:0.0:0.0:0.248	.	183;147	Q86U70;Q86U70-3	LDB1_HUMAN;.	H	147;183	.	ENSP00000354616:Y147H	Y	-	1	0	LDB1	103859769	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.015000	0.64035	0.377000	0.24735	0.379000	0.24179	TAC	LDB1	-	NULL	ENSG00000198728		0.557	LDB1-201	KNOWN	basic|CCDS	protein_coding	LDB1	HGNC	protein_coding		52	0.00	0	A	NM_001113407		103869779	103869779	-1	no_errors	ENST00000425280	ensembl	human	known	69_37n	missense	34	19.05	8	SNP	1.000	G
MALAT1	378938	genome.wustl.edu	37	11	65273405	65273407	+	lincRNA	DEL	CTG	CTG	-			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr11:65273405_65273407delCTG	ENST00000534336.1	+	0	8173_8175					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		CAAAAATTCTCTGCTAAGACTTT	0.443																																						dbGAP											0																																										-	-	-			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273405_65273407delCTG				RNA	DEL	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.443	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	161	0.00	0	CTG	NR_002819		65273405	65273407	+1	no_errors	ENST00000534336	ensembl	human	known	69_37n	rna	102	30.92	47	DEL	1.000:1.000:1.000	-
MYL6	4637	genome.wustl.edu	37	12	56554049	56554049	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr12:56554049A>C	ENST00000550697.1	+	5	613	c.372A>C	c.(370-372)gaA>gaC	p.E124D	RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000547408.1_Missense_Mutation_p.E124D|MYL6_ENST00000547649.1_Missense_Mutation_p.E124D|MYL6_ENST00000549566.1_Missense_Mutation_p.E169D|MYL6_ENST00000548293.1_Missense_Mutation_p.E124D|MYL6_ENST00000551589.1_Missense_Mutation_p.E124D|MYL6_ENST00000548400.1_Missense_Mutation_p.E88D|MYL6_ENST00000293422.5_Missense_Mutation_p.E125D|MYL6_ENST00000549017.1_Missense_Mutation_p.E20D|MYL6_ENST00000548580.1_Missense_Mutation_p.E76D|MYL6_ENST00000348108.4_Missense_Mutation_p.E125D|RP11-977G19.5_ENST00000553176.1_RNA|MYL6_ENST00000536128.1_Missense_Mutation_p.E217D	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	124	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.E124delE(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			CAGAGGAAGAAGTAGAGATGC	0.493																																						dbGAP											1	Deletion - In frame(1)	prostate(1)											80.0	72.0	75.0					12																	56554049		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"""Myosins / Light chain"", ""EF-hand domain containing"""	7587	protein-coding gene	gene with protein product		609931	"""myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"""			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.372A>C	12.37:g.56554049A>C	ENSP00000446955:p.Glu124Asp		P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E124D	ENST00000550697.1	37	c.372	CCDS8906.1	12	.	.	.	.	.	.	.	.	.	.	A	17.67	3.448083	0.63178	.	.	ENSG00000092841	ENST00000550697;ENST00000548580;ENST00000293422;ENST00000348108;ENST00000549017;ENST00000549566;ENST00000536128;ENST00000547649;ENST00000547408;ENST00000551589;ENST00000549392;ENST00000548400;ENST00000548293	D;D;D;D;T;D;D;D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;0.67;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	4.01	4.01	0.46588	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93628	0.7965	M	0.90705	3.14	0.80722	D	1	D;P;D;D	0.61697	0.99;0.92;0.97;0.99	P;P;P;D	0.66979	0.83;0.736;0.856;0.948	D	0.94593	0.7789	10	0.87932	D	0	.	12.3705	0.55252	1.0:0.0:0.0:0.0	.	217;124;124;124	B7Z6Z4;P60660-2;P60660;F8W1R7	.;.;MYL6_HUMAN;.	D	124;76;125;125;20;169;217;124;124;124;112;88;124	ENSP00000446955:E124D;ENSP00000446640:E76D;ENSP00000293422:E125D;ENSP00000301540:E125D;ENSP00000449086:E20D;ENSP00000446709:E169D;ENSP00000441750:E217D;ENSP00000446714:E124D;ENSP00000446721:E124D;ENSP00000446687:E124D;ENSP00000450116:E112D;ENSP00000448859:E88D;ENSP00000448101:E124D	ENSP00000293422:E125D	E	+	3	2	MYL6	54840316	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	0.686000	0.25392	1.840000	0.53500	0.379000	0.24179	GAA	MYL6	-	smart_EF_hand_Ca-bd	ENSG00000092841		0.493	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	MYL6	HGNC	protein_coding	OTTHUMT00000407928.3	121	0.00	0	A			56554049	56554049	+1	no_errors	ENST00000547649	ensembl	human	known	69_37n	missense	68	24.44	22	SNP	1.000	C
OR8K1	390157	genome.wustl.edu	37	11	56114030	56114030	+	Silent	SNP	G	G	A			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr11:56114030G>A	ENST00000279783.2	+	1	610	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TATTTAAACTGTCCTTCTGTG	0.353										HNSCC(65;0.19)																												dbGAP											0													154.0	157.0	156.0					11																	56114030		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.516G>A	11.37:g.56114030G>A			B9EJB1|Q6IFC3|Q96RC1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L172	ENST00000279783.2	37	c.516	CCDS31528.1	11																																																																																			OR8K1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000150261		0.353	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K1	HGNC	protein_coding	OTTHUMT00000391605.1	308	0.32	1	G	NM_001002907		56114030	56114030	+1	no_errors	ENST00000279783	ensembl	human	known	69_37n	silent	239	31.12	108	SNP	0.000	A
PADI1	29943	genome.wustl.edu	37	1	17567195	17567195	+	Silent	SNP	G	G	T			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr1:17567195G>T	ENST00000375471.4	+	15	1790	c.1698G>T	c.(1696-1698)gtG>gtT	p.V566V	PADI1_ENST00000537499.1_Silent_p.V123V|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Intron|PADI1_ENST00000536552.1_Silent_p.V37V	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	566					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GTGACATCGTGGACATTCCCC	0.587																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	dbGAP											0													125.0	120.0	122.0					1																	17567195		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1698G>T	1.37:g.17567195G>T			A1L4K6|Q70SX6	Silent	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.V566	ENST00000375471.4	37	c.1698	CCDS178.1	1																																																																																			PADI1	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub	ENSG00000142623		0.587	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	HGNC	protein_coding	OTTHUMT00000006621.1	67	0.00	0	G	NM_013358		17567195	17567195	+1	no_errors	ENST00000375471	ensembl	human	known	69_37n	silent	31	34.04	16	SNP	0.980	T
PCDH10	57575	genome.wustl.edu	37	4	134071967	134071968	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr4:134071967_134071968insC	ENST00000264360.5	+	1	1498_1499	c.672_673insC	c.(673-675)cccfs	p.P225fs	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	225	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		gagcaggCCTGCCCCCCCAGCA	0.668																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.679dupC	4.37:g.134071974_134071974dupC	ENSP00000264360:p.Pro225fs		Q4W5F6|Q96SF0	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q226fs	ENST00000264360.5	37	c.672_673	CCDS34063.1	4																																																																																			PCDH10	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000138650		0.668	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	37	0.00	0	-	NM_032961		134071967	134071968	+1	no_errors	ENST00000264360	ensembl	human	known	69_37n	frame_shift_ins	39	11.36	5	INS	0.999:1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		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)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		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)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				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.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	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_Ca/lipid-bd_dom_CaLB,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.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	170	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	120	24.53	39	SNP	1.000	G
PLEKHH1	57475	genome.wustl.edu	37	14	68042723	68042723	+	Splice_Site	SNP	G	G	T			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr14:68042723G>T	ENST00000329153.5	+	16	2484		c.e16+1		PLEKHH1_ENST00000417684.2_5'Flank	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1							cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GCATGAAAAGGTAAGGAAGAG	0.532																																						dbGAP											0													49.0	51.0	51.0					14																	68042723		1944	4136	6080	-	-	-	SO:0001630	splice_region_variant	0			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2352+1G>T	14.37:g.68042723G>T			A6H8X6|Q6PJL4|Q6ZWC7	Splice_Site	SNP	-	e15+1	ENST00000329153.5	37	c.2352+1	CCDS45128.1	14	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397460	0.83120	.	.	ENSG00000054690	ENST00000329153	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2133	0.89877	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHH1	67112476	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.405000	0.97313	2.595000	0.87683	0.549000	0.68633	.	PLEKHH1	-	-	ENSG00000054690		0.532	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	HGNC	protein_coding	OTTHUMT00000412730.3	78	0.00	0	G	XM_031054	Intron	68042723	68042723	+1	no_errors	ENST00000329153	ensembl	human	known	69_37n	splice_site	22	15.38	4	SNP	1.000	T
PPP2CA	5515	genome.wustl.edu	37	5	133537565	133537565	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr5:133537565G>A	ENST00000481195.1	-	3	740	c.460C>T	c.(460-462)Cct>Tct	p.P154S	CTD-2410N18.5_ENST00000519718.1_Intron|PPP2CA_ENST00000231504.5_5'Flank	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme	154					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	GCAGTGAGAGGAAGATAGTCA	0.358																																						dbGAP											0													83.0	79.0	81.0					5																	133537565		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9299	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, alpha isoform"""	176915	"""protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform"""			8383590	Standard	NM_002715		Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.460C>T	5.37:g.133537565G>A	ENSP00000418447:p.Pro154Ser		P05323|P13197	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.P154S	ENST00000481195.1	37	c.460	CCDS4173.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.356218	0.95854	.	.	ENSG00000113575	ENST00000481195;ENST00000522385;ENST00000523082	T;T;T	0.17528	2.27;2.27;2.27	5.98	5.98	0.97165	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.37758	0.1015	L	0.57130	1.785	0.80722	D	1	D	0.69078	0.997	D	0.63703	0.917	T	0.00662	-1.1621	10	0.22706	T	0.39	-13.7704	20.452	0.99131	0.0:0.0:1.0:0.0	.	154	P67775	PP2AA_HUMAN	S	154;89;141	ENSP00000418447:P154S;ENSP00000430869:P89S;ENSP00000428816:P141S	ENSP00000418447:P154S	P	-	1	0	PPP2CA	133565464	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.857000	0.99534	2.838000	0.97847	0.591000	0.81541	CCT	PPP2CA	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000113575		0.358	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2CA	HGNC	protein_coding	OTTHUMT00000251165.1	98	0.00	0	G	NM_002715		133537565	133537565	-1	no_errors	ENST00000481195	ensembl	human	known	69_37n	missense	59	20.27	15	SNP	1.000	A
PRKAR1A	5573	genome.wustl.edu	37	17	66526534	66526534	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr17:66526534G>T	ENST00000589228.1	+	11	1218	c.1090G>T	c.(1090-1092)Gac>Tac	p.D364Y	PRKAR1A_ENST00000392711.1_Missense_Mutation_p.D364Y|PRKAR1A_ENST00000588188.2_Intron|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.D364Y|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.D364Y|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.D364Y	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	364					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CCCATGCTCAGACATCCTCAA	0.512			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	dbGAP	yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""		"""E, M"""	0													236.0	184.0	202.0					17																	66526534		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.1090G>T	17.37:g.66526534G>T	ENSP00000464977:p.Asp364Tyr		K7ER48|Q567S7	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.D364Y	ENST00000589228.1	37	c.1090	CCDS11678.1	17	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327786	0.81690	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.88818	-2.43;-2.43;-2.43	5.9	5.9	0.94986	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.230301	0.43747	D	0.000537	D	0.95579	0.8563	M	0.88105	2.93	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	D	0.95595	0.8658	10	0.87932	D	0	-40.4077	20.2704	0.98474	0.0:0.0:1.0:0.0	.	364	P10644	KAP0_HUMAN	Y	364	ENSP00000351410:D364Y;ENSP00000376475:D364Y;ENSP00000445625:D364Y	ENSP00000351410:D364Y	D	+	1	0	PRKAR1A	64038129	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	8.021000	0.88750	2.793000	0.96121	0.591000	0.81541	GAC	PRKAR1A	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	ENSG00000108946		0.512	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAR1A	HGNC	protein_coding	OTTHUMT00000449884.1	237	0.42	1	G			66526534	66526534	+1	no_errors	ENST00000358598	ensembl	human	known	69_37n	missense	205	44.02	162	SNP	1.000	T
ROBO3	64221	genome.wustl.edu	37	11	124740064	124740064	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr11:124740064G>A	ENST00000397801.1	+	5	962	c.770G>A	c.(769-771)cGt>cAt	p.R257H	ROBO3_ENST00000538940.1_Missense_Mutation_p.R235H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	257					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TCCATAGAGCGTCCCTCATTC	0.552																																						dbGAP											0													132.0	139.0	137.0					11																	124740064		2074	4209	6283	-	-	-	SO:0001583	missense	0			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.770G>A	11.37:g.124740064G>A	ENSP00000380903:p.Arg257His			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R257H	ENST00000397801.1	37	c.770	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410910	0.83340	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.30448	1.53;1.53	4.96	4.02	0.46733	Immunoglobulin-like fold (1);	0.000000	0.33753	U	0.004590	T	0.53514	0.1801	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58346	-0.7652	10	0.66056	D	0.02	.	15.0	0.71464	0.0:0.1438:0.8562:0.0	.	257	Q96MS0	ROBO3_HUMAN	H	257;235	ENSP00000380903:R257H;ENSP00000441797:R235H	ENSP00000380903:R257H	R	+	2	0	ROBO3	124245274	1.000000	0.71417	0.990000	0.47175	0.935000	0.57460	9.608000	0.98331	1.173000	0.42796	0.462000	0.41574	CGT	ROBO3	-	NULL	ENSG00000154134		0.552	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	104	0.00	0	G	XM_370663		124740064	124740064	+1	no_errors	ENST00000397801	ensembl	human	known	69_37n	missense	26	25.71	9	SNP	1.000	A
SPATA17	128153	genome.wustl.edu	37	1	217975165	217975165	+	Silent	SNP	A	A	G			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr1:217975165A>G	ENST00000366933.4	+	9	1033	c.978A>G	c.(976-978)gaA>gaG	p.E326E	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	326						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TCCGAAGTGAAAATCCTAAGA	0.289																																						dbGAP											0													50.0	50.0	50.0					1																	217975165		2200	4291	6491	-	-	-	SO:0001819	synonymous_variant	0			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.978A>G	1.37:g.217975165A>G			A5D6N2	Silent	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.E326	ENST00000366933.4	37	c.978	CCDS1519.1	1																																																																																			SPATA17	-	NULL	ENSG00000162814		0.289	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA17	HGNC	protein_coding	OTTHUMT00000092433.2	70	0.00	0	A	NM_138796		217975165	217975165	+1	no_errors	ENST00000366933	ensembl	human	known	69_37n	silent	45	34.78	24	SNP	0.980	G
TAF1L	138474	genome.wustl.edu	37	9	32633083	32633083	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr9:32633083C>T	ENST00000242310.4	-	1	2584	c.2495G>A	c.(2494-2496)cGc>cAc	p.R832H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	832					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCAGAAAAGGCGGTAAATAAA	0.453																																						dbGAP											0													113.0	117.0	116.0					9																	32633083		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2495G>A	9.37:g.32633083C>T	ENSP00000418379:p.Arg832His		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R832H	ENST00000242310.4	37	c.2495	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787100	0.49997	.	.	ENSG00000122728	ENST00000242310	T	0.19532	2.14	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	H	0.94658	3.565	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.56679	-0.7939	10	0.87932	D	0	.	7.8312	0.29344	0.0:1.0:0.0:0.0	.	832	Q8IZX4	TAF1L_HUMAN	H	832	ENSP00000418379:R832H	ENSP00000418379:R832H	R	-	2	0	TAF1L	32623083	1.000000	0.71417	0.998000	0.56505	0.701000	0.40568	4.919000	0.63383	0.632000	0.30432	0.195000	0.17529	CGC	TAF1L	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591	ENSG00000122728		0.453	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	235	0.00	0	C			32633083	32633083	-1	no_errors	ENST00000242310	ensembl	human	known	69_37n	missense	148	20.63	39	SNP	1.000	T
TRANK1	9881	genome.wustl.edu	37	3	36874921	36874921	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr3:36874921G>C	ENST00000429976.2	-	21	6268	c.6021C>G	c.(6019-6021)ttC>ttG	p.F2007L	TRANK1_ENST00000428977.2_Missense_Mutation_p.F1457L|TRANK1_ENST00000301807.6_Missense_Mutation_p.F1457L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2007							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGTCAAACTTGAAGAAGGCAT	0.547																																						dbGAP											0													28.0	28.0	28.0					3																	36874921		1945	4141	6086	-	-	-	SO:0001583	missense	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6021C>G	3.37:g.36874921G>C	ENSP00000416168:p.Phe2007Leu		Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.F2007L	ENST00000429976.2	37	c.6021	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	G	3.712	-0.059318	0.07317	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.28255	1.62;2.03;1.62	5.03	4.15	0.48705	.	0.482647	0.19080	N	0.123269	T	0.12178	0.0296	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29731	-1.0002	10	0.09843	T	0.71	.	4.7736	0.13167	0.0874:0.1603:0.6061:0.1462	.	2007	O15050	TRNK1_HUMAN	L	1457;2007;1457	ENSP00000416826:F1457L;ENSP00000416168:F2007L;ENSP00000301807:F1457L	ENSP00000301807:F1457L	F	-	3	2	TRANK1	36849925	0.001000	0.12720	0.979000	0.43373	0.862000	0.49288	0.659000	0.24994	1.250000	0.43966	0.555000	0.69702	TTC	TRANK1	-	NULL	ENSG00000168016		0.547	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		70	0.00	0	G	NM_014831		36874921	36874921	-1	no_errors	ENST00000429976	ensembl	human	known	69_37n	missense	31	32.61	15	SNP	0.069	C
TUBGCP4	27229	genome.wustl.edu	37	15	43696712	43696712	+	Silent	SNP	T	T	C			TCGA-A8-A08O-01A-21W-A071-09	TCGA-A8-A08O-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bc1398b9-d4ec-43e8-86bc-7025afaf93d5	ed048af2-2fc2-4c5c-9f8d-086a864a8b77	g.chr15:43696712T>C	ENST00000260383.7	+	17	2207	c.1953T>C	c.(1951-1953)taT>taC	p.Y651Y	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Silent_p.Y650Y			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	651					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GACTAGATTATAACAAATACT	0.438																																						dbGAP											0													93.0	85.0	88.0					15																	43696712		1864	4095	5959	-	-	-	SO:0001819	synonymous_variant	0			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1953T>C	15.37:g.43696712T>C			B3KNK6|Q969X3|Q9NVF0	Silent	SNP	pfam_Spc97_Spc98	p.Y651	ENST00000260383.7	37	c.1953		15																																																																																			TUBGCP4	-	NULL	ENSG00000137822		0.438	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	TUBGCP4	HGNC	protein_coding	OTTHUMT00000432970.1	338	0.00	0	T	NM_014444		43696712	43696712	+1	no_errors	ENST00000260383	ensembl	human	known	69_37n	silent	111	41.58	79	SNP	1.000	C
