#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
CACNA2D3	55799	genome.wustl.edu	37	3	55107522	55107522	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr3:55107522T>C	ENST00000474759.1	+	36	3086	c.3038T>C	c.(3037-3039)gTg>gCg	p.V1013A	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.V1013A|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.V1013A|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.V919A|CACNA2D3_ENST00000478261.1_Intron	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1013						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	ATGGTGGTGGTGGACAGCAGC	0.502																																						dbGAP											0													91.0	93.0	93.0					3																	55107522		2034	4182	6216	-	-	-	SO:0001583	missense	0			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.3038T>C	3.37:g.55107522T>C	ENSP00000419101:p.Val1013Ala		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.V1013A	ENST00000474759.1	37	c.3038	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404997	0.62288	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.57	5.57	0.84162	.	0.064020	0.64402	D	0.000006	T	0.53384	0.1793	M	0.74467	2.265	0.51233	D	0.999919	B	0.19706	0.038	B	0.25291	0.059	T	0.50849	-0.8779	10	0.16896	T	0.51	.	14.307	0.66391	0.0:0.0:0.0:1.0	.	1013	Q8IZS8	CA2D3_HUMAN	A	1013;1013;1013;919;919	ENSP00000389506:V1013A;ENSP00000419101:V1013A;ENSP00000288197:V1013A;ENSP00000417279:V919A	ENSP00000288197:V1013A	V	+	2	0	CACNA2D3	55082562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.664000	0.83830	2.129000	0.65627	0.519000	0.50382	GTG	CACNA2D3	-	NULL	ENSG00000157445		0.502	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	106	0.00	0	T			55107522	55107522	+1	no_errors	ENST00000288197	ensembl	human	known	69_37n	missense	90	14.95	16	SNP	1.000	C
E2F2	1870	genome.wustl.edu	37	1	23847527	23847527	+	Silent	SNP	C	C	T			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr1:23847527C>T	ENST00000361729.2	-	4	1041	c.615G>A	c.(613-615)ggG>ggA	p.G205G	E2F2_ENST00000487237.1_5'Flank	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	205	Dimerization. {ECO:0000255}.		G -> R (in dbSNP:rs2229297). {ECO:0000269|Ref.3}.		intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GTTGCTGCTTCCCAGGTCTGG	0.567																																						dbGAP											0													65.0	61.0	62.0					1																	23847527		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.615G>A	1.37:g.23847527C>T			B2R9W1|Q7Z6H1	Silent	SNP	pfam_E2F_TDP	p.G205	ENST00000361729.2	37	c.615	CCDS236.1	1																																																																																			E2F2	-	NULL	ENSG00000007968		0.567	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F2	HGNC	protein_coding	OTTHUMT00000008885.1	73	0.00	0	C	NM_004091		23847527	23847527	-1	no_errors	ENST00000361729	ensembl	human	known	69_37n	silent	47	32.86	23	SNP	1.000	T
FAM122C	159091	genome.wustl.edu	37	X	133955536	133955536	+	Intron	SNP	G	G	A			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chrX:133955536G>A	ENST00000370784.4	+	2	595				FAM122C_ENST00000445123.1_Intron|FAM122C_ENST00000370785.3_Intron|FAM122C_ENST00000414371.2_3'UTR	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					ATGTCACTGCGTCACTTCTCC	0.493																																						dbGAP											0													218.0	164.0	180.0					X																	133955536		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.189+6657G>A	X.37:g.133955536G>A			F5H036|Q8WVK9	RNA	SNP	-	NULL	ENST00000370784.4	37	NULL	CCDS55501.1	X																																																																																			FAM122C	-	-	ENSG00000156500		0.493	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM122C	HGNC	protein_coding		505	0.20	1	G	NM_138819		133955536	133955536	+1	no_errors	ENST00000495147	ensembl	human	known	69_37n	rna	214	18.63	49	SNP	0.000	A
FBXO40	51725	genome.wustl.edu	37	3	121342188	121342188	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr3:121342188G>A	ENST00000338040.4	+	3	2326	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	638					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGTCCACAGAGAGGTAAGTAA	0.408																																						dbGAP											0													34.0	36.0	35.0					3																	121342188		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1912G>A	3.37:g.121342188G>A	ENSP00000337510:p.Glu638Lys		B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF	p.E638K	ENST00000338040.4	37	c.1912	CCDS33835.1	3	.	.	.	.	.	.	.	.	.	.	G	0.199	-1.046187	0.01997	.	.	ENSG00000163833	ENST00000338040	T	0.26660	1.72	6.06	-1.82	0.07857	F-box domain, Skp2-like (1);	0.603950	0.18647	N	0.135125	T	0.03827	0.0108	N	0.00152	-1.975	0.26694	N	0.971309	B	0.02656	0.0	B	0.04013	0.001	T	0.44050	-0.9353	10	0.02654	T	1	-4.5735	9.2743	0.37690	0.2211:0.6307:0.1482:0.0	.	638	Q9UH90	FBX40_HUMAN	K	638	ENSP00000337510:E638K	ENSP00000337510:E638K	E	+	1	0	FBXO40	122824878	1.000000	0.71417	0.927000	0.36925	0.592000	0.36648	3.164000	0.50770	-0.181000	0.10619	-0.172000	0.13284	GAG	FBXO40	-	superfamily_F-box_dom_cyclin-like	ENSG00000163833		0.408	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO40	HGNC	protein_coding	OTTHUMT00000355158.1	40	0.00	0	G	NM_016298		121342188	121342188	+1	no_errors	ENST00000338040	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	0.962	A
GPS2	2874	genome.wustl.edu	37	17	7217447	7217447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr17:7217447G>A	ENST00000380728.2	-	5	649	c.349C>T	c.(349-351)Cag>Tag	p.Q117*	RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Nonsense_Mutation_p.Q117*|GPS2_ENST00000389167.5_Nonsense_Mutation_p.Q117*			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	117					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)	p.Q117*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				AGGCTCTGCTGGTATGCAGCT	0.507																																						dbGAP											1	Substitution - Nonsense(1)	urinary_tract(1)											186.0	170.0	176.0					17																	7217447		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.349C>T	17.37:g.7217447G>A	ENSP00000370104:p.Gln117*		B4DXA1|Q6FHM8	Nonsense_Mutation	SNP	NULL	p.Q117*	ENST00000380728.2	37	c.349	CCDS11100.1	17	.	.	.	.	.	.	.	.	.	.	G	37	5.995081	0.97184	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	.	.	.	4.88	4.88	0.63580	.	0.198568	0.32106	U	0.006565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	16.9648	0.86282	0.0:0.0:1.0:0.0	.	.	.	.	X	117	.	ENSP00000319371:Q117X	Q	-	1	0	GPS2	7158171	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	6.657000	0.74402	2.548000	0.85928	0.655000	0.94253	CAG	GPS2	-	NULL	ENSG00000132522		0.507	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPS2	HGNC	protein_coding	OTTHUMT00000220048.4	423	0.00	0	G	NM_004489		7217447	7217447	-1	no_errors	ENST00000380728	ensembl	human	known	69_37n	nonsense	112	37.08	66	SNP	1.000	A
MAP2K4	6416	genome.wustl.edu	37	17	12032570	12032571	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr17:12032570_12032571insTC	ENST00000353533.5	+	9	1069_1070	c.1006_1007insTC	c.(1006-1008)ttcfs	p.F336fs	MAP2K4_ENST00000415385.3_Frame_Shift_Ins_p.F347fs	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	336	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GGAAAGGGAATTCTCCCCGAGT	0.431			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|lung(1)|pancreas(1)																																								-	-	-	SO:0001589	frameshift_variant	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.1009_1010dupTC	17.37:g.12032573_12032574dupTC	ENSP00000262445:p.Phe336fs		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S350fs	ENST00000353533.5	37	c.1039_1040	CCDS11162.1	17																																																																																			MAP2K4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000065559		0.431	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	277	0.00	0	-			12032570	12032571	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	frame_shift_ins	92	23.97	29	INS	1.000:1.000	TC
LLGL1	3996	genome.wustl.edu	37	17	18145296	18145296	+	Silent	SNP	C	C	T			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr17:18145296C>T	ENST00000316843.4	+	19	2961	c.2865C>T	c.(2863-2865)cgC>cgT	p.R955R		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	955					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					ACTGGCCCCGCGATGCCACCC	0.612																																						dbGAP											0													54.0	57.0	56.0					17																	18145296		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2865C>T	17.37:g.18145296C>T			A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Lethal2_giant,pfscan_WD40_repeat	p.R955	ENST00000316843.4	37	c.2865	CCDS32586.1	17																																																																																			LLGL1	-	NULL	ENSG00000131899		0.612	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LLGL1	HGNC	protein_coding	OTTHUMT00000132067.3	72	0.00	0	C			18145296	18145296	+1	no_errors	ENST00000316843	ensembl	human	known	69_37n	silent	28	36.36	16	SNP	0.000	T
MLLT4	4301	genome.wustl.edu	37	6	168289974	168289974	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr6:168289974T>G	ENST00000447894.2	+	7	977	c.977T>G	c.(976-978)tTa>tGa	p.L326*	MLLT4_ENST00000366806.2_Nonsense_Mutation_p.L326*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.L325*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.L326*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.L325*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.L326*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.L326*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	326	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GAGTGTCCTTTACAAATCTTC	0.363			T	MLL	AL																																	dbGAP		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													170.0	169.0	170.0					6																	168289974		2203	4296	6499	-	-	-	SO:0001587	stop_gained	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.977T>G	6.37:g.168289974T>G	ENSP00000404595:p.Leu326*		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Nonsense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.L326*	ENST00000447894.2	37	c.977		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	40|40	8.078866|8.078866	0.98643|0.98643	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000423229|ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	.|.	.|.	.|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	T|.	0.20088|.	0.0483|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.08785|.	-1.0705|.	3|.	.|0.02654	.|T	.|1	-19.7704|-19.7704	15.3734|15.3734	0.74584|0.74584	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	L|X	39|326;326;326;326;325;326;325;326	.|.	.|ENSP00000345834:L326X	F|L	+|+	3|2	2|0	MLLT4|MLLT4	168032823|168032823	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.994000|0.994000	0.84299|0.84299	7.113000|7.113000	0.77095|0.77095	2.028000|2.028000	0.59812|0.59812	0.533000|0.533000	0.62120|0.62120	TTT|TTA	MLLT4	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000130396		0.363	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	408	0.00	0	T	NM_005936		168289974	168289974	+1	no_errors	ENST00000366806	ensembl	human	known	69_37n	nonsense	112	28.66	45	SNP	1.000	G
MYOM3	127294	genome.wustl.edu	37	1	24390618	24390618	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr1:24390618G>A	ENST00000374434.3	-	30	3728	c.3566C>T	c.(3565-3567)gCg>gTg	p.A1189V	RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.A82V|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Missense_Mutation_p.A1192V	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1189	Ig-like C2-type 3.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AGAAACCATCGCTCTGTAAAT	0.552																																						dbGAP											0													117.0	118.0	118.0					1																	24390618		2021	4215	6236	-	-	-	SO:0001583	missense	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3566C>T	1.37:g.24390618G>A	ENSP00000363557:p.Ala1189Val		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A1192V	ENST00000374434.3	37	c.3575	CCDS41281.1	1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138528	0.37728	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.19806	2.12;2.66;2.66	5.77	5.77	0.91146	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.119358	0.56097	D	0.000032	T	0.33760	0.0874	L	0.41632	1.29	0.80722	D	1	D;B	0.89917	1.0;0.163	D;B	0.75020	0.985;0.089	T	0.02288	-1.1182	10	0.02654	T	1	.	18.166	0.89727	0.0:0.0:1.0:0.0	.	1189;82	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	V	82;1189;1192;84	ENSP00000342689:A82V;ENSP00000363557:A1189V;ENSP00000332670:A1192V	ENSP00000332670:A1192V	A	-	2	0	MYOM3	24263205	1.000000	0.71417	0.963000	0.40424	0.060000	0.15804	4.466000	0.60148	2.715000	0.92844	0.655000	0.94253	GCG	MYOM3	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000142661		0.552	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	169	0.00	0	G	NM_152372		24390618	24390618	-1	no_errors	ENST00000330966	ensembl	human	known	69_37n	missense	86	30.65	38	SNP	0.980	A
NUMBL	9253	genome.wustl.edu	37	19	41183152	41183152	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr19:41183152G>C	ENST00000252891.4	-	7	882	c.715C>G	c.(715-717)Ccg>Gcg	p.P239A	NUMBL_ENST00000540131.1_Missense_Mutation_p.P198A|NUMBL_ENST00000598779.1_Missense_Mutation_p.P198A	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	239					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TTCTTGTCCGGGGCCTCTCGC	0.677																																						dbGAP											0													20.0	19.0	20.0					19																	41183152		2168	4225	6393	-	-	-	SO:0001583	missense	0			AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.715C>G	19.37:g.41183152G>C	ENSP00000252891:p.Pro239Ala		Q7Z4J9	Missense_Mutation	SNP	pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom	p.P239A	ENST00000252891.4	37	c.715	CCDS12561.1	19	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.471621	0.00167	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.53857	0.6;0.61	5.3	-10.6	0.00265	.	1.354230	0.05086	N	0.484376	T	0.24509	0.0594	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39722	-0.9600	10	0.30854	T	0.27	1.8275	11.1769	0.48606	0.286:0.5652:0.0856:0.0633	.	239;239	A8K033;Q9Y6R0	.;NUMBL_HUMAN	A	239;198	ENSP00000252891:P239A;ENSP00000442759:P198A	ENSP00000252891:P239A	P	-	1	0	NUMBL	45874992	0.003000	0.15002	0.000000	0.03702	0.030000	0.12068	0.242000	0.18087	-3.464000	0.00158	-1.319000	0.01295	CCG	NUMBL	-	pirsf_Numb/numb-like	ENSG00000105245		0.677	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	HGNC	protein_coding	OTTHUMT00000462749.2	32	0.00	0	G	NM_004756		41183152	41183152	-1	no_errors	ENST00000252891	ensembl	human	known	69_37n	missense	23	14.81	4	SNP	0.000	C
PCDH12	51294	genome.wustl.edu	37	5	141334577	141334577	+	Missense_Mutation	SNP	T	T	G			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr5:141334577T>G	ENST00000231484.3	-	1	4050	c.2840A>C	c.(2839-2841)aAc>aCc	p.N947T	AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	947					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCACGGGGTTCCGCTCGGC	0.592																																						dbGAP											0													40.0	43.0	42.0					5																	141334577		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2840A>C	5.37:g.141334577T>G	ENSP00000231484:p.Asn947Thr		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N947T	ENST00000231484.3	37	c.2840	CCDS4269.1	5	.	.	.	.	.	.	.	.	.	.	T	18.15	3.560765	0.65538	.	.	ENSG00000113555	ENST00000231484	T	0.56103	0.48	4.54	4.54	0.55810	.	0.366163	0.28653	N	0.014586	T	0.50973	0.1647	L	0.60455	1.87	0.40389	D	0.979526	D	0.56968	0.978	B	0.44224	0.444	T	0.60120	-0.7325	10	0.72032	D	0.01	.	11.8983	0.52669	0.0:0.0:0.0:1.0	.	947	Q9NPG4	PCD12_HUMAN	T	947	ENSP00000231484:N947T	ENSP00000231484:N947T	N	-	2	0	PCDH12	141314761	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.000000	0.49481	1.913000	0.55393	0.533000	0.62120	AAC	PCDH12	-	NULL	ENSG00000113555		0.592	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	15	0.00	0	T	NM_016580		141334577	141334577	-1	no_errors	ENST00000231484	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	1.000	G
PDCD11	22984	genome.wustl.edu	37	10	105200238	105200238	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr10:105200238A>T	ENST00000369797.3	+	29	4434	c.4340A>T	c.(4339-4341)cAg>cTg	p.Q1447L		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1447					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		cagaaggggcaggaggaggtg	0.562																																						dbGAP											0													57.0	65.0	62.0					10																	105200238		2202	4300	6502	-	-	-	SO:0001583	missense	0			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4340A>T	10.37:g.105200238A>T	ENSP00000358812:p.Gln1447Leu		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.Q1447L	ENST00000369797.3	37	c.4340	CCDS31276.1	10	.	.	.	.	.	.	.	.	.	.	A	10.25	1.299297	0.23650	.	.	ENSG00000148843	ENST00000369797	T	0.10099	2.91	5.77	2.14	0.27477	.	1.173370	0.05800	N	0.612050	T	0.07098	0.0180	L	0.34521	1.04	0.09310	N	1	P	0.35433	0.501	B	0.25140	0.058	T	0.37430	-0.9706	10	0.27785	T	0.31	-1.5787	3.2518	0.06818	0.6424:0.1447:0.075:0.138	.	1447	Q14690	RRP5_HUMAN	L	1447	ENSP00000358812:Q1447L	ENSP00000358812:Q1447L	Q	+	2	0	PDCD11	105190228	0.000000	0.05858	0.004000	0.12327	0.058000	0.15608	-0.020000	0.12525	0.114000	0.18032	-0.444000	0.05651	CAG	PDCD11	-	NULL	ENSG00000148843		0.562	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	HGNC	protein_coding	OTTHUMT00000050151.1	296	0.00	0	A			105200238	105200238	+1	no_errors	ENST00000369797	ensembl	human	known	69_37n	missense	179	22.17	51	SNP	0.191	T
PLA2G15	23659	genome.wustl.edu	37	16	68293055	68293055	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr16:68293055A>G	ENST00000219345.5	+	6	817	c.734A>G	c.(733-735)aAc>aGc	p.N245S	RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000566188.1_Silent_p.Q203Q|PLA2G15_ENST00000444212.2_Missense_Mutation_p.N45S|RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000413021.2_Missense_Mutation_p.N151S	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	245					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GCAGGAGACAACAACCGGATC	0.617																																						dbGAP											0													38.0	37.0	37.0					16																	68293055		2198	4300	6498	-	-	-	SO:0001583	missense	0			AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.734A>G	16.37:g.68293055A>G	ENSP00000219345:p.Asn245Ser		B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	pfam_LACT/PDAT_acylTrfase	p.N245S	ENST00000219345.5	37	c.734	CCDS10864.1	16	.	.	.	.	.	.	.	.	.	.	A	25.2	4.614994	0.87359	.	.	ENSG00000103066	ENST00000413021;ENST00000219345;ENST00000444212	D;D;D	0.95885	-3.84;-3.84;-3.84	5.3	5.3	0.74995	.	0.080189	0.85682	D	0.000000	D	0.96577	0.8883	M	0.72576	2.205	0.80722	D	1	D;D;P	0.71674	0.998;0.998;0.489	D;D;B	0.67725	0.953;0.95;0.137	D	0.95290	0.8394	10	0.09338	T	0.73	-33.7433	15.0745	0.72066	1.0:0.0:0.0:0.0	.	45;151;245	B4DPU0;B4DUD1;Q8NCC3	.;.;PAG15_HUMAN	S	151;245;45	ENSP00000394197:N151S;ENSP00000219345:N245S;ENSP00000393610:N45S	ENSP00000219345:N245S	N	+	2	0	PLA2G15	66850556	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.081000	0.94049	2.225000	0.72522	0.533000	0.62120	AAC	PLA2G15	-	pfam_LACT/PDAT_acylTrfase	ENSG00000103066		0.617	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G15	HGNC	protein_coding	OTTHUMT00000268888.2	22	0.00	0	A	NM_012320		68293055	68293055	+1	no_errors	ENST00000219345	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	1.000	G
PKD1L3	342372	genome.wustl.edu	37	16	71976599	71976599	+	RNA	SNP	C	C	T			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr16:71976599C>T	ENST00000534738.1	-	0	4183							Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						GGAATAGGCTCTTGGGACGCC	0.488																																						dbGAP											0													111.0	99.0	103.0					16																	71976599		692	1591	2283	-	-	-			0			AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.71976599C>T				RNA	SNP	-	NULL	ENST00000534738.1	37	NULL		16																																																																																			PKD1L3	-	-	ENSG00000187008		0.488	PKD1L3-001	KNOWN	basic	processed_transcript	PKD1L3	HGNC	processed_transcript	OTTHUMT00000387876.1	182	0.00	0	C	NM_181536		71976599	71976599	-1	no_errors	ENST00000335106	ensembl	human	known	69_37n	rna	81	20.59	21	SNP	0.000	T
RPP30	10556	genome.wustl.edu	37	10	92656100	92656100	+	Silent	SNP	C	C	T			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr10:92656100C>T	ENST00000371703.3	+	10	919	c.648C>T	c.(646-648)gaC>gaT	p.D216D	RPP30_ENST00000413330.1_Silent_p.D216D|RPP30_ENST00000489806.1_3'UTR	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	216					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						CTGAAAGTGACGCCAAGGCTG	0.488																																						dbGAP											0													108.0	97.0	101.0					10																	92656100		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.648C>T	10.37:g.92656100C>T			B2R799|E9PB02	Silent	SNP	pfam_RNase_P_p30,superfamily_Pol/histidinol_Pase-like	p.D216	ENST00000371703.3	37	c.648	CCDS7411.1	10																																																																																			RPP30	-	pfam_RNase_P_p30,superfamily_Pol/histidinol_Pase-like	ENSG00000148688		0.488	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPP30	HGNC	protein_coding	OTTHUMT00000049347.1	237	0.42	1	C	NM_006413		92656100	92656100	+1	no_errors	ENST00000413330	ensembl	human	known	69_37n	silent	135	18.18	30	SNP	1.000	T
SLC25A22	79751	genome.wustl.edu	37	11	793561	793561	+	Silent	SNP	G	G	A			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr11:793561G>A	ENST00000320230.5	-	5	742	c.261C>T	c.(259-261)aaC>aaT	p.N87N	SLC25A22_ENST00000531214.1_Silent_p.N87N	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	87					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAAGAAGTCGTTGGCTGCCA	0.617																																					Colon(93;848 1468 3270 23355 49636)	dbGAP											0													96.0	79.0	85.0					11																	793561		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.261C>T	11.37:g.793561G>A			A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.N87	ENST00000320230.5	37	c.261	CCDS7715.1	11																																																																																			SLC25A22	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000177542		0.617	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A22	HGNC	protein_coding	OTTHUMT00000257107.2	91	0.00	0	G			793561	793561	-1	no_errors	ENST00000320230	ensembl	human	known	69_37n	silent	82	15.46	15	SNP	0.997	A
SLC9C1	285335	genome.wustl.edu	37	3	111901058	111901058	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr3:111901058G>C	ENST00000305815.5	-	21	2823	c.2571C>G	c.(2569-2571)atC>atG	p.I857M	SLC9C1_ENST00000487372.1_Missense_Mutation_p.I809M	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	857					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TAAGAGGCCTGATAATAGATT	0.318																																						dbGAP											0													83.0	90.0	88.0					3																	111901058		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2571C>G	3.37:g.111901058G>C	ENSP00000306627:p.Ile857Met		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.I857M	ENST00000305815.5	37	c.2571	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	G	9.842	1.191247	0.21954	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.79653	-1.27;-1.29	5.72	4.84	0.62591	.	0.396406	0.24278	N	0.039927	D	0.87561	0.6208	M	0.69823	2.125	0.09310	N	1	D;P	0.89917	1.0;0.93	D;P	0.79784	0.993;0.564	T	0.79876	-0.1618	10	0.59425	D	0.04	.	10.743	0.46164	0.0877:0.0:0.9123:0.0	.	809;857	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	M	857;809	ENSP00000306627:I857M;ENSP00000420688:I809M	ENSP00000306627:I857M	I	-	3	3	SLC9A10	113383748	0.372000	0.25064	0.003000	0.11579	0.014000	0.08584	1.642000	0.37207	1.420000	0.47138	0.536000	0.68110	ATC	SLC9C1	-	NULL	ENSG00000172139		0.318	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	199	0.00	0	G	NM_183061		111901058	111901058	-1	no_errors	ENST00000305815	ensembl	human	known	69_37n	missense	69	25.00	23	SNP	0.012	C
TBP	6908	genome.wustl.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						dbGAP											4	Substitution - coding silent(4)	lung(3)|prostate(1)											14.0	19.0	17.0					6																	170871052		1952	3842	5794	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q76	ENST00000392092.2	37	c.228	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	24	0.00	0	G	NM_003194		170871052	170871052	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	11	38.89	7	SNP	0.994	A
TUBGCP5	114791	genome.wustl.edu	37	15	22866738	22866738	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr15:22866738G>A	ENST00000283645.4	+	17	2480	c.2350G>A	c.(2350-2352)Gtt>Att	p.V784I	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.V784I	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	784					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TTTTGAAAATGTTGACACAGC	0.338																																						dbGAP											0													90.0	85.0	87.0					15																	22866738		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2350G>A	15.37:g.22866738G>A	ENSP00000283645:p.Val784Ile		E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.V784I	ENST00000283645.4	37	c.2350	CCDS10008.1	15	.	.	.	.	.	.	.	.	.	.	G	3.152	-0.173986	0.06421	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.07021	3.23;3.23	4.77	2.88	0.33553	.	0.237376	0.35207	N	0.003364	T	0.02929	0.0087	N	0.02539	-0.55	0.32856	D	0.507316	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.33574	-0.9863	10	0.17369	T	0.5	-14.418	8.0857	0.30771	0.253:0.0:0.747:0.0	.	784;784	Q96RT8;E9PB12	GCP5_HUMAN;.	I	784	ENSP00000283645:V784I;ENSP00000409217:V784I	ENSP00000283645:V784I	V	+	1	0	TUBGCP5	20418179	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.925000	0.40074	0.618000	0.30179	0.491000	0.48974	GTT	TUBGCP5	-	pfam_Spc97_Spc98	ENSG00000153575		0.338	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	HGNC	protein_coding	OTTHUMT00000250998.2	271	0.00	0	G	NM_052903		22866738	22866738	+1	no_errors	ENST00000283645	ensembl	human	known	69_37n	missense	135	24.58	44	SNP	1.000	A
UNC45B	146862	genome.wustl.edu	37	17	33504550	33504550	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr17:33504550G>A	ENST00000268876.5	+	17	2279	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N	UNC45B_ENST00000433649.1_Missense_Mutation_p.D726N|UNC45B_ENST00000394570.2_Missense_Mutation_p.D726N|UNC45B_ENST00000591048.1_Missense_Mutation_p.D647N|UNC45B_ENST00000378449.1_Missense_Mutation_p.D647N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	728					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AAGACTCTTGGACACACAGAG	0.557																																						dbGAP											0													49.0	35.0	39.0					17																	33504550		2202	4298	6500	-	-	-	SO:0001583	missense	0			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2182G>A	17.37:g.33504550G>A	ENSP00000268876:p.Asp728Asn		Q495Q8|Q495Q9	Missense_Mutation	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D728N	ENST00000268876.5	37	c.2182	CCDS11292.1	17	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164589	0.38217	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.49139	3.63;3.18;0.79	5.3	4.28	0.50868	Armadillo-like helical (1);Armadillo-type fold (1);	0.310256	0.39274	N	0.001406	T	0.21881	0.0527	N	0.04880	-0.145	0.27452	N	0.953399	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.0;0.0;0.006	T	0.15549	-1.0433	10	0.14656	T	0.56	-26.6608	6.5079	0.22206	0.2895:0.0:0.7105:0.0	.	647;726;728	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	N	728;728;726;647	ENSP00000268876:D728N;ENSP00000412840:D726N;ENSP00000367710:D647N	ENSP00000268876:D728N	D	+	1	0	UNC45B	30528663	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	1.667000	0.37471	1.358000	0.45922	0.563000	0.77884	GAC	UNC45B	-	superfamily_ARM-type_fold	ENSG00000141161		0.557	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45B	HGNC	protein_coding	OTTHUMT00000256458.2	70	0.00	0	G	NM_173167		33504550	33504550	+1	no_errors	ENST00000268876	ensembl	human	known	69_37n	missense	32	15.79	6	SNP	1.000	A
ZNF511	118472	genome.wustl.edu	37	10	135125374	135125374	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AU-01A-11D-A12Q-09	TCGA-AR-A1AU-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d7cfeb04-ce20-4aab-8e5b-8a1483bcaaa5	92a2cabd-4b1f-465e-8ef7-6b2cbf19fc0a	g.chr10:135125374G>A	ENST00000359035.3	+	5	712	c.709G>A	c.(709-711)Gtt>Att	p.V237I	ZNF511_ENST00000361518.5_Intron|TUBGCP2_ENST00000470829.1_5'Flank|TUBGCP2_ENST00000417178.2_5'Flank|ZNF511_ENST00000368554.4_Intron|ZNF511_ENST00000463816.2_Intron|TUBGCP2_ENST00000368563.2_5'Flank			Q8NB15	ZN511_HUMAN	zinc finger protein 511	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		TCTGAAACCCGTTCTCAACAT	0.542																																						dbGAP											0													69.0	76.0	74.0					10																	135125374		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.709G>A	10.37:g.135125374G>A	ENSP00000351929:p.Val237Ile		A8K8L5|Q8WUP1|Q96BV2	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.V237I	ENST00000359035.3	37	c.709		10	.	.	.	.	.	.	.	.	.	.	G	9.595	1.127272	0.20959	.	.	ENSG00000198546	ENST00000359035	.	.	.	2.51	0.591	0.17465	.	1.875310	0.03790	N	0.262651	T	0.23926	0.0579	.	.	.	0.09310	N	1	P	0.39311	0.667	B	0.35813	0.211	T	0.15549	-1.0433	7	.	.	.	.	4.5125	0.11919	0.3323:0.0:0.6677:0.0	.	237	Q8NB15	ZN511_HUMAN	I	237	.	.	V	+	1	0	ZNF511	134975364	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.316000	0.19469	0.159000	0.19401	0.655000	0.94253	GTT	ZNF511	-	NULL	ENSG00000198546		0.542	ZNF511-002	KNOWN	basic	protein_coding	ZNF511	HGNC	protein_coding	OTTHUMT00000051143.1	15	0.00	0	G	NM_145806		135125374	135125374	+1	no_errors	ENST00000359035	ensembl	human	known	69_37n	missense	5	61.54	8	SNP	0.000	A
